id subject predicate object category agent_type aggregator_knowledge_source knowledge_level negated original_predicate primary_knowledge_source 27e9d9ac-181f-4553-abc9-0d4ebe8b1877 CLINVAR:586 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 741bfa85-836b-4208-a317-907a7c01bd49 CLINVAR:586 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 876bbadf-94eb-4d27-9685-99f33e320082 CLINVAR:102844 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9aed580e-d6f1-4282-8040-039b6d49a0a8 CLINVAR:102844 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0f306836-d2fe-474c-a7b0-4b63112de69b CLINVAR:102736 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 65e98111-e77d-4378-a951-209eb5a314c4 CLINVAR:102736 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7e8a3b67-00bd-4ecb-a9ee-3718543f8527 CLINVAR:102705 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 31731773-c46e-4b66-87d8-3f0e95b551ce CLINVAR:102705 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 196f7033-77dd-4812-b5ab-302293f24e8f CLINVAR:102518 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 24b1f97a-26f2-4f34-9287-3b2dcda58009 CLINVAR:102518 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d0ab709b-1a27-4aba-bf56-f8dd58a3508f CLINVAR:102498 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ca11846c-58c8-4bce-9409-9219320ce7ab CLINVAR:102498 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2f7dfb89-9082-4874-870e-475eebd45e01 CLINVAR:102475 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a3c91be1-a658-47ab-a54b-c8d4d6225cb4 CLINVAR:102475 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 463ee473-a84d-449c-9b5d-bb451c8685f1 CLINVAR:92752 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7d6a7609-2478-420f-87d8-6f4411c61fa5 CLINVAR:92752 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 98fe3bf0-55f0-4422-a590-5d0aad8be2db CLINVAR:581 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5dc11dd8-078f-40f4-86d7-ea3deb600ae7 CLINVAR:581 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b54d29b0-6cf5-48b8-b72f-0ae49ff66634 CLINVAR:102693 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ad1ad136-eee1-4516-af35-8133fd2bdb7c CLINVAR:102693 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d139663c-3866-4fb0-b9cc-a24082844216 CLINVAR:102723 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e4f023dc-5cae-49b3-894c-36e1e1b5a1fd CLINVAR:102723 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8874bd0d-b615-40d2-824a-b0508612ddbf CLINVAR:92737 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c290d98a-7ba7-4014-ba94-708d8bfb9236 CLINVAR:92737 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fa55b805-ff40-454b-b1cf-d645885dcc0d CLINVAR:102742 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a653fc2e-c979-4586-9285-0f0d48c821a8 CLINVAR:102742 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bb9fe4ff-0f22-4bb1-85f0-bff7189fe87a CLINVAR:92746 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3a9b841b-bed7-48ca-937d-72586d9c9140 CLINVAR:92746 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 81d0dfd3-b2fa-49f8-abad-6c2541ea9e5e CLINVAR:92741 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 167e430d-ba8e-4a5a-9dcd-4980e8b1cb14 CLINVAR:92741 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f60e04cf-0876-4355-b3ce-a9410c5d9b18 CLINVAR:306914 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen aff6ebcf-d818-4e99-9d32-bc0ac16cb208 CLINVAR:306914 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a61d61d8-db7d-43a2-873e-13a6ab5b5d75 CLINVAR:102703 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f54fb75f-25e8-4b2f-be86-3967ea68b45f CLINVAR:102703 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cfb033ae-f597-49df-8ca9-16f3fe95bb39 CLINVAR:102687 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen adaa327a-244f-4e86-8e00-367deb5ec3e9 CLINVAR:102687 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 40fe3d65-7ee9-4f8c-be55-ea5f0464667b CLINVAR:102716 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7eeefaa0-7cd3-4ee9-990c-1dba38cc0267 CLINVAR:102716 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 673308df-42d6-4ba2-a26b-dd862903c95e CLINVAR:102601 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c3ffc772-a992-485e-b3eb-b1c0372ebb09 CLINVAR:102601 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c90b78f4-27bf-4fb0-bcc1-3c86cf4e29d4 CLINVAR:102729 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8bbb03f9-5abe-497c-9e3b-54715982b491 CLINVAR:102729 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2eae10a3-bcce-4bd0-bea8-7fc3b74a2e56 CLINVAR:102871 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e5120661-f8fe-42a8-944e-1ff181edb7fc CLINVAR:102871 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 35cc2a24-2ee5-4391-8843-a40969a4b142 CLINVAR:92743 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8b40c764-1c33-4e19-a0a3-5a40762d3510 CLINVAR:92743 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e9672ce9-b338-4c57-9f70-3fda169a135e CLINVAR:102706 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 98ab347a-7b25-4562-a801-7db1c21b5303 CLINVAR:102706 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c4475277-d38c-4acc-8c7f-627c983190be CLINVAR:120273 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 29b0ed7f-fc16-4bb4-b3d4-50b90a55b36a CLINVAR:120273 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2658a663-b3ec-45a2-8e02-f6fbb3c227d9 CLINVAR:92729 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 29ab31c2-0e8a-457e-89e2-be16d386bfe8 CLINVAR:92729 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 917bbb4d-3ea7-4346-825b-e62472e1287d CLINVAR:598 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 587360c4-575f-46bf-bf0c-6c722e62988f CLINVAR:598 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8fea3321-3a7b-40f6-88e8-ea9daa210668 CLINVAR:636 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 846ccfd4-1b06-40be-bc10-2fbac95b4761 CLINVAR:636 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8421cce9-29be-443c-8821-7e447d6996e9 CLINVAR:120287 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 01dd467a-36af-4f96-9b04-12a6ff1c2440 CLINVAR:120287 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dcefcde8-e53a-4b96-a39b-d01de38ae135 CLINVAR:92740 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen dadd91ee-bffc-40c9-8cfb-f3ff10aac428 CLINVAR:92740 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 349dd20e-3fb1-4a9f-88ce-d7bcd8e45eeb CLINVAR:120271 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3be8154e-45f0-4975-9f33-186cb1529f16 CLINVAR:120271 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1f473ca7-407f-4285-af09-7e736a3ad068 CLINVAR:225135 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6701d420-210c-4e6b-b3d3-7d951c09b894 CLINVAR:225135 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8a81009b-d40a-40fe-8ab6-3a7d6d05fee6 CLINVAR:102821 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 14855e45-332b-43e5-842d-6f333e1b3b94 CLINVAR:102821 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9aca7500-af81-4259-9207-8df635eb2350 CLINVAR:603 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e8d583ab-4db9-449d-be3a-deed8f86f387 CLINVAR:603 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4fc521f4-b392-43d3-9dfc-ba504c58f7b8 CLINVAR:599 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2beab416-1400-4b1f-a431-74605933cc53 CLINVAR:599 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 88d2231e-5a1d-447e-a572-0f52d5676ea1 CLINVAR:632 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4573a8b6-5371-4d50-a05d-bdd0ee38e40b CLINVAR:632 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 362cca62-f60c-4b2b-a8bf-db14e90f56ae CLINVAR:102483 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f34f712c-eca9-4ed9-9e29-22d25d404b77 CLINVAR:102483 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e66b19e7-519b-426f-8aa9-e33e2acde114 CLINVAR:102557 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5ab7333d-da33-44dc-a4fd-9dcf1db47da9 CLINVAR:102557 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3d40e880-517f-44fe-9d69-adafde0b4a27 CLINVAR:102696 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 84cccfa9-d4e5-4c05-9d9e-b34d80755471 CLINVAR:102696 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9593aa50-2302-4ec8-88a3-115a2ae624bf CLINVAR:102913 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e79ec4d2-7818-4a22-94b1-ee9905e5fcd7 CLINVAR:102913 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen faa2cbf6-2a99-40dd-b10b-7712059c03a7 CLINVAR:281073 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 227c26c7-d54a-4e67-b16f-ad5784745be3 CLINVAR:281073 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e6331f4d-bd16-4957-a1d7-537a414be796 CLINVAR:439228 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a07ae3f8-459b-4a0a-b231-8306b24da815 CLINVAR:439228 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bd7270aa-4229-407c-8ba5-2006a44f7ea6 CLINVAR:92742 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 50cae64a-480b-4ffa-be3f-2605bae13899 CLINVAR:92742 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 97a7cb93-04bf-4908-9363-8f52f336189a CLINVAR:577 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b44a5a40-6ca6-413b-b1bd-b23986a59cd4 CLINVAR:577 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 23c2eaf7-82c8-4614-bd65-a95ce664460d CLINVAR:596 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1f7ec995-5700-4635-85a0-d283a24a4c36 CLINVAR:596 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3e91543b-20c8-41c6-a1a6-40da108b5b27 CLINVAR:102650 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 01adf8a7-2a82-4dc1-a35a-bebc1a839d6b CLINVAR:102650 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fa1509ab-525f-4afc-aed7-060c2054d281 CLINVAR:607 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b9baa9d4-1813-4123-88d2-035a7e5fc9d1 CLINVAR:607 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7987491f-d728-4a78-a56f-46e33f0f9c9f CLINVAR:617 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 733d31c1-9eaf-437e-b8ed-52450bc40351 CLINVAR:617 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 110b5d1b-0db9-4403-bf47-2306c8b2ecba CLINVAR:610 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8c59286a-ed65-422e-a555-d310c1343a60 CLINVAR:610 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cdf8566b-e3e5-470b-aa34-c9b5c0738637 CLINVAR:576 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen bf6b06ba-496e-4331-b7cc-b2a3a46210f5 CLINVAR:576 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7e714954-2074-45fe-a3c7-ea55424aecb6 CLINVAR:593 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 23b84a11-93fb-44f5-aedd-85e80f299b3a CLINVAR:593 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3dbf48d9-a929-4188-9a78-b26403fa6442 CLINVAR:582 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e741428c-e554-48ec-a87f-ed0307e868cf CLINVAR:582 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ba11cabc-00d1-4c4a-a669-ad62abd8d706 CLINVAR:592 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c6f86be5-a5d1-4b04-983f-9c43da2dc5dd CLINVAR:592 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b5ca621d-2735-4511-a418-93d7d3985e69 CLINVAR:102632 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 65d5e3cd-1650-4ce0-85b3-21a92570d9ee CLINVAR:102632 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 63d80265-04d0-4d18-b60b-7ca27be2c578 CLINVAR:612 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a39533af-300c-4e61-874f-2b56ecd63421 CLINVAR:612 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 30052893-4a1c-4eb6-a559-82ee34c5bdd2 CLINVAR:376937 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6b2d2cb0-70a3-44d0-9302-4422b18511be CLINVAR:376937 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fc3a68e8-c2b1-4d81-95d5-d6edac7aa30a CLINVAR:619 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen fa986f1c-d961-43b8-8d7e-a7e57b03b0d7 CLINVAR:619 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 484b834a-1643-4f87-bd13-fb2fbcab9ae7 CLINVAR:102784 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c8221291-7340-4c70-952a-9c98234d8cb8 CLINVAR:102784 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6070010f-5466-4910-9733-43caa5f1b18c CLINVAR:628 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b78a4a17-4e4c-4af6-a596-6248a4f0048e CLINVAR:628 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9bc06e6d-e937-4d51-b6ee-79f93fce8105 CLINVAR:594 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a01f6e58-567a-442b-95e8-8bd775b3997c CLINVAR:594 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 10934692-c8bb-4782-b863-3b18e26774af CLINVAR:102803 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9c02a97b-4411-4916-a687-2b0477d996e6 CLINVAR:102803 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 895d71dc-d6ce-47d9-b7af-37348b8dcc08 CLINVAR:102804 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a8b03f35-3d31-45b2-b2f8-69f558b77154 CLINVAR:102804 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4e9ff2a2-bb2b-4729-8ce6-78b34e124d04 CLINVAR:92731 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b126639c-f635-4ab3-85f7-63d5b8679dae CLINVAR:92731 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aa7f2277-2acc-4b0f-8970-2ff97735d0c2 CLINVAR:601 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4e9394bc-21e6-4c1d-b6f2-533fe2b3d879 CLINVAR:601 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ec460bfb-43d6-4528-8b90-c6a03ebb9a6f CLINVAR:625 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b0fb4f5f-7fe2-4b97-9344-800a0c4e8306 CLINVAR:625 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9ab369b0-3939-41e6-a96e-4c81863f620b CLINVAR:92751 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 69ffe0d2-48ac-42a7-b381-8a726f7968b6 CLINVAR:92751 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5fe323cc-d86c-4080-b07e-c888030708d7 CLINVAR:588 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a6cec5fe-fe38-4be7-9e6c-331b093f9ac6 CLINVAR:588 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ba4af47f-ad23-4e49-b0d3-24aaac61f242 CLINVAR:584 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b16d5bad-6711-4969-ae74-dd939a3e5390 CLINVAR:584 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 63130bfe-22de-45b2-94a6-dfbab47a7b3b CLINVAR:102824 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f6fc4961-ace0-42b8-881f-4f014a8e4474 CLINVAR:102824 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3e7bf563-75b9-49a3-b23d-2b2d607e03e3 CLINVAR:92747 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 722b04c4-ddd9-4ec5-8965-9e19b38237f6 CLINVAR:92747 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2f2f83b5-41b0-414d-8a9f-d8ee84816176 CLINVAR:92753 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen bc6a6bd8-61f7-4ce1-93e2-429a3bbc3462 CLINVAR:92753 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 10f7433f-c763-4ba2-b9e7-5aefec0cd1c6 CLINVAR:618 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ab62deef-0368-4448-9196-7ebc2427cfa3 CLINVAR:618 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 00e7a482-7fe4-4445-8574-0c9c7a141992 CLINVAR:102720 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e23830cb-2e15-4401-8b55-b7e66a8cb640 CLINVAR:102720 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4ed08479-2057-4102-961e-85af1d8f1af0 CLINVAR:92744 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2e74fb4d-b5a2-4197-a249-248ecde11ec1 CLINVAR:92744 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 485bfed7-a929-4f18-9c51-08d6be56e0b6 CLINVAR:102698 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5b7ac800-e5bd-48ef-a9cb-2ad4b32cbfd5 CLINVAR:102698 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f16d6bf6-7a94-4624-868c-168417e9889e CLINVAR:595 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c284bf00-80d0-4ae7-99ed-59d79f1559d1 CLINVAR:595 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 40f44cd3-6269-40ca-a9d0-8b43a8504209 CLINVAR:142269 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9819c087-f5ba-4ffa-9f91-c9b47da50d81 CLINVAR:142269 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 144eed32-75de-4c6e-9b92-65548984b853 CLINVAR:185989 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 55b9ca04-1b92-4f31-a519-6e6625abf0a6 CLINVAR:185989 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5b09626c-ec99-412d-b3fc-b7be63beaa23 CLINVAR:142681 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0d3c5b1e-f13f-4ac9-b89b-09824c46e011 CLINVAR:142681 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ba6fb92d-8919-4e4a-952e-9cdb5d1ee922 CLINVAR:127687 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3b5f7cb4-3ab7-42e6-9d34-3c269526127e CLINVAR:127687 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ec47de61-49e2-44b0-9224-b5d0cd5167e7 CLINVAR:187673 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 78813347-6cbb-4c7a-a6bd-20d1adb083fd CLINVAR:187673 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen de6d0f8b-1a55-415f-b4ea-e3271e49abea CLINVAR:7844 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a9f6e8d7-73ff-4c76-a6d6-1fbdcea8fc36 CLINVAR:7844 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8586c047-349d-4414-ac3e-1d77c50fbc4a CLINVAR:404147 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 86a9e772-a3da-41be-880a-90b47c7e66d6 CLINVAR:404147 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f3023822-6f31-4075-92c4-aeea723323b3 CLINVAR:184104 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3fd1b663-5c35-4cba-8ee4-818b7089d079 CLINVAR:184104 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 28a1fa92-df4a-4011-a649-60b7234dc8f3 CLINVAR:187590 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 47434291-dc5a-4e24-8740-e6df96abb817 CLINVAR:187590 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 17442a34-d89a-4a78-bf70-8d94bde4ab4a CLINVAR:189462 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d354dbcf-df47-4e30-98c9-a1f94a2c59e0 CLINVAR:189462 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f449f248-503b-493b-8c3f-c1f5e55ed7ed CLINVAR:189441 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 379a32b5-7063-4e5b-b4af-9d7bfddc0875 CLINVAR:189441 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 778bbeee-f0ef-4ea2-bf3f-e52287b9dbff CLINVAR:187657 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 583741c2-2fe0-4a39-8fce-54595e41c26c CLINVAR:187657 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a4737d1b-0043-4919-be2c-6d24bc8a66f5 CLINVAR:185213 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ae92d653-ca20-48a9-ba59-1b2cdc54aa7c CLINVAR:185213 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4f972c42-2add-4d4f-aeba-87354b1f5043 CLINVAR:189411 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 729d47ea-9be0-49e7-b02f-63381b73d886 CLINVAR:189411 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5da8d602-de27-4c87-987a-2900f5437b34 CLINVAR:141654 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 73ec0dae-8af0-4d77-bc4a-2c2cf962d256 CLINVAR:141654 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b1ad9003-1e4f-4a08-b682-240e19db2dbd CLINVAR:141485 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 02ff4809-b687-43b6-94fc-1a4b1a501b66 CLINVAR:141485 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5c2bae6d-0c3a-44d2-8218-dc3c643e032c CLINVAR:220007 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a8dbd8d2-8462-4e17-864d-c4e9be5d86b5 CLINVAR:220007 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9fb3c17a-5d52-4a72-8d3e-ae081b28dbde CLINVAR:404140 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 99498e82-4463-4995-bf5a-88d70c138d9c CLINVAR:404140 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 166c214a-c671-4f01-9294-1fc378413b30 CLINVAR:92816 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 176f10a5-2382-4b25-821f-3710200d1802 CLINVAR:92816 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 05baff79-fe4c-41e7-ac53-d55d50dac766 CLINVAR:142423 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a5452af2-cefa-4481-bb10-44be9321165f CLINVAR:142423 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2f1107ea-2f3b-4bbe-92c0-5f32675c2fc8 CLINVAR:183722 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4baacf20-6cb9-4af0-b451-3bc55e1609ad CLINVAR:183722 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f8e9f6ed-4fd8-4f50-97c0-61c6b93f748b CLINVAR:231916 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 20ee1c7e-9f6b-493d-9de0-b6aaf0114537 CLINVAR:231916 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1e0c60e8-7bb0-4dac-af86-a14711e817ad CLINVAR:7829 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen daabe12a-979b-4ad0-ac6c-0d393d9b4a15 CLINVAR:7829 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9b114a31-6969-4a4d-92b7-7874681eaff7 CLINVAR:189406 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b3384d6f-1c50-4cf6-8418-d219900dff12 CLINVAR:189406 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4c7b25a3-ea25-4798-aa3e-951224b827ee CLINVAR:189500 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1f103ffc-f486-45eb-9b6d-52a280314f71 CLINVAR:189500 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 721a4d40-5f06-4249-9714-1681b31ebbe4 CLINVAR:92822 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 137ee03d-2b47-42cd-8a34-4bb9ae0eb9ee CLINVAR:92822 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6faec6bb-b2e1-42d6-829b-8818688f6856 CLINVAR:127674 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 902469ea-0d94-4716-9fa1-cf87b8697db8 CLINVAR:127674 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4e0a356b-ffba-452c-aa3d-3fef302025d0 CLINVAR:189424 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 565ca532-5771-4969-b0cd-95ed66643678 CLINVAR:189424 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9dcef224-1aa1-46da-ac00-5ac84ee50b77 CLINVAR:7824 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 035a040e-4000-4f61-9f4d-d17d3c790be9 CLINVAR:7824 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d2472cfa-9ab3-494b-9829-6dad4c65d308 CLINVAR:7814 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 575f1e8e-501f-4798-93aa-0be6834d80c3 CLINVAR:7814 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4dcd9316-e9c6-4ac2-bae2-8e0d864221da CLINVAR:7834 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen dd1e1222-a4ef-4671-8afd-cd3d65712cde CLINVAR:7834 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2182b27b-993a-419f-819b-8e331e68e4a6 CLINVAR:7815 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 21444db4-525e-48d3-b0be-d13c35f0f6b9 CLINVAR:7815 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ead0d614-3e0c-4974-adf6-9a4384033d0d CLINVAR:7816 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 80a0aa33-ecc6-44b7-9df3-c2211cb6c97e CLINVAR:7816 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 654364fa-4b32-4319-874d-301412b6942c CLINVAR:142220 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7c978de6-ca3f-4bca-9c9b-36a89eb43bf0 CLINVAR:142220 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 783db377-cc94-4f26-a160-6c10a20928d3 CLINVAR:6613 biolink:genetically_associated_with MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 820da692-62e4-4d6d-8cb8-8c63bfec1e2f CLINVAR:6613 biolink:is_sequence_variant_of HGNC:2180 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen daa74805-793d-4a49-a766-20dd1dc4fc4b CLINVAR:585322 biolink:genetically_associated_with MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d672e768-7207-4ca3-8787-e80df7f3ae78 CLINVAR:585322 biolink:is_sequence_variant_of HGNC:4284 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bbf96fdf-73df-4a14-aea5-6ca7d034b661 CLINVAR:585327 biolink:genetically_associated_with MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fca8c251-44f8-4c23-8565-61e97009f8bd CLINVAR:585327 biolink:is_sequence_variant_of HGNC:4284 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 30cb9ed3-060a-408d-901c-e3032338fdfe CLINVAR:17014 biolink:causes MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3f95018b-c9cd-455c-a584-6067a9563cb3 CLINVAR:17014 biolink:is_sequence_variant_of HGNC:4284 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0689fd23-630f-4462-8e97-a4b9ea36cc41 CLINVAR:505302 biolink:associated_with_increased_likelihood_of MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen bd1233a1-76dc-4a0a-878c-63355b513db4 CLINVAR:505302 biolink:is_sequence_variant_of HGNC:6298 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cdfeaa7d-64ae-4f1c-b567-07a7bcd9e72b CLINVAR:17004 biolink:causes MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0afbbc30-db80-4e11-9fa6-1d2b8174b700 CLINVAR:17004 biolink:is_sequence_variant_of HGNC:4284 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6360aee1-880b-439a-865b-3f0772117207 CLINVAR:44740 biolink:associated_with_increased_likelihood_of MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a10540bb-bfb2-4c61-b690-428c966ae013 CLINVAR:44740 biolink:is_sequence_variant_of HGNC:4284 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2a489a51-1de0-4d98-958c-a09bd0a01652 CLINVAR:177859 biolink:associated_with_increased_likelihood_of MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 248d8860-dd39-466d-8625-41dfd27ad975 CLINVAR:177859 biolink:is_sequence_variant_of HGNC:12601 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8d72e4af-2c7f-40ef-a04e-4b0da5302ede CLINVAR:506273 biolink:causes MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 02e0a5e6-75d2-44ff-a64f-6d6c1ae93104 CLINVAR:506273 biolink:is_sequence_variant_of HGNC:12601 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1f901474-0f70-4eb2-aeee-bc0801279804 CLINVAR:166499 biolink:genetically_associated_with MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1934d319-cc11-4f49-8185-613220f851ad CLINVAR:166499 biolink:is_sequence_variant_of HGNC:12601 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1f21e1f6-26e8-4455-afdf-902736c8c37e CLINVAR:198366 biolink:genetically_associated_with MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d9df33b3-49c0-4f28-b00e-317d2b158870 CLINVAR:198366 biolink:is_sequence_variant_of HGNC:12601 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 59ae0f40-7b92-4920-814e-bd86a52d5072 CLINVAR:43546 biolink:genetically_associated_with MONDO:0010134 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 91e6db5e-687a-4d18-8c39-131e1ed234e3 CLINVAR:43546 biolink:is_sequence_variant_of HGNC:8818 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 20ca1aa0-f660-4ea3-916d-cbf1d550ced4 CLINVAR:179542 biolink:genetically_associated_with MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a5c43535-34dd-4e9c-b3ba-961d0492805b CLINVAR:179542 biolink:is_sequence_variant_of HGNC:12601 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aba0cb58-90d1-4cf7-a09a-752701ceeb23 CLINVAR:517357 biolink:genetically_associated_with MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6bf97ea8-eb04-4051-b53d-b2dfcaedf5b3 CLINVAR:517357 biolink:is_sequence_variant_of HGNC:7606 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a065b121-5dbe-4690-9e7b-a37149027cb1 CLINVAR:178957 biolink:causes MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3826013a-691d-4746-9e5f-5abe6f729423 CLINVAR:178957 biolink:is_sequence_variant_of HGNC:7605 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e482c14d-a307-4e11-bf32-e7cd63689429 CLINVAR:228491 biolink:associated_with_increased_likelihood_of MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 72699025-e7cb-4096-a32a-779da7a6b2f3 CLINVAR:228491 biolink:is_sequence_variant_of HGNC:13733 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7cd1f61f-de16-4f8d-970e-5e10516a3bb2 CLINVAR:161326 biolink:associated_with_increased_likelihood_of MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen de323113-f875-45c2-b0e7-f44d5d9552bb CLINVAR:161326 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 33c390bc-cbad-4461-898f-5bcc152e9c74 CLINVAR:43085 biolink:associated_with_increased_likelihood_of MONDO:0005021 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 265bd1c2-bda7-4a8f-aa25-f22179adaa5f CLINVAR:43085 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen caf130db-3be9-4408-87ac-eead8914bf9a CLINVAR:43029 biolink:genetically_associated_with MONDO:0004994 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8fe25f10-5376-4722-94e0-8e6ae028094e CLINVAR:43029 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 81ad4294-8d9a-4051-a157-5f471b730d80 CLINVAR:42965 biolink:associated_with_increased_likelihood_of MONDO:0005021 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7595bf0f-e0d4-4fad-8396-af0353a1662d CLINVAR:42965 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3ed5bfce-cf3e-4432-bf1c-370f9271ac4b CLINVAR:43011 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen da34bcf7-120a-410c-877b-68871c02ec34 CLINVAR:43011 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 83d10713-d813-4d46-bf71-eda5251c482d CLINVAR:43005 biolink:genetically_associated_with MONDO:0005021 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen db2671fa-70f7-4b73-84fa-626b5d56c5b0 CLINVAR:43005 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d50ee099-2fee-4dc5-9752-8a3a0f10516d CLINVAR:43003 biolink:associated_with_increased_likelihood_of MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e12cee86-042d-4510-a09d-6cdc964d81e7 CLINVAR:43003 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dceb6a8c-7bc8-4667-89d6-2f081ab52f3c CLINVAR:42992 biolink:causes MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a73e32b5-d82b-42ed-935f-56dd9c024c6f CLINVAR:42992 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 59ab2667-2bd3-4a6f-a284-a1eb7fd04d3f CLINVAR:164294 biolink:causes MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b3013f2e-4e31-459c-87f1-40ac70649644 CLINVAR:164294 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 21e7d624-5b59-4aab-9cb5-884c82923e36 CLINVAR:43088 biolink:associated_with_increased_likelihood_of MONDO:0005021 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2fa1662c-b196-4484-a051-4f542c4aa967 CLINVAR:43088 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3c4a5b45-7bc2-4813-ba49-bb45642c91d0 CLINVAR:42968 biolink:genetically_associated_with MONDO:0009144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e937a429-3bc7-4f81-b0b5-0cdde033ab90 CLINVAR:42968 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 735e6c54-f111-4e3b-be8d-89b2547ebc92 CLINVAR:42950 biolink:associated_with_increased_likelihood_of MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 210686fe-b7b9-4bbc-b6b1-130dfa4219ee CLINVAR:42950 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen edf18d32-4b7c-473c-a0fc-bcba4db612b5 CLINVAR:155814 biolink:causes MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b7d0af9a-c52c-4d54-bf89-8cdb4991a5f6 CLINVAR:155814 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0cf5c342-7a3b-4939-9b77-f38a9bb4946f CLINVAR:177753 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c859b689-cabc-4e44-851d-3cda410bced1 CLINVAR:177753 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 82424570-c696-429c-bb99-8a9c8bcc806c CLINVAR:42934 biolink:associated_with_increased_likelihood_of MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e7482b88-1422-4986-8ab5-c677c189b684 CLINVAR:42934 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d538b577-73d2-4823-8306-0aecd2689d32 CLINVAR:14097 biolink:causes MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2b1a733b-24f6-48c4-b0f8-a55bbcc16c18 CLINVAR:14097 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 00cf51e0-d05d-4d99-9df6-053aea8568ed CLINVAR:14125 biolink:causes MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5b3e6a7c-4d16-495e-8166-f768c2c4f713 CLINVAR:14125 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 166c853d-20ff-4aa4-85be-cb35870a5148 CLINVAR:42922 biolink:causes MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 17d9d031-1e85-437c-8357-5dbd4b3b3460 CLINVAR:42922 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 376a3d5c-62dd-4f7e-bd6a-20b97bafea28 CLINVAR:14120 biolink:causes MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 650869d7-9d0d-41f5-bb9f-0921c6a0560c CLINVAR:14120 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 55aa5cc9-93bc-4896-b3a7-dd1132ad97ee CLINVAR:177757 biolink:causes MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 47744afe-04d8-401a-b919-750073fbc9a0 CLINVAR:177757 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 38a246ed-bd7d-46f2-a1ef-69b990bf81b7 CLINVAR:42913 biolink:associated_with_increased_likelihood_of MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4fb85445-9ea6-414b-85db-52332dbc2ed2 CLINVAR:42913 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b6013485-e2bb-459d-a9aa-6164754ce115 CLINVAR:42910 biolink:causes MONDO:0005201 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ee46fabe-d751-4c05-9ed6-2b5e73425aef CLINVAR:42910 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6ed9ef89-1988-4aae-bbaa-b42c97d079e3 CLINVAR:177665 biolink:causes MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ed1f5946-5ff7-44c9-9f1d-890d6c96f644 CLINVAR:177665 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cf426ee2-5ba1-47e6-afd2-bd694382bf0a CLINVAR:14098 biolink:causes MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 72113604-0a11-4ca6-8170-ee33625c441e CLINVAR:14098 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7c055d52-5079-48be-8726-c7c9c9d4feda CLINVAR:164342 biolink:causes MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d0fc7cc3-a629-4070-ad49-143e6d5e893f CLINVAR:164342 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e9269781-8426-4075-8825-40390a609b3b CLINVAR:14095 biolink:causes MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ba9553c1-ff1e-43c7-b4fc-a64d6223d57a CLINVAR:14095 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3f40d240-37cb-4a81-b076-7901bb6caf96 CLINVAR:42885 biolink:causes MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6485c3e6-95d7-470e-9d55-d955d6c673e8 CLINVAR:42885 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6916f51b-c670-4344-b156-58d73b96b68d CLINVAR:43076 biolink:genetically_associated_with MONDO:0005021 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 49cd3545-f923-4ef3-9e37-05742fbb6175 CLINVAR:43076 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 73c7bf30-4cc7-4f9c-8fba-85bce5ae5d0e CLINVAR:43069 biolink:associated_with_increased_likelihood_of MONDO:0005021 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen abdc2914-e1f7-42dc-bd93-443992de5125 CLINVAR:43069 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0d2d4698-436c-461d-8de6-3e4b94486fc6 CLINVAR:177697 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 52939aec-a3fa-4aec-98be-f30ec4bf7c58 CLINVAR:177697 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7fbfae98-e9c9-4a5a-adfc-2df541b5b2a5 CLINVAR:177629 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d71e9f34-6ab0-49ee-8b9e-92a59c322d24 CLINVAR:177629 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0bdc524b-54f4-436f-b552-232e9f8d925f CLINVAR:43059 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen eb5a7711-cf81-493a-bf1d-95f927cfc8f8 CLINVAR:43059 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fc57c604-9c63-4711-89c9-005e53b3e810 CLINVAR:14107 biolink:causes MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 09760c5c-d2af-44bc-91a0-2da17dd47288 CLINVAR:14107 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3d339c24-5658-4e0d-9320-1fe0389fdf4d CLINVAR:14104 biolink:causes MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 223a331a-064c-4e36-b83e-283ba5a7dd71 CLINVAR:14104 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b2cf0ddb-c8de-4d7c-bd50-42edebfc7edc CLINVAR:14105 biolink:causes MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 80f3c0f0-9b15-4190-beb4-e3e38e15efce CLINVAR:14105 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6fd2e636-8808-4133-b716-4ebbdd64bf73 CLINVAR:42875 biolink:causes MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 802f254c-0962-4f05-851a-9eb34dde5f88 CLINVAR:42875 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 079adb6f-3012-4a9d-8271-4915879da045 CLINVAR:14090 biolink:causes MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 725e4ec6-4655-4664-8c69-efe730a33edb CLINVAR:14090 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 388c315c-58f7-4441-b361-81050a1f6a18 CLINVAR:14108 biolink:causes MONDO:0005021 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen abf750b7-dcba-4daf-9112-2906038805fe CLINVAR:14108 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b6fe849f-f6af-478e-8f47-bdc0c999f20d CLINVAR:36642 biolink:causes MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9ff7d9a1-9796-42c8-80b0-e3049e9c82cc CLINVAR:36642 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 955027ad-e37b-46ac-bf5a-1053ab7634a4 CLINVAR:177817 biolink:genetically_associated_with MONDO:0004994 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen cfcb4588-a6c1-4d33-8273-1726dbac3be7 CLINVAR:177817 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 98ddf687-5ca3-4ce8-be06-28c3c86dcaec CLINVAR:14087 biolink:causes MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8c4270dd-3ef1-41fe-91ac-53449530dad0 CLINVAR:14087 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e411599e-cfac-4e15-987d-0c0e384d7037 CLINVAR:14102 biolink:causes MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b22dfa55-fcc4-4fa7-9ab6-7bd3df0cfd3a CLINVAR:14102 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 24ee30a2-2b3c-40dd-b91f-e5abf0ac90d8 CLINVAR:42838 biolink:causes MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ad9954a8-de4e-458e-ae3a-cd142382a8fa CLINVAR:42838 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c97aae17-d555-45f8-8533-4f7b69df34e8 CLINVAR:164378 biolink:associated_with_increased_likelihood_of MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3f40aed5-1538-46bb-9575-ec08eafd9c2b CLINVAR:164378 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5d91699c-2e1f-411b-999e-a9c58250a446 CLINVAR:42822 biolink:associated_with_increased_likelihood_of MONDO:0005021 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8902f8d5-a97a-4c90-8a3e-37d713d3fb2b CLINVAR:42822 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 527aea46-c055-4724-acc1-bd58a770f0cd CLINVAR:43106 biolink:causes MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen aa7e74a0-2da9-476b-881c-cadf5398059a CLINVAR:43106 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 55b9ddf1-4f47-4bde-b074-270df3949b73 CLINVAR:43006 biolink:associated_with_increased_likelihood_of MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f81898bf-e280-412f-ac72-555e1c33b79d CLINVAR:43006 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d878d69a-cb23-4538-bcb7-9f12e055aedd CLINVAR:40649 biolink:causes MONDO:0018997 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 81187bec-ade9-461a-935d-bb835b873d46 CLINVAR:40649 biolink:is_sequence_variant_of HGNC:11187 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c61169a2-0469-4562-8e30-e0af6b9953ae CLINVAR:181528 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0715232e-8d33-4de8-80b2-b05320082d89 CLINVAR:181528 biolink:is_sequence_variant_of HGNC:15454 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f5cd2986-cea4-478f-a628-904932634cf4 CLINVAR:40634 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 56b7ae2c-95d0-4e90-9b63-7b0d5ae441dc CLINVAR:40634 biolink:is_sequence_variant_of HGNC:15454 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5e153e66-c77c-4be6-98cf-5df451fbc1f9 CLINVAR:6821 biolink:causes MONDO:0054637 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 90b8eb48-3ab7-4d50-b228-82136f721065 CLINVAR:6821 biolink:is_sequence_variant_of HGNC:15454 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen be64df34-1fbd-46fe-a588-64edb2665847 CLINVAR:40601 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 52f5dd95-54a0-425d-a09f-007aff76ad73 CLINVAR:40601 biolink:is_sequence_variant_of HGNC:9829 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a2c1357b-5574-4ccf-af87-269c834e3f3a CLINVAR:40607 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1092258b-5bca-42a4-9c5f-12714028a317 CLINVAR:40607 biolink:is_sequence_variant_of HGNC:9829 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b8f0d2ca-ca1b-4551-a559-58c90d5281e5 CLINVAR:40600 biolink:associated_with_increased_likelihood_of MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 61a0603e-f3d3-4bb7-90d6-c20cc20bb179 CLINVAR:40600 biolink:is_sequence_variant_of HGNC:9829 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3725b0e1-eda5-4427-8b59-23745dcb826e CLINVAR:40613 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 379d8e4a-e3ce-4005-9fc9-c2a80d438682 CLINVAR:40613 biolink:is_sequence_variant_of HGNC:9829 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dce57b26-bf93-49c7-a306-2c8f0e2c4423 CLINVAR:40614 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ae788a98-2c5a-43e8-a75f-77322dfa3ce2 CLINVAR:40614 biolink:is_sequence_variant_of HGNC:9829 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d939acb5-d8d1-49a1-9e93-74442bc34b2e CLINVAR:40520 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1424304c-cb50-4149-819c-4ad04fa8779d CLINVAR:40520 biolink:is_sequence_variant_of HGNC:9644 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9e90a394-871d-4ab8-b8ed-32e0696faf16 CLINVAR:40567 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6d0a3d23-1f9c-44ba-9928-0a5603f41d0d CLINVAR:40567 biolink:is_sequence_variant_of HGNC:9644 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 393949df-135a-4345-92fd-5b8fab50efa7 CLINVAR:40522 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9681562e-32f8-43ee-ab81-eb56f92ca5a2 CLINVAR:40522 biolink:is_sequence_variant_of HGNC:9644 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d1029310-32b2-49bd-8d1e-e0c3312392a9 CLINVAR:13344 biolink:causes MONDO:0007893 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d26f5569-0c3a-4f19-833c-e14f1ed6a18b CLINVAR:13344 biolink:is_sequence_variant_of HGNC:9644 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e989a34e-e4cc-449b-81c5-88ce242c6031 CLINVAR:40504 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 01ba4e60-b80e-4a24-b6e3-9ce2bf93b1f9 CLINVAR:40504 biolink:is_sequence_variant_of HGNC:9644 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b4740406-638e-4c87-9ead-cad0e3a987f4 CLINVAR:40484 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen cecfbef0-0e50-4bb7-b991-04f4d8f5776f CLINVAR:40484 biolink:is_sequence_variant_of HGNC:9644 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 400bc45d-791b-4efd-be03-45b30a83de05 CLINVAR:46242 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3cec6ed3-d2f3-44ca-9d41-20b9be3d499f CLINVAR:46242 biolink:is_sequence_variant_of HGNC:6842 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f090f34f-696a-41ff-9f39-0c9a1f7564f4 CLINVAR:40786 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e31a2e4f-ae38-42d5-b4a5-43695136663d CLINVAR:40786 biolink:is_sequence_variant_of HGNC:6842 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c1bdb718-9f31-4788-a150-f50cb6347133 CLINVAR:40813 biolink:causes MONDO:0015280 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen edbb2d4f-1b15-4fa8-9a45-772fe2b307d6 CLINVAR:40813 biolink:is_sequence_variant_of HGNC:6842 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8cfac772-ed0c-4ce4-90b3-1b0bd8b5855d CLINVAR:40779 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 48b29d48-e1ee-46b6-8b6e-23d090aa614b CLINVAR:40779 biolink:is_sequence_variant_of HGNC:6840 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 02fdabf2-e93e-4115-8ae9-ccef26d6db63 CLINVAR:40452 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 68416675-1945-4d02-abc7-d41b9061fa72 CLINVAR:40452 biolink:is_sequence_variant_of HGNC:6407 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3cb4dc8f-957d-4d37-8b07-7153edc3b777 CLINVAR:12594 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1bcb1f8e-5d66-49e1-80fc-2063d4797284 CLINVAR:12594 biolink:is_sequence_variant_of HGNC:6407 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b44c2259-c7a7-4cb2-9a4b-0eca63d53292 CLINVAR:40435 biolink:associated_with_increased_likelihood_of MONDO:0009026 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 67a31d4e-78f9-4e2c-ba67-352fd7fd7214 CLINVAR:40435 biolink:is_sequence_variant_of HGNC:5173 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 808d0d2b-2391-4720-b169-f0967dade319 CLINVAR:40439 biolink:genetically_associated_with MONDO:0009026 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 549df217-b6a4-498d-8738-f54c9e04ea3e CLINVAR:40439 biolink:is_sequence_variant_of HGNC:5173 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c9a77e50-150e-47d0-9005-5c6784dcc097 CLINVAR:177672 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3359a1a9-0b5e-4b0d-8cc2-80a2d3118915 CLINVAR:177672 biolink:is_sequence_variant_of HGNC:1097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 252ae6ed-6bf9-403a-932f-b75a0023dbb0 CLINVAR:40380 biolink:associated_with_increased_likelihood_of MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen fdd96910-7ee1-4055-9be2-1abaff50c820 CLINVAR:40380 biolink:is_sequence_variant_of HGNC:1097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a3c50a38-459a-4c74-9c40-b83b8359bcf2 CLINVAR:40387 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen cef8d88f-4ef3-44f3-9e9a-6bcb3ff91ee7 CLINVAR:40387 biolink:is_sequence_variant_of HGNC:1097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b353d197-7749-47e7-91fc-9e78865e42ab CLINVAR:12586 biolink:causes MONDO:0015280 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen bcf812c5-d871-4cc8-8ca0-8f1857d9edeb CLINVAR:12586 biolink:is_sequence_variant_of HGNC:6407 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d6944698-b222-471f-b8e4-e103c54fcf1f CLINVAR:40454 biolink:causes MONDO:0018997 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ed20c259-680f-46ee-b658-cd40b462e755 CLINVAR:40454 biolink:is_sequence_variant_of HGNC:6407 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8e0ab3c9-cb76-4161-bc5b-d0047aa3de54 CLINVAR:12587 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1e689e4e-29e9-4be4-8e28-5ff2c63d21bd CLINVAR:12587 biolink:is_sequence_variant_of HGNC:6407 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b65d54d0-49db-4fba-863f-4852a057267f CLINVAR:12588 biolink:causes MONDO:0018997 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e5bd02a0-d39c-4d35-b161-7925a5aa70ac CLINVAR:12588 biolink:is_sequence_variant_of HGNC:6407 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3709f268-0b4f-4d58-82ad-c5954c50971b CLINVAR:12589 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9d93319a-92e5-4286-b334-5aaee1bcf078 CLINVAR:12589 biolink:is_sequence_variant_of HGNC:6407 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e54e5012-0d8c-44fe-bcbd-d1e3c71dac15 CLINVAR:12610 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8d74a850-5daf-42ca-9db7-264bd65b240d CLINVAR:12610 biolink:is_sequence_variant_of HGNC:5173 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3e70c97d-c567-44f8-8e84-fd644c6ba2ce CLINVAR:12602 biolink:causes MONDO:0009026 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 800ddfcf-9814-4295-bfe0-6a6c38c3a137 CLINVAR:12602 biolink:is_sequence_variant_of HGNC:25430 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 42ed44b4-0cbf-4be9-ab3f-540b5bf7147f CLINVAR:12605 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7f51f6cb-3051-4690-a18f-6ea97152149f CLINVAR:12605 biolink:is_sequence_variant_of HGNC:5173 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8e406e5c-cb8c-4b34-b40e-5dd28c4d9da8 CLINVAR:12606 biolink:causes MONDO:0018997 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2839f6c1-62ff-4cba-8356-82c942169f10 CLINVAR:12606 biolink:is_sequence_variant_of HGNC:25430 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 24c23fb9-6d7b-40a2-9989-79a9e231146c CLINVAR:12871 biolink:causes MONDO:0018997 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0e6c7e76-df2a-4c16-adcc-6ca5364583d9 CLINVAR:12871 biolink:is_sequence_variant_of HGNC:11187 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d584f484-c4f6-4620-9c07-8186e4e6b6a3 CLINVAR:40678 biolink:causes MONDO:0018997 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 11d35807-7441-4f82-850e-4beda04df61e CLINVAR:40678 biolink:is_sequence_variant_of HGNC:11187 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 98b4e631-1406-4225-8c84-be5cee4e7cb7 CLINVAR:40662 biolink:causes MONDO:0018997 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5ce3711a-234d-4dc3-aa59-a4c6a43b620b CLINVAR:40662 biolink:is_sequence_variant_of HGNC:11187 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c49cabb8-1293-4cee-8668-6931b209ff7a CLINVAR:40706 biolink:causes MONDO:0018997 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b20b53af-180c-4288-bcd2-db19c49913db CLINVAR:40706 biolink:is_sequence_variant_of HGNC:11187 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 59889ed0-28f2-49ee-8ef7-2c0492d5551d CLINVAR:40651 biolink:causes MONDO:0018997 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b18fa2fb-1939-4646-bb32-0ea4f5a8762e CLINVAR:40651 biolink:is_sequence_variant_of HGNC:11187 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e47d7c13-88a7-4946-8773-9259b534db9c CLINVAR:13957 biolink:causes MONDO:0018997 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen fea20688-545c-4cb0-9221-87915718c226 CLINVAR:13957 biolink:is_sequence_variant_of HGNC:9829 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 98ace9cd-0130-41ad-9604-f8986aa024b5 CLINVAR:13958 biolink:causes MONDO:0018997 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a0cedf63-c82c-4587-a58e-f093badaaa62 CLINVAR:13958 biolink:is_sequence_variant_of HGNC:9829 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1812d849-2674-48b7-9e71-fc786f7f2143 CLINVAR:13960 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ead22934-ba72-4fab-b4ac-e17583c755ad CLINVAR:13960 biolink:is_sequence_variant_of HGNC:9829 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 34768f1b-2523-4ecc-b356-cbd1f859f273 CLINVAR:21342 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 24dfda93-0bbf-4126-a3ab-a21be057d59d CLINVAR:21342 biolink:is_sequence_variant_of HGNC:9829 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a430deba-61c2-4045-86ce-e34d38f1aa3d CLINVAR:40599 biolink:associated_with_increased_likelihood_of MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c8e41c84-b640-4afa-b37a-df8fb767b369 CLINVAR:40599 biolink:is_sequence_variant_of HGNC:9829 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 07e85594-b0d7-4e10-9335-6577251ef02b CLINVAR:13326 biolink:causes MONDO:0018997 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b98ba506-9aa9-4df4-8c0f-0aaf7913ee0d CLINVAR:13326 biolink:is_sequence_variant_of HGNC:9644 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ef85ad2a-10f7-48cd-b8a1-8b39d41a9ecb CLINVAR:177868 biolink:associated_with_increased_likelihood_of MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a59cc2c9-d497-493c-a293-2d93392261f8 CLINVAR:177868 biolink:is_sequence_variant_of HGNC:6842 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3495b1ce-18f3-4261-ac78-311f8d85b000 CLINVAR:8274 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e2b26edd-60f8-419b-9d7d-f90b2329455a CLINVAR:8274 biolink:is_sequence_variant_of HGNC:6842 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 909a6cb1-db52-4e1a-a5e9-9f4d2ce464b2 CLINVAR:8272 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c2fd1d76-e1e0-4be0-a279-e2dd332b32a5 CLINVAR:8272 biolink:is_sequence_variant_of HGNC:6842 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 36af3856-2c7e-488e-8ae3-93d6ff6c319d CLINVAR:8275 biolink:causes MONDO:0015280 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 176719cd-8763-4686-99f2-03bdcdc0a208 CLINVAR:8275 biolink:is_sequence_variant_of HGNC:6842 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a0d7d4ba-169e-4d38-b8ab-2606cf6970a5 CLINVAR:13350 biolink:associated_with_increased_likelihood_of MONDO:0015280 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9d1358bb-7f69-4734-8c97-1a519b69d546 CLINVAR:13350 biolink:is_sequence_variant_of HGNC:6840 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen adca7b1a-52a7-470c-bb3c-f7f592b50cb2 CLINVAR:40781 biolink:causes MONDO:0015280 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 84bc6d0a-cc1e-4911-925a-5dd266f2b4e9 CLINVAR:40781 biolink:is_sequence_variant_of HGNC:6840 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 827cf6b8-76e0-4675-b614-89155abe18ca CLINVAR:40747 biolink:causes MONDO:0015280 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 782546a1-f403-4a77-9bf9-c76b41632cea CLINVAR:40747 biolink:is_sequence_variant_of HGNC:6840 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1ff81054-5c2e-4361-8da4-facbe4bc9d61 CLINVAR:13351 biolink:causes MONDO:0015280 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 58352109-bf3f-4f6b-8eea-f2c2464d4050 CLINVAR:13351 biolink:is_sequence_variant_of HGNC:6840 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 522c8ec4-8729-4031-b479-ad0f9cbbab87 CLINVAR:13979 biolink:causes MONDO:0015280 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c67db78f-573a-41f0-9661-23c9e62045bd CLINVAR:13979 biolink:is_sequence_variant_of HGNC:1097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f9a7ae6a-52e3-4aa7-9e04-367230f35eef CLINVAR:13965 biolink:causes MONDO:0015280 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 963d707e-5a4b-4ed8-a232-4e0e42160b23 CLINVAR:13965 biolink:is_sequence_variant_of HGNC:1097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1e947e99-2db4-42ba-a99c-024e09b70232 CLINVAR:13974 biolink:causes MONDO:0015280 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3abff251-586b-4e24-bf73-91b894095111 CLINVAR:13974 biolink:is_sequence_variant_of HGNC:1097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 357b9050-c0f1-4c9a-96ba-0e135fed1fd1 CLINVAR:40346 biolink:causes MONDO:0015280 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b8ec206e-dad0-4f31-98f6-768d41bc862b CLINVAR:40346 biolink:is_sequence_variant_of HGNC:1097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8ecce92a-7860-444b-b36e-d271f64ea89f CLINVAR:44588 biolink:causes MONDO:0015280 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9fe8b9e2-7f4a-4c42-ba8b-b2a29782e719 CLINVAR:44588 biolink:is_sequence_variant_of HGNC:6840 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b1d6de55-0bca-4393-a159-7c6e02d26075 CLINVAR:13973 biolink:causes MONDO:0015280 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 14ee156f-d76b-4daf-9dff-e06139a08955 CLINVAR:13973 biolink:is_sequence_variant_of HGNC:1097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 63f14194-7d5b-4d3f-9015-1daa9045fb71 CLINVAR:599655 biolink:associated_with_increased_likelihood_of MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 22cc6dc3-894f-451d-ad0e-09513ed9189b CLINVAR:599655 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 49b89e9b-e562-4c2e-ada6-eca2e55c7bc0 CLINVAR:418841 biolink:genetically_associated_with MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 79959a1c-cb19-4d35-954c-a2477e8b2205 CLINVAR:418841 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen af36cb03-da18-4315-8269-979f50065337 CLINVAR:140871 biolink:genetically_associated_with MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 62c40d03-e47c-49f6-a816-a2e5604a1539 CLINVAR:140871 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 35c146f4-27a0-49bc-b277-007c386a31de CLINVAR:496233 biolink:genetically_associated_with MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e4b0072e-c2e3-43b2-82dd-cf6e19d80525 CLINVAR:496233 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3bd853f5-e483-490b-a852-04021bfebbf8 CLINVAR:599651 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 24750fcc-aca2-4fdb-831a-5f3ff7e6bad4 CLINVAR:599651 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1be8d81b-c675-414f-8864-3c70780cf47c CLINVAR:136055 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8a097d68-7d41-4df1-a993-b86a7c9526bc CLINVAR:136055 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3404a82c-fa17-45fe-b836-9029cc4f3923 CLINVAR:463775 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 44da37b6-cfc8-4db0-9ca6-63e6227f279b CLINVAR:463775 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9ff7cf68-4728-4a5e-8413-bcbc730a6f36 CLINVAR:156496 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e0a1222b-d1ab-46b2-8b57-7822a805e9f6 CLINVAR:156496 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f1a2e0cc-2c3b-4f92-aed6-089f2426fe67 CLINVAR:599653 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6969e8f7-aff8-4f7e-a514-748df5571a58 CLINVAR:599653 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 08a9c082-fae2-4323-8b69-a2e84a286101 CLINVAR:599656 biolink:genetically_associated_with MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d28e6359-879e-4211-b9bd-068b040582a9 CLINVAR:599656 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8f084040-3096-40ed-9d74-d4f585d4ce10 CLINVAR:239914 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 362eaab5-7c53-49a5-98c6-e2975fd411dc CLINVAR:239914 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 295be466-5ee7-4757-ac08-9ae2617ecff0 CLINVAR:599652 biolink:genetically_associated_with MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 836faaf9-7fd0-4315-a646-7f1edeb245cf CLINVAR:599652 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e8a0bdbc-2aac-45ac-9d5f-f3a4cc904f48 CLINVAR:156497 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8ee6c3f4-93ed-4eb5-82e1-4569e9a9c4d8 CLINVAR:156497 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a5c9d781-fae0-46c2-bc91-290c2cb6b6a6 CLINVAR:156499 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8e02e325-1e93-4012-ba8d-a1cfa20b903b CLINVAR:156499 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 15cfd56a-e670-417b-999c-897c081ba5c6 CLINVAR:449341 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7bffcf15-e2b1-4dd1-942f-4cc45e277f63 CLINVAR:449341 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 44de10ae-7f78-42e3-8663-2fc4833ddd5c CLINVAR:599654 biolink:genetically_associated_with MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d21dc0ee-1be8-43bf-bbe9-0f9a539aaa36 CLINVAR:599654 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1e861a09-fb91-458d-a795-9a89a4bb1701 CLINVAR:486824 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 034666ba-5704-4f4e-8db0-cf4e4ac53aa4 CLINVAR:486824 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0c963eff-44dc-4618-8630-8b688355320b CLINVAR:239913 biolink:genetically_associated_with MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 62e308d5-c657-4292-a6da-1440f55a1c7c CLINVAR:239913 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5d3cfac5-fa72-4546-a4f3-7df4e2481eb2 CLINVAR:479504 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c82d549e-c8df-40ff-99dd-7c302228d5b6 CLINVAR:479504 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 84d3148c-79ce-43e2-bd03-62adcdf34caf CLINVAR:479488 biolink:genetically_associated_with MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c9612f0e-9382-421c-8401-39f06ed4946b CLINVAR:479488 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 27b34568-d6c6-4fa5-ada8-c3e25c5a4564 CLINVAR:234554 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b8f7665b-cec0-460c-9c36-bc83ab06a1d2 CLINVAR:234554 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ecd9d581-203c-4f4d-9cc3-1c340ef8c7a2 CLINVAR:239906 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9b197f0a-0d6e-4195-bb58-74fe9f681c6b CLINVAR:239906 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 67836a7d-a63c-49b2-8a4e-982dbb5cd690 CLINVAR:483264 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 33b33b15-9cad-443b-bbc2-094096ce2a91 CLINVAR:483264 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1b871bea-64b1-4f32-bac5-ae1518e6b265 CLINVAR:12241 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3c84e1cc-9b26-4db1-a243-e1284d37b169 CLINVAR:12241 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a1cc8f2a-56a3-47b1-9e02-bcc819bc894d CLINVAR:231647 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4280d4e1-382c-43b2-a978-416a426124b7 CLINVAR:231647 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 531d72f8-1b68-498b-a9da-b70137e2fb69 CLINVAR:187464 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen dc47beff-6f92-4583-8abc-ec71d7fec294 CLINVAR:187464 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c59fb006-7905-4c18-a28e-1285cf593722 CLINVAR:18453 biolink:associated_with_increased_likelihood_of MONDO:0100488 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 21ca56e6-c89c-4ff6-a27b-b6ce52dac837 CLINVAR:18453 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bb32df8f-b188-4659-8ee1-3bf688e892fc CLINVAR:406663 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 642d021b-95e3-4a72-ad85-7b8c579c0269 CLINVAR:406663 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9513046b-b8c1-4b4e-963b-2b6e8d9797e6 CLINVAR:177763 biolink:genetically_associated_with MONDO:0005021 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 99e66832-e693-474c-8ea6-795366fb5a2c CLINVAR:177763 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e39ef738-4e45-4bd6-a9ed-69ef06779cec CLINVAR:7826 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b50d621d-59ce-4511-8617-21fa1dac365f CLINVAR:7826 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 32bfaef7-e1f7-4f7d-8973-9c462010e445 CLINVAR:185713 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2c42fd42-32b3-4ff7-9514-9c0ed791c066 CLINVAR:185713 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 70ba9daa-350e-4c22-894a-4354c0871b51 CLINVAR:7830 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 83bcdabd-b1fe-4676-b1ea-547195f9ba78 CLINVAR:7830 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 625af944-a54a-4ee7-9e43-8e05eba639a7 CLINVAR:7831 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8780198d-5134-4287-99ce-30db73ac269a CLINVAR:7831 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 621700f1-0464-44b9-9913-52a6bce58f35 CLINVAR:7828 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2c1c3986-f881-402a-851a-dd79f88fac2f CLINVAR:7828 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6464347a-ab5f-462e-b83b-13d81d764f74 CLINVAR:7823 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9998bf41-2713-47c3-b0f7-62d6bc35c840 CLINVAR:7823 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2a7e602e-2f77-43b2-8a11-63527d2d9bb5 CLINVAR:39668 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c7597ff0-0ce6-40df-8435-8a205c731cda CLINVAR:39668 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b52f4a0f-efb6-428e-9555-e6699ed3dbb8 CLINVAR:140807 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 08a92589-5a3b-44c6-b0ac-b266c5f55d8b CLINVAR:140807 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a3d7c53c-b72a-4096-91c1-615ae96c818c CLINVAR:92820 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7eda12ea-5525-468f-953b-509d7aa4d04e CLINVAR:92820 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c9b1a211-bdd8-4f60-8cf9-4afb2edf3f75 CLINVAR:39669 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4e7e99b3-47fc-402c-b2b2-2c6c4bfbfda4 CLINVAR:39669 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1b0c5176-728c-451a-9980-10dbe3503f06 CLINVAR:428271 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen dd75c026-48be-4dcc-969b-4d8c65b829ed CLINVAR:428271 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3916c24a-da72-4a5c-a633-487196e53b17 CLINVAR:428274 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ca14765f-4447-438a-88d0-fdfec7bbdead CLINVAR:428274 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8e4f2096-cf5b-4723-94fb-1ee1557acff3 CLINVAR:7841 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5e76083f-05e5-4298-8d47-3d0fd8f77bfd CLINVAR:7841 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1a152c0b-466f-4754-83a3-adca5de24184 CLINVAR:7849 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 089175ef-09a6-4207-a9a9-57b972e510be CLINVAR:7849 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aee95708-3b0e-44b9-aae6-c51d9efbab67 CLINVAR:7839 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b8ae92d2-56fd-4c98-9b72-95ac24016c44 CLINVAR:7839 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 41d5ae48-7d0e-44a7-bd69-b7d5af421fae CLINVAR:7850 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen aa77805e-093a-4122-b8d2-aff0c1832afb CLINVAR:7850 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 92ce92eb-86aa-42e5-88ae-44d6ceedb1ec CLINVAR:7848 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3a9d858c-1865-4ede-9e78-78ac87a2dba4 CLINVAR:7848 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3f4d63a9-8c89-41cc-b336-502b573d944c CLINVAR:552907 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 51452aa1-c508-4ccf-862e-9a8dca6d5cd8 CLINVAR:552907 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a016eef8-6fb7-4016-9c8b-04fee12213e0 CLINVAR:619167 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 18cf168f-0558-4453-b150-befc71ab0b68 CLINVAR:619167 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d41f7089-5145-4424-b61d-4351dc41df45 CLINVAR:102567 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8f5b72c9-1b0e-4712-adb5-72291314fe69 CLINVAR:102567 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bedb7d0c-a865-4b11-b8d9-5da815c686bf CLINVAR:551555 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6654bde4-81fa-4aed-a132-3bf21fca585b CLINVAR:551555 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b26629e6-10d0-4a2f-aa52-e665daf068ed CLINVAR:102526 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 71183ee8-9f4e-4e0c-ba63-adcdbec508f4 CLINVAR:102526 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b79bfc8c-92d3-438d-9066-e3b83ed0bee5 CLINVAR:619161 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen cee936d6-c1a7-4827-a629-06e235e55acc CLINVAR:619161 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3aca4077-2db9-4f71-b2db-6b1534cfc909 CLINVAR:102525 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ed1fa7b1-3670-4d64-88dc-ebd0398f2d64 CLINVAR:102525 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5307a55a-bba4-487e-92f8-708769df92a4 CLINVAR:619153 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1767eee6-afa3-4ec3-8ac8-94c3b8c8d592 CLINVAR:619153 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 95e96bf3-803e-40ff-a72f-f9f318e8a0a0 CLINVAR:102726 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f32988a2-60ec-4a68-a0fa-af6d9637578c CLINVAR:102726 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 38346f75-a698-4b1e-81ea-df62cc03184f CLINVAR:627 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a4dede50-1fc6-4233-9af2-e6d848a7daaa CLINVAR:627 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aa96ae82-8291-4677-a22a-c2f06d779d85 CLINVAR:208180 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f5779630-6369-480d-bac1-6a7db033e8b7 CLINVAR:208180 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 28d96d66-5091-4273-a76b-5f69af784606 CLINVAR:225133 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 63528e2a-9e31-43fa-b165-b82a2d4921d0 CLINVAR:225133 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d6a18a45-fa97-4ccd-86e3-f79aae531ab8 CLINVAR:633 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b3b39165-6b00-4d8d-83f5-c143216f5eef CLINVAR:633 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c0fc79ac-a5aa-4fd1-b985-92111d34aa21 CLINVAR:102905 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f3b34be1-3f43-46a3-98d4-67345aa06825 CLINVAR:102905 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 487fa5c8-8356-4113-a4f2-8d6a14a2a97c CLINVAR:619151 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 873405b1-812a-4352-8435-ae32376bc430 CLINVAR:619151 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 47ddb077-19c8-4bf1-b460-0d3b55f4fa14 CLINVAR:619162 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 72fd0b18-985f-4d28-a788-c990cebffab1 CLINVAR:619162 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 79d01a90-78bd-4a4d-829e-e3ddc3e1b34f CLINVAR:619155 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 71fc79de-9eaa-42f5-b557-f231e304da13 CLINVAR:619155 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c92302b9-f77f-44f5-9f20-a1a52ed7feb8 CLINVAR:619157 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 175380ac-d33b-400a-892e-ceb90b5d5beb CLINVAR:619157 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7c091e60-2d4c-44c4-b908-ccc7682dfa89 CLINVAR:102882 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a41770b2-7252-4589-9de2-f8d5dca50bc9 CLINVAR:102882 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 64ac09c1-514d-4262-addd-2ae1b2ca66ac CLINVAR:102881 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d63b263a-ec5c-462d-9a2c-4b37e11a57f0 CLINVAR:102881 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 794dc6d2-fcfb-4397-954b-26ca20440483 CLINVAR:619164 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 97b2618c-6519-43b3-a706-99b9063b365c CLINVAR:619164 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 11e0a2e9-15e8-4317-9f02-9cd4ac835d75 CLINVAR:102880 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 46167771-2399-4112-897a-c81d48fe9094 CLINVAR:102880 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 955d00b0-ba11-4ccb-ba1d-df87a6472496 CLINVAR:102877 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 64cd0143-a6d2-455e-ac9d-54adc06478ec CLINVAR:102877 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 296f9b9a-298f-4f9f-9065-b9b1fe3db7be CLINVAR:619158 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a08ab731-6a36-4e25-89ba-6ed56beeead2 CLINVAR:619158 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0aaa072b-7507-48ae-ba37-a850d3480581 CLINVAR:619149 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen eeb118d0-24d3-4ac3-8de0-cc810a4bf2b5 CLINVAR:619149 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0b0d1065-56e9-47f0-873b-59492861a1d3 CLINVAR:619154 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b7c35929-a634-49f8-8f46-b2ae411f1367 CLINVAR:619154 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d1227a98-5b54-4062-8c5d-8ebadfcc5693 CLINVAR:120279 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0e428e38-1a3f-4fa3-acd4-bd6b59443e44 CLINVAR:120279 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d3f1ac90-e1fa-42b5-843f-6b2d74541f33 CLINVAR:102694 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9618beb2-1e16-4d10-bec6-cf382a240737 CLINVAR:102694 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 25d57f40-991f-4f2a-987b-ac53b918eec9 CLINVAR:102667 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e795e0d5-09fc-439a-b3d7-e668739e8e03 CLINVAR:102667 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 42f8772d-ffdc-4ae6-9768-b34b1a6148f6 CLINVAR:102658 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 650c3b8a-7df2-4902-899f-12ac5fbfe63d CLINVAR:102658 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 60d06e6c-5f7c-40c9-bbd0-60da22711a1b CLINVAR:102620 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 068adb21-0164-4574-b72e-de6f04f03974 CLINVAR:102620 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6e0b7885-18d5-4925-a3a2-ed1ed702f549 CLINVAR:102619 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e95d7926-d325-43e0-bdac-87ae81529ef1 CLINVAR:102619 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5369ad23-f1ce-49b0-8236-f2a8c841c895 CLINVAR:102616 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8f3bcfd6-c8f4-416d-b9c9-c17177bc1f3b CLINVAR:102616 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d1fda6f2-b547-4131-9228-aaf18a7d40b2 CLINVAR:120266 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d7cca4f5-89a9-4914-b861-4d431e1a7e16 CLINVAR:120266 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e6974025-f510-485c-9a96-10832361b6e1 CLINVAR:619156 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 852900f3-51a8-4c6b-a639-586b652daa7a CLINVAR:619156 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 62673de0-74b8-42d2-896f-6ee99744a69b CLINVAR:619148 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d6af92f6-6a02-41c9-bdcf-fa42c7035111 CLINVAR:619148 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1b62b804-a876-49ac-9c7a-4895b1cbee11 CLINVAR:619152 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2693f02e-40e7-4a37-b953-ac9dab103043 CLINVAR:619152 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eac5df43-3a3b-43e0-81e0-8db8a7c4cd62 CLINVAR:102850 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ca10d392-621f-49fc-ad5f-4f33e3f47802 CLINVAR:102850 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 50935053-f782-4e81-af57-9902b74e9bcc CLINVAR:102849 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2e34cb63-46cb-4bdf-a7dd-91deece2225f CLINVAR:102849 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5683cffb-283f-46a0-a38b-dad294bedb4b CLINVAR:102623 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 91adc176-26fa-4da6-97e3-a546b8f8e2f0 CLINVAR:102623 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5e117f1b-8046-4910-8a61-cab459a3682e CLINVAR:102817 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 92d39589-1d9f-4665-9741-2e5dc80d2fd5 CLINVAR:102817 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ddd0ae9b-4ace-4ef9-ba07-f0ee78bbffe1 CLINVAR:102816 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ff07953b-50d0-404a-a090-8ac8afb4086b CLINVAR:102816 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 988e966a-6504-4970-b41e-cfc8672bc2d3 CLINVAR:102815 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b176b735-00ae-472c-b10b-dea90754bea4 CLINVAR:102815 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d2ace9e8-1a2f-4eac-bc57-731875edbcad CLINVAR:619163 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6432fb6f-f6d5-422d-943d-914eb04c6f63 CLINVAR:619163 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ac217177-6ad8-41b8-a932-7d5c8f89dbbb CLINVAR:619160 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4607cd44-f455-420f-bec5-b8b32f2cf3e5 CLINVAR:619160 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0c3a3084-1607-40c1-93fe-00c13c942818 CLINVAR:619166 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 11412c85-2e9c-4b5e-abbb-ebdeadbf9436 CLINVAR:619166 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ac4b0ebf-0f61-4997-9846-f25c09d4be41 CLINVAR:102772 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b960985b-0b07-44ec-8eee-8055365a1a9b CLINVAR:102772 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d112919a-b386-44bb-a2c9-72236e2add0f CLINVAR:619165 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5d7290d3-bd34-4056-aaae-b9ea76861ef0 CLINVAR:619165 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9dad0354-29bf-4a1f-9582-a439da453136 CLINVAR:556296 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7ec4a3fd-f489-4b0b-b94f-ad2ffebdc8be CLINVAR:556296 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c2486a52-9cf7-4e34-a9bb-672cb8619822 CLINVAR:102841 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 03221280-7924-40e1-ac3b-21d9dcc63f29 CLINVAR:102841 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 11d1ae5e-d8bd-4494-9dd4-a587bbdb9feb CLINVAR:102840 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 08891096-ad4e-4166-af25-201ecf172da2 CLINVAR:102840 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3e1bb856-d87a-424f-82f1-1c2e6a30bb15 CLINVAR:102839 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3a13d360-4971-4d5c-a769-7867413ea8ff CLINVAR:102839 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2c2b714e-2b70-493b-a100-f88e9acc8184 CLINVAR:370701 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 716e2dd2-5d61-4b59-a932-14914a82da2a CLINVAR:370701 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 93b847d1-931f-407f-a451-549b8f7cfc8a CLINVAR:120258 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7b50e04b-5a0a-4b27-a41a-7c489f89c564 CLINVAR:120258 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2420cf74-d646-4211-b45a-43e3093e18d1 CLINVAR:102767 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen af9c5a09-e197-4609-8380-6faf7cc9cf77 CLINVAR:102767 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9fa0b07a-1df8-4fb6-9d04-f897af299a1d CLINVAR:102604 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 165bdd9b-9214-464f-b454-0bfda982e570 CLINVAR:102604 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e8654896-11a0-49e5-8b70-15833b70924c CLINVAR:102588 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7cf74f33-aacd-4f39-ac67-f2415cbc0b3d CLINVAR:102588 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f1425150-6c8b-437f-bded-c7d45b93a79d CLINVAR:102857 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 772d38c8-7e82-44c9-92f3-a94c9e338edc CLINVAR:102857 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 61dd40a5-22e6-407f-b8a9-50ec82aad733 CLINVAR:102856 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 83a9f008-7168-477f-97bb-c7212b8723e4 CLINVAR:102856 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cebc41ce-fd21-42ec-94b3-2fb1e73017b2 CLINVAR:102854 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3ecf4450-4faa-43b3-8f51-9eb8cb4757f8 CLINVAR:102854 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 91b8a7b6-e83a-4b1b-a5d0-88f300eb18ff CLINVAR:102853 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen fe56854d-aa5d-4868-8251-8b542b8d9ee9 CLINVAR:102853 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 917ad4dc-cb28-42a5-840a-55cf84be559c CLINVAR:120286 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 68b86cbd-fc49-4901-89e3-c1eb507015fa CLINVAR:120286 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d1299798-95a7-487e-af73-495e7b701bbe CLINVAR:619150 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 13d6d038-72ca-4e0a-996c-09a6f1f6e205 CLINVAR:619150 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5b881260-ab1f-44ad-8a06-ccbebe88a655 CLINVAR:102833 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3828f92a-c5da-45f3-b6b1-9c713b9c6fc7 CLINVAR:102833 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5f194474-372d-47f1-9516-3cdb7c6c0091 CLINVAR:120285 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4da7367b-f05e-41e6-ad02-b41d0cf657bd CLINVAR:120285 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d1d4db4b-e015-4e19-88d9-3fed60cf2f04 CLINVAR:619159 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 62d8b419-c741-4deb-b3f2-c4175e6f60a4 CLINVAR:619159 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 774bd40a-310f-4c77-a673-3a5329a93190 CLINVAR:587 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 30e57bf8-6252-4122-aa93-2be57c410f5c CLINVAR:587 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3fb6dcc3-181e-48db-ba0e-d71411a7b029 CLINVAR:102842 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen af1a11ec-9019-4136-b01e-1734d4c71d50 CLINVAR:102842 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9abe0a5e-3f69-45c2-a0ca-8b5da2254927 CLINVAR:102823 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8186d5ed-636a-4c91-8832-de2801c0c53f CLINVAR:102823 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a57bc689-3a45-424f-8ac0-d120275e8bf7 CLINVAR:589 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5407a9fb-0708-439f-8301-91fec8eb1eee CLINVAR:589 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c48b7ac9-99ba-435f-95ea-413de6d1ab03 CLINVAR:92749 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5fd41907-6db1-4e37-8bb8-be86427ac212 CLINVAR:92749 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 007f4a6a-4410-4058-be49-ebfc9f5c52a0 CLINVAR:46014 biolink:genetically_associated_with MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a65c41b2-7f33-4193-bf5e-1ef6f358748a CLINVAR:46014 biolink:is_sequence_variant_of HGNC:13733 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7cf1b6e9-6c86-4aa0-87b3-7abf933c8eff CLINVAR:6611 biolink:causes MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f7c6a980-a8a4-475c-8d66-61d70353bfaa CLINVAR:6611 biolink:is_sequence_variant_of HGNC:2180 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e8ab4f39-53ce-48f0-a3a7-ba9ebf048ee0 CLINVAR:447450 biolink:genetically_associated_with MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 44979aae-a8c3-41bd-b759-542522803532 CLINVAR:447450 biolink:is_sequence_variant_of HGNC:4284 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b588df5a-5e83-4edb-9708-ba19f3153608 CLINVAR:555720 biolink:genetically_associated_with MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f4717355-cd94-456a-bdf9-e5fbe299db65 CLINVAR:555720 biolink:is_sequence_variant_of HGNC:4284 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fa687369-2798-4e43-aa2f-da5d66794834 CLINVAR:17002 biolink:causes MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f0a4f029-cd29-4d5d-96b1-84d11e72d9fc CLINVAR:17002 biolink:is_sequence_variant_of HGNC:4284 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ce50c511-a68a-49c0-a302-b38e38e5efe8 CLINVAR:4840 biolink:causes MONDO:0010134 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9a8a6873-b5ba-4832-a2c5-c39e737c0b17 CLINVAR:4840 biolink:is_sequence_variant_of HGNC:8818 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9f3c76f3-5e5d-436f-9271-e50afd846d9a CLINVAR:17010 biolink:causes MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 45d329da-dd68-4a8a-b9c5-d0f0443b9a82 CLINVAR:17010 biolink:is_sequence_variant_of HGNC:4284 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7e274f80-d955-46ef-b196-b72a328cd54f CLINVAR:375406 biolink:associated_with_increased_likelihood_of MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8d05c97b-8894-4815-9233-bf537aad98fa CLINVAR:375406 biolink:is_sequence_variant_of HGNC:4284 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cc3ed5a7-c846-4fb9-be7a-bde07db024fb CLINVAR:43555 biolink:causes MONDO:0010134 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b52335cf-1b49-49e8-bacc-19742f108acf CLINVAR:43555 biolink:is_sequence_variant_of HGNC:8818 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 18e2b8f7-99ca-45f1-a4f4-d52f2de7ba3c CLINVAR:48535 biolink:causes MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2b1035ac-0df3-4253-a038-76c02542d159 CLINVAR:48535 biolink:is_sequence_variant_of HGNC:12601 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9b4390f6-6312-4287-b3fa-9f105edd8892 CLINVAR:6241 biolink:causes MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b6149351-5a28-48f3-9631-cb643cd8222a CLINVAR:6241 biolink:is_sequence_variant_of HGNC:6298 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 38f45b06-14b3-474e-9a49-5f5ce6b175bb CLINVAR:43498 biolink:causes MONDO:0010134 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4c7bb151-3bc1-46d8-9038-b26033baaa7a CLINVAR:43498 biolink:is_sequence_variant_of HGNC:8818 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 01b2610d-8cc2-47b8-ac56-949d95f18693 CLINVAR:4835 biolink:causes MONDO:0010134 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8c68dfd8-5d79-4bc1-9ada-884e6ce53bdc CLINVAR:4835 biolink:is_sequence_variant_of HGNC:8818 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d93e39dd-8d04-4b8a-a34c-6c1cac6a27da CLINVAR:166504 biolink:causes MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1e0bedaa-ff20-4fc4-8d40-189070e14f2c CLINVAR:166504 biolink:is_sequence_variant_of HGNC:12601 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d81fef8c-02db-4e6f-9eaf-9e789ec6b50a CLINVAR:2353 biolink:causes MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen cb585310-aa84-4546-9ea1-08cb152483f6 CLINVAR:2353 biolink:is_sequence_variant_of HGNC:12601 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d8d642e7-7bf6-4bc6-9345-eba6d93a42e9 CLINVAR:48604 biolink:causes MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6303ba9f-b493-4e75-b8ba-d3e56e04421b CLINVAR:48604 biolink:is_sequence_variant_of HGNC:12601 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9d38eb89-60ea-4b39-84f5-fcab0007e2a7 CLINVAR:43565 biolink:causes MONDO:0010134 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e6fa11d2-0cab-4222-b004-d14b58b990ed CLINVAR:43565 biolink:is_sequence_variant_of HGNC:8818 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6edece2e-3c4c-4e1e-b41a-a7562fdc6dba CLINVAR:48347 biolink:causes MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen cf22f7e0-24ec-4d22-9f2e-6ab24a1be2d8 CLINVAR:48347 biolink:is_sequence_variant_of HGNC:12601 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9c604a0a-7ce8-4e8c-bfd3-589d02f357c0 CLINVAR:197510 biolink:causes MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8e1a41fe-4f94-4cc8-b80b-512b67892c12 CLINVAR:197510 biolink:is_sequence_variant_of HGNC:12601 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 06a9cca3-424b-4ee8-86ce-494511960bce CLINVAR:189148 biolink:causes MONDO:0010134 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b8fad40d-cf37-4904-86ca-179f5c6e0d13 CLINVAR:189148 biolink:is_sequence_variant_of HGNC:8818 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4354917e-021e-4bdf-ab85-4edf5b94b9de CLINVAR:449088 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b4009c11-1bcf-4b23-abde-4764cfab68a7 CLINVAR:449088 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7da9985a-9630-4419-9209-9a9bdb2f403e CLINVAR:102661 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 93b3ea40-3e7a-4977-9591-56bb7ad22039 CLINVAR:102661 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8b8b396e-0163-4012-b60c-e7545e73405b CLINVAR:102858 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 02b72d6a-86d3-4fb7-a842-78cfe72e2745 CLINVAR:102858 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a0aa844d-76ea-4b30-bf12-4b4949735f86 CAID:CA16020876 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6d6d4c53-207c-4d5e-89bc-a67d1d76b696 CAID:CA16020876 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 36314c38-9f1d-4d11-9328-85ebeb804f36 CLINVAR:102889 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen fa1dd7cd-7054-498b-85bc-a7b15b76c343 CLINVAR:102889 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 99f16a6e-cbf1-4524-9d58-e9017701cb21 CLINVAR:102584 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 65cd5e25-f9e2-44ec-b80c-a04f90e77722 CLINVAR:102584 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c658261b-fc97-4163-9e7f-8bc46ae034f3 CLINVAR:120274 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 44f3dded-4324-4e7d-a4d6-1737529d88ee CLINVAR:120274 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 64608f95-753c-458f-825f-94d28b304f90 CLINVAR:102689 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2d534942-30ac-4564-8cf1-f2b91a5e87d9 CLINVAR:102689 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bb9b54a3-e764-402f-9bd1-7cddda8d5ea3 CAID:CA16020719 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 87f48c9d-57d0-421f-b5b6-c6e7ed7a3cad CAID:CA16020719 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d985056b-9e77-4c16-aee1-1eea9e77dead CLINVAR:557124 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f0104dbc-fd3c-4e2c-9929-0620b687822b CLINVAR:557124 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 34341312-a12a-473a-8c78-0a3924216ca4 CLINVAR:102744 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0b79c98c-3198-401d-a925-7a8026346d8e CLINVAR:102744 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 90fde49c-7f2f-4a29-8bdb-1b8766b919aa CLINVAR:102581 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f75d9a9b-2937-4a17-92bb-3250ad12a153 CLINVAR:102581 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 85ab7260-b92f-4c9f-ae09-e4a5c5ab1001 CLINVAR:102660 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3ec52f32-64bd-40ea-a9bf-e2700f21d053 CLINVAR:102660 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 32b984a4-14a1-41e8-bf57-8d8d3f18a8e8 CLINVAR:102686 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 840a8ed1-8ba2-4a63-91dc-ef86524932d1 CLINVAR:102686 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1a0d0cd6-919c-49f1-954d-bcea0d54153e CLINVAR:102700 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen dd42a4c1-db87-468b-a24b-5eb8b694c4bb CLINVAR:102700 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0af60b73-6c33-4e63-8dd9-30c5b67dd6c2 CLINVAR:102701 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 78869513-0e58-4b21-bfd7-a6e138e87661 CLINVAR:102701 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 37628f25-3452-4225-828d-71415a846243 CAID:CA16020800 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 10f21ff9-0dfb-4b64-a88c-779a622274b3 CAID:CA16020800 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c8cd1ab9-2627-4d27-8ced-62fc9792ac13 CLINVAR:102702 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f27ec8ee-1240-4b19-ac7d-da15f5b79940 CLINVAR:102702 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c3bc4eb1-a12b-49a5-8dcf-8e79dfb26737 CLINVAR:102721 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 990046e9-b717-4026-bd93-4733a08f0ac6 CLINVAR:102721 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9abf2106-7b6c-4a57-aca1-33dc388a1013 CLINVAR:555366 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 65a123af-1c4f-40a2-a9b7-a1a7cae66253 CLINVAR:555366 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f52a66cb-bf55-4d81-8a61-6fe73e47548b CLINVAR:608 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6c8aa683-1106-4f9d-937f-ed44f0d5bc93 CLINVAR:608 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 974bca9a-7333-4681-8e7b-73f0bb2ca19c CAID:CA16020761 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen cacc7e0b-106e-4eeb-9aa7-d6b8684501c2 CAID:CA16020761 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aec09063-4ace-4288-9ba6-221a24b18292 CLINVAR:102873 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c75f625d-ffa4-4d56-986a-3d00ce1b90bc CLINVAR:102873 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 41aecbc6-428e-4038-b465-617b3d04b0e8 CLINVAR:102869 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ea9519fa-f507-46c0-b0c5-68a66a1197e6 CLINVAR:102869 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d86ba10a-9f22-448f-9a6e-92bf607076ec CLINVAR:102670 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e6cf0048-a628-41b3-b0ea-c81b61c0cd6c CLINVAR:102670 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f521bf68-6e4d-45ef-9275-a3f6a4530967 CLINVAR:102735 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 15cc5727-3121-4694-b7a0-dfdbe9e434ee CLINVAR:102735 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bab597f3-7634-41aa-b5a9-76546bd4df05 CLINVAR:120280 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5b82d071-de11-4f59-8870-6cbc51a006a6 CLINVAR:120280 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6b5b7d34-9c98-46d1-ad8e-e609a530f0f1 CLINVAR:133314 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 05673bfa-86ed-4d35-a765-94bfc5a08208 CLINVAR:133314 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2f493526-d6b4-48ac-9918-be87914b8741 CLINVAR:597 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b7603e29-a98c-4a77-9d1a-5788d5ec5a96 CLINVAR:597 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 957a5336-5262-4d92-9ba0-bd6610fe821c CLINVAR:120265 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1daa4f2a-d052-4d6f-9c6e-da50d2063f12 CLINVAR:120265 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 33dd8fbc-5e92-4cb0-bc95-e65dbf476548 CLINVAR:102605 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f778baf4-af10-49a3-933a-d53727551c08 CLINVAR:102605 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1c84c79d-7996-4022-80dc-ffe5d0e7fc3f CLINVAR:120270 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5abc8b5c-796e-4f17-96e9-7a61b3743fdb CLINVAR:120270 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 667cdc99-f85b-4b41-b860-7e05d9689c8d CLINVAR:120277 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3800c439-2b4d-4125-846f-336762c5e6df CLINVAR:120277 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen af53099b-de16-4495-95d5-d5fa2fe1a36b CAID:CA16020871 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d80d670f-1247-447f-b577-6d234ed0d7db CAID:CA16020871 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f2c6adbd-870a-4964-b693-35a5155b214f CLINVAR:208182 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3d3faf9b-b05e-4c04-a977-4ae8af60cbdd CLINVAR:208182 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 78f6302a-6ca1-4429-a788-e942dd18c54d CLINVAR:40447 biolink:genetically_associated_with MONDO:0009026 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d9e6cd32-ee01-4215-852b-878592311aca CLINVAR:40447 biolink:is_sequence_variant_of HGNC:5173 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 11020f3d-b735-407d-a185-d3561ecd057f CLINVAR:40347 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 05b21878-3c5c-4293-94e3-62b31c393402 CLINVAR:40347 biolink:is_sequence_variant_of HGNC:1097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 97180e47-0417-463c-8899-2b07f2fa1bc4 CLINVAR:40348 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 359b50bc-1451-49cf-9313-702c9c142d43 CLINVAR:40348 biolink:is_sequence_variant_of HGNC:1097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5a13bf57-a03d-412d-8e69-79ecade74ba8 CAID:CA281951 biolink:associated_with_increased_likelihood_of MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5b23fda9-0ba7-4f51-bdaf-c45313853be1 CAID:CA281951 biolink:is_sequence_variant_of HGNC:1097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f288c5dd-adac-4899-9296-1719463dcef9 CLINVAR:180784 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b36b0ae2-69c0-47a4-9ec9-ab2ac50cf890 CLINVAR:180784 biolink:is_sequence_variant_of HGNC:1097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cd8d79fa-e64c-47b8-a992-aaa4eee3e883 CLINVAR:55793 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8052c8d3-11e3-4d02-bf1d-f22a81e87b00 CLINVAR:55793 biolink:is_sequence_variant_of HGNC:1097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f4dc1edb-e87f-4959-bd38-243b7616fc85 CLINVAR:44830 biolink:associated_with_increased_likelihood_of MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 57c2f35d-85f6-49d1-85d6-81b65e3b3861 CLINVAR:44830 biolink:is_sequence_variant_of HGNC:1097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3400ae06-c5d6-4ab8-bf02-bf1a61c3751f CLINVAR:477669 biolink:associated_with_increased_likelihood_of MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8c2d8c4c-9b32-4d37-9b5b-08abd2c20b66 CLINVAR:477669 biolink:is_sequence_variant_of HGNC:9644 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8999b54b-39cc-4266-b5f7-f894d2355059 CLINVAR:40485 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5c4642e8-0bf3-4eda-bbf7-c2ee9a00cf04 CLINVAR:40485 biolink:is_sequence_variant_of HGNC:9644 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 834e7720-0025-437a-994e-ad74e83ee484 CLINVAR:543999 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9df663a5-7db9-4fbb-9d72-55d389de210b CLINVAR:543999 biolink:is_sequence_variant_of HGNC:6842 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ed46fd14-5823-42c9-8e5b-ac764e5824b8 CLINVAR:40818 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c29c2b4a-08f4-4dae-b3bf-48722f4e5b75 CLINVAR:40818 biolink:is_sequence_variant_of HGNC:6842 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bbeb6ab4-b826-4345-ac0b-cc5e6429ab15 CLINVAR:40562 biolink:causes MONDO:0018997 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0723c00b-53a0-4021-a6bd-84b9d7dd8f06 CLINVAR:40562 biolink:is_sequence_variant_of HGNC:9644 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7f8ffcb5-c622-4f40-af92-0b12821ac8bb CLINVAR:40513 biolink:causes MONDO:0018997 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ae076e2f-2354-41d4-bad0-118130bd85f7 CLINVAR:40513 biolink:is_sequence_variant_of HGNC:9644 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e4421452-97d1-41cf-8999-e131e974b305 CLINVAR:17000 biolink:causes MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1b5dedda-2e73-45cd-b69e-bfbbff5f492e CLINVAR:17000 biolink:is_sequence_variant_of HGNC:4284 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 294d57e5-eac4-4108-84fd-8103cf85ae1c CLINVAR:203873 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 896b09e3-2efa-4759-bcab-6aab149bab3e CLINVAR:203873 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aadfeca2-d4b8-4647-9ea7-99664aca987f CLINVAR:585206 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 18cf1ef3-844b-4d9a-8194-34d6083a050e CLINVAR:585206 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 61773de2-b684-4300-a9c8-27bdf71fee48 CLINVAR:102626 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6152add3-7965-48d3-9634-5f8947fb5e45 CLINVAR:102626 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3f7c43b9-cef2-4d1d-a4a3-cefdadb2fbc3 CLINVAR:102647 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a9073174-39d3-458c-a907-1af503589831 CLINVAR:102647 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 027f878c-2b8b-49a3-abe0-4736c98b6e7c CAID:CA16020886 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f58f0e26-8b99-455c-9288-89dd51db56ac CAID:CA16020886 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a81b5eab-7e6e-4c30-89eb-7eb0973f7921 CLINVAR:92750 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 035253f7-be79-4ff7-b730-1b03f37db436 CLINVAR:92750 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e1be0f23-5cc3-446c-b0bb-e4b0d43a7085 CLINVAR:102885 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen bbfa1534-9cd5-43bc-b066-92c3e1390212 CLINVAR:102885 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 01239f00-027b-4a93-ab05-22190c89fca6 CLINVAR:120291 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e0a9e543-28e5-457f-92e8-96befb19373d CLINVAR:120291 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f95cf3c5-6375-441f-a69f-742e4bdc12d5 CAID:CA16020885 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8626fd62-d1d9-4fc8-8994-d8d0f0eca232 CAID:CA16020885 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen de46d9ad-f835-46eb-b4ba-1afdafaa79c6 CLINVAR:120297 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 66eaeeb6-7184-4e02-84d1-6a70f9a3f4bf CLINVAR:120297 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2789a9e3-b741-4ff7-af56-6e2c59288474 CLINVAR:120288 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 52924af3-4233-4675-a95c-28314afbfa31 CLINVAR:120288 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5419c614-1c3f-406e-a04b-39560ca8853a CLINVAR:637 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 40dec3c4-570e-4679-af9e-d5a39a5ffe6e CLINVAR:637 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 22467df3-7f4b-41c8-b070-6ba5bc2e86d5 CLINVAR:102884 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen acf09440-507c-44a1-aec4-385a2b66affb CLINVAR:102884 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0fd891cf-fd29-4f8c-8442-f51453d3995e CAID:CA16020846 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 466c3782-3644-424f-89ed-94fffec91005 CAID:CA16020846 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 68d6b234-867c-40ba-8686-7d6b792f3fb1 CLINVAR:102886 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9fa7ea98-1d5d-4647-bd8f-541cff6ffa06 CLINVAR:102886 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 74008f91-1511-481c-8d80-94e383de8ba0 CAID:CA16020889 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0a438ef3-3d2f-4644-ac46-f5c898d11030 CAID:CA16020889 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2eca71f1-0801-4969-ae08-703d059a16b2 CAID:CA346365197 biolink:associated_with_increased_likelihood_of MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 179880a7-052a-4b42-941c-352d58597899 CAID:CA346365197 biolink:is_sequence_variant_of HGNC:11187 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6f8f6972-be7b-4241-9182-df0530155f7e CAID:CA891862608 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b66e9b3c-ccb7-4197-9093-a26d4ae08513 CAID:CA891862608 biolink:is_sequence_variant_of HGNC:11187 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 678a21ad-ea11-4833-b016-801bbb7d4993 CLINVAR:45373 biolink:associated_with_increased_likelihood_of MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 85302003-bb5c-4932-94ae-9e6f648a487e CLINVAR:45373 biolink:is_sequence_variant_of HGNC:11187 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 74d25d51-d3cf-474f-b83d-4877a95a9f27 CLINVAR:8273 biolink:causes MONDO:0015280 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen cf579008-de56-4262-b345-1218acc5968f CLINVAR:8273 biolink:is_sequence_variant_of HGNC:6842 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e72cf57b-f96e-4052-ad8a-8eb96b72a9bc CLINVAR:13331 biolink:causes MONDO:0007893 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 99b8a7be-bd58-4dbf-8d9b-755dd4e670c7 CLINVAR:13331 biolink:is_sequence_variant_of HGNC:9644 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 549d19ef-7502-4b3c-b852-aa7e5b7b1533 CLINVAR:13333 biolink:causes MONDO:0018997 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen fe73bc62-35b5-4676-8f29-fdbcec9046eb CLINVAR:13333 biolink:is_sequence_variant_of HGNC:9644 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cc992461-ba87-4aa4-8bb5-87f8a5030304 CLINVAR:158604 biolink:associated_with_increased_likelihood_of MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6d5f85b6-3bf6-40a4-bb3a-93a81e1daab5 CLINVAR:158604 biolink:is_sequence_variant_of HGNC:4284 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c135b99a-9f72-483f-8196-e80e55a9e7ae CLINVAR:162956 biolink:genetically_associated_with MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen abea0887-b852-45f1-b9c1-5902e74d5c91 CLINVAR:162956 biolink:is_sequence_variant_of HGNC:13733 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4b5d4e91-4a90-46e0-952f-ae1979b58fc7 CLINVAR:177732 biolink:genetically_associated_with MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9d4c2a51-29fe-456a-9368-8fc670b8cd1b CLINVAR:177732 biolink:is_sequence_variant_of HGNC:7606 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2e58820f-2eb7-4f62-b52a-0929c714bf49 CLINVAR:44760 biolink:genetically_associated_with MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4e35cfae-8e5f-47df-8e93-d822321420a0 CLINVAR:44760 biolink:is_sequence_variant_of HGNC:4284 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e5114fdb-41c4-406a-a53a-f838ff411fcb CLINVAR:4838 biolink:genetically_associated_with MONDO:0010134 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f2e700e0-c646-43e8-8472-d86accfc2d8d CLINVAR:4838 biolink:is_sequence_variant_of HGNC:8818 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e44f71e6-52ec-4595-bfca-ec2e201f73cf CLINVAR:17023 biolink:causes MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 87b1f325-44da-48b3-8cb9-307fc04204d0 CLINVAR:17023 biolink:is_sequence_variant_of HGNC:4284 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 17aeea83-be68-47af-8865-3475d56bf86d CLINVAR:120260 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f1a05892-5468-46ed-af4d-ad443a1dcadd CLINVAR:120260 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen defd7ef8-d775-4409-bc75-4c4bc8596c88 CLINVAR:7817 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 17cac111-8998-465e-8975-821911fbaf58 CLINVAR:7817 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f690c0ed-56c0-4181-8995-f73412df1eff CLINVAR:223142 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen df55c1e2-5689-4b24-99ee-53da8df8ed5e CLINVAR:223142 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 10a76c3e-c791-470a-b6bd-7bbe94bf869b CLINVAR:375958 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3058c66b-8db0-49ae-a7f7-1c4113bf9eb3 CLINVAR:375958 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8d4b301a-5517-4000-babf-ddc9f7d731fa CLINVAR:375959 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 31ab8422-50b3-40eb-a949-43209e464bd0 CLINVAR:375959 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1d0719cc-f206-4eaf-97af-bf4337f29378 CLINVAR:189403 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 04f79994-179e-47bc-a5f8-f9d76d59f787 CLINVAR:189403 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4d608084-238b-4af0-9d41-54f9a39d2604 CLINVAR:187827 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 71405e8e-e0de-406a-9968-d5e889f7ff0c CLINVAR:187827 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aae81ef4-5fdf-479e-a1fa-6b1064b82d0b CLINVAR:142212 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 77985533-b875-4235-a0fb-ed8ba1c91acc CLINVAR:142212 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 848658fe-3ea6-4a41-804f-0769fb2999aa CLINVAR:237639 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 094fc831-2178-47e8-8ccd-ecb427f2653c CLINVAR:237639 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fa68a179-2140-42ed-a443-2f1ee7428ebd CLINVAR:184466 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 63e9951e-a3c5-439c-8528-4d641934fdbd CLINVAR:184466 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 07988302-de66-4f1d-847a-ba3b6740fdf3 CLINVAR:427623 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1a8f4f51-c14d-4df1-83f0-f0f238f364af CLINVAR:427623 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 47645f06-24d2-4ff9-99d3-466f19f7b6e0 CLINVAR:372481 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6e611224-a1d4-4efe-a938-712910b69748 CLINVAR:372481 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e35ad152-1f2a-4a3c-b73e-b1cdcb91dd14 CLINVAR:372482 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ac21a270-8632-446d-87c6-a1e9026079cd CLINVAR:372482 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eddc9da9-0091-42a4-8736-6b14499cd5f8 CLINVAR:184844 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d98ba6d6-374f-44a8-9a28-e1b9a784d403 CLINVAR:184844 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f1e1a0f7-3258-4818-b9a5-8e583938e341 CLINVAR:376510 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 30c2e6b7-748c-4f06-b9b5-8ebe9c78e0e0 CLINVAR:376510 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 04008846-afec-4077-abc9-bc86daac2e97 CLINVAR:139567 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 02798254-fa31-4f21-9ada-546f323131de CLINVAR:139567 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f7bc515b-de6e-42d7-83a7-4c7e81a4b3f2 CLINVAR:237643 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 98c60523-b2d2-4c43-ad73-0f4a33f7624b CLINVAR:237643 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c623216f-2be1-4595-a94c-806ae3977d8b CLINVAR:7843 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen cc66ee0e-13ca-40df-881b-a29397b35112 CLINVAR:7843 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 68cf2cc7-e7bf-4844-a9c6-910f3e240357 CLINVAR:428216 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3178d921-ede3-46c3-a98c-a1b77af635fe CLINVAR:428216 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 26371aab-0a74-4a94-ab31-15a0e3075327 CLINVAR:7845 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 723f44b7-9ea5-48a5-8d9e-0e74938b43d4 CLINVAR:7845 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0ff9854b-fd12-4eb3-9526-85eb3ccd3915 CLINVAR:428206 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 37b2b7dc-5d50-42ac-85d9-e21791548a20 CLINVAR:428206 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0ef13282-60ad-4e8a-aa23-33a0906265c2 CLINVAR:7825 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c0ed0e0c-9955-4cfc-91c0-51e7e71a3e76 CLINVAR:7825 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7f07bec0-30db-4f44-ba64-a838a0b7103a CLINVAR:7821 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1a3d044d-bec3-43f2-8aec-e982e9ee0c0d CLINVAR:7821 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d720f5d4-0bf2-4ea4-a7c7-9a6a59fc1206 CLINVAR:7822 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 002a0624-7ffe-4441-9b71-3e8acbb9b956 CLINVAR:7822 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 660dd0a6-670b-4240-9e4c-42d35b9d368d CLINVAR:7840 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 73c2bda9-b258-4e40-8c47-ce62694a84e9 CLINVAR:7840 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b8e3f96a-bcee-4564-9562-2d7e6327394a CLINVAR:186427 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2c07d905-2e1f-4f41-97f4-8cd2db4cd7ab CLINVAR:186427 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4f6d2961-8888-465f-9e69-901e38224bce CLINVAR:142261 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2a928a9f-a31f-4a45-8783-b151414df070 CLINVAR:142261 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4f4cc299-5efb-4a63-bd26-cec2bb7b6cc1 CLINVAR:186161 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 13908116-513c-4e62-9b09-6209e9b0c189 CLINVAR:186161 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 033622dd-ea65-4fa5-a5db-52592aeecdea CLINVAR:184878 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 07666ad0-f578-4b05-a3f7-42df46534d0c CLINVAR:184878 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 78ce30b0-3301-4b8a-951d-39ba68d81d57 CLINVAR:127696 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a47b4fa0-a531-470b-9120-31d1e1d75565 CLINVAR:127696 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6502f60d-a954-44d1-9392-e0a20169fd3a CLINVAR:45304 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 796bfea3-aafc-4e5c-b725-252919dc32a7 CLINVAR:45304 biolink:is_sequence_variant_of HGNC:5173 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a595c85c-a2eb-47be-8ccc-07c8e8548826 CAID:CA16020890 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f18d4ae3-1d0c-4dd8-8512-cfd7c668a0d6 CAID:CA16020890 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a8368ef1-4ac2-4dd3-b7ba-7ce8c41a1733 CLINVAR:376018 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 41b4cbbe-fdec-424a-ac83-dc798ce8d70c CLINVAR:376018 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 92b457b8-732a-4881-8670-d2fc689b6389 CLINVAR:545522 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2c0c7559-a268-4c56-b608-97ba0a6fa82d CLINVAR:545522 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 448c9cc9-c280-4c0d-8a31-197464559720 CLINVAR:14467 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9ed403e1-5bc0-4487-9ad7-0aefcf40ba30 CLINVAR:14467 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b100da8a-147f-4d9c-bec7-d7647271b910 CLINVAR:561222 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c31dbbaa-c0c8-4103-afe9-a0ff76ffa44b CLINVAR:561222 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 27159166-894a-4b10-bd9b-4a2e54bfdfb1 CLINVAR:14465 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6e7d4355-7d6a-40ff-9028-4b5660a163ee CLINVAR:14465 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 374d7e8a-ba0e-4eeb-8721-8c668efab585 CLINVAR:429813 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5a899ca7-8ed9-4b71-9f0a-de8f739a32ec CLINVAR:429813 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e30d0b82-307d-4b7e-8b56-e639402f3eec CLINVAR:14468 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 37164a60-621a-4b7b-979f-bc44581e29fc CLINVAR:14468 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d1081ea8-9e82-4ba8-9504-9a625c8ff41a CLINVAR:14471 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a4d12693-b9cc-4cef-bce9-d66a4bdb181c CLINVAR:14471 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f62babad-bdb3-4c41-bae8-105bb33e57e9 CLINVAR:417961 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f7d4a830-cc42-4a7d-9089-f5e46fe99049 CLINVAR:417961 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 341cd86c-4e92-4f3c-be4d-410bb853c63f CLINVAR:212089 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 162e726c-ff1a-4079-941b-729c24768ed8 CLINVAR:212089 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f31a7ed0-8d85-4ac6-a2e2-2e32422c5550 CLINVAR:14464 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e338c9f8-51a1-419b-b274-febb7d1e2265 CLINVAR:14464 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fb48b0f6-b147-4022-87a1-7f36a8f54c7c CLINVAR:666273 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 80c841a1-30c8-4a29-829e-106e2d0b7ee2 CLINVAR:666273 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9fc46f68-b89d-4940-8a46-f8484d931cd2 CLINVAR:463988 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e707d20d-408b-435e-91d5-9770a9889fb4 CLINVAR:463988 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 372172ee-e5b4-490a-bd51-f693861259bb CLINVAR:14470 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7bebb5cd-9eea-4209-b708-2282958648ca CLINVAR:14470 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 254ea3f9-9bef-4909-a217-a562f6f2da2d CLINVAR:436616 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0552552b-d4d5-4b1c-bd2b-d40e98889667 CLINVAR:436616 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen beb58fd4-4408-4769-96a2-21c826de6823 CLINVAR:14463 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 16dee43f-26e1-4ab1-a21b-c594c9dfa85c CLINVAR:14463 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1fba8827-008a-4f2d-aa78-854622d50894 CLINVAR:409822 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3e487b5e-ebb3-41a0-b29c-a6dcc89f0190 CLINVAR:409822 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0e28287d-e47a-4ad9-9c88-4fb850afdae2 CLINVAR:14466 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1094e351-45a1-46aa-b0fa-6fb3b75b563f CLINVAR:14466 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2ea59f60-0e53-4f7c-823c-b802f3e9f831 CLINVAR:532664 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a9a6f37f-d9e9-4753-9273-ccb452f0b89e CLINVAR:532664 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 815534b3-85d7-4579-b334-f73481802d06 CLINVAR:339874 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b2d67237-f79e-4c1d-a324-0c9e3eadc1e1 CLINVAR:339874 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 61002102-fd18-4e98-adf1-4bc4c84f8b66 CLINVAR:532662 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1b96e18b-c549-45f1-88d3-1fc5500aafc1 CLINVAR:532662 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cf5966d6-3e12-4a3b-a99c-177b23bcaca8 CLINVAR:436618 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c72dc16e-47a2-4cac-8908-a4ae8b3a008a CLINVAR:436618 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6f1e3b17-a965-4e94-8946-5495134c16cf CLINVAR:532659 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9c0fb305-6670-4956-9408-bbdb93822ccd CLINVAR:532659 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 56f6f756-89cb-4dfe-aded-50440aedd720 CLINVAR:561246 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 73fac1c7-1eeb-4d31-8a02-7f58eb93dc72 CLINVAR:561246 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 70b7f5a9-aa33-489c-b4b4-cdc2764e8283 CLINVAR:561243 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 05a98783-460b-43a6-9c55-8089844701c8 CLINVAR:561243 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 865a50cd-536c-44e9-8137-1e8e900d1f2a CLINVAR:463994 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e54ef8f7-312c-49fa-b23e-47b58ce95b22 CLINVAR:463994 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2d0f50fa-2b76-4831-8ebe-ed698f8f677d CLINVAR:532671 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f1ac2c55-f86f-4ca9-bb0f-54a870adb5ee CLINVAR:532671 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen db97b11d-4ede-4059-8543-3372810baf07 CLINVAR:436617 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen afec199c-5b31-45d9-b427-fe56d722b9e1 CLINVAR:436617 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 46c8569f-8ebc-4998-88ea-018d027ee3a6 CLINVAR:561233 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8d507241-9f01-4dd2-9651-0d919dce0849 CLINVAR:561233 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 019df50f-c61f-40d3-9049-2a9381fe4db0 CLINVAR:666274 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5e4cad35-bc39-42be-9da1-b6e8b3ab2e98 CLINVAR:666274 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7e59a036-51ac-47df-8e0a-77fd3407d2b9 CLINVAR:417477 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 57093774-dfc5-4522-97f2-6d533c6ddfd1 CLINVAR:417477 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d72997d1-8499-4c6d-ad1f-d6a7499cd667 CLINVAR:463975 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3089c20f-6d7e-4dae-9282-7e546389f0f9 CLINVAR:463975 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 16709e9f-f1f8-4ce5-818d-11745f8d35ab CLINVAR:254081 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 198ed700-6e74-4f28-987c-e7ac2a2f32d2 CLINVAR:254081 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ff618ba0-2e57-48a1-9825-f6d173438dea CLINVAR:120275 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 04898ef5-fd9b-470c-926c-e9d61189527b CLINVAR:120275 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 483c9b09-b954-42dd-b1ab-54b44c1f6e52 CLINVAR:102892 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8434a7f6-0495-4ca4-a2b2-d9523020c637 CLINVAR:102892 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ebe35f03-9f3d-4bad-855e-549eb8854089 CAID:CA16020877 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 20cc91b7-29f0-4198-8594-bed214f4b4c6 CAID:CA16020877 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6293e3cc-15fa-4ac1-be03-1748832b8869 CLINVAR:125436 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 883fc680-ff02-48ba-a29e-79bb5c519351 CLINVAR:125436 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a74874a7-ee7d-42e2-978e-324d222e3b77 CLINVAR:120278 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen aa51b215-e676-4f61-b245-8cd6c9f99496 CLINVAR:120278 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3ba4136f-b3ed-46bf-ba2f-34c9238f4856 CLINVAR:102832 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1b131923-f9f9-4419-bdf9-0b81691ac5b6 CLINVAR:102832 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 363d3291-daaf-4d46-a5e5-2ad9f5ce8e57 CAID:CA16020720 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d4a9b20c-6668-4aea-81b9-0bb825b21f5b CAID:CA16020720 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 016ec32a-75ee-4f9f-98f4-0060037ed88a CLINVAR:102749 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen bbe389c9-19f3-4453-9cc5-32fd9320ab39 CLINVAR:102749 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eb341208-c97c-472c-a78a-a1724729f6eb CLINVAR:102757 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7676c246-1fbf-4fee-baa5-4dc5c3b6b91b CLINVAR:102757 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1b3defe1-fdfc-4a4e-b36e-b9c54e1dccfe CAID:CA16020722 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9cf26921-4d08-4453-beaf-afae4a591d8d CAID:CA16020722 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b052fa44-1214-4c1f-8431-e2b99887213f CAID:CA16020714 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7dece4d4-0b12-4fe0-85d2-1afae7d0304b CAID:CA16020714 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a85caf9f-1aa3-4921-b312-d10baad0ef0e CAID:CA16020715 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f1fd80e0-3b96-4ccf-8ae3-3158f605d2ba CAID:CA16020715 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d2085248-8480-41f7-9145-faead5fa0b86 CAID:CA16020716 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 723ed301-b3b5-45fc-8514-9c16f29e05a9 CAID:CA16020716 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4d30fe6b-ea73-4a8a-844b-aaf61b819360 CLINVAR:21385 biolink:genetically_associated_with MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ca5f0a8b-7dfc-4af7-996c-a258694c598f CLINVAR:21385 biolink:is_sequence_variant_of HGNC:4284 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 42a8b185-413e-4aaf-8622-c35d5070f7ad CLINVAR:444219 biolink:causes MONDO:0020678 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 57cb58f6-9a9a-4b5b-8d1b-aae1c1bb71a0 CLINVAR:444219 biolink:is_sequence_variant_of HGNC:13733 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a3d85352-85a9-4c35-95dd-3dbca8d47620 CLINVAR:2356 biolink:causes MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b972d1d4-44a7-4fe1-bb6e-d02fe155a522 CLINVAR:2356 biolink:is_sequence_variant_of HGNC:12601 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fa274e67-0223-46d3-908d-5db684a5705e CAID:CA891862634 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5cfb995e-c8a2-4dc7-b759-78d7321c4a4f CAID:CA891862634 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ac8cab96-54b4-42c5-94dc-703c71fed451 CLINVAR:102597 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen db0f5c16-02d0-4a1a-93f5-20d0d77eec52 CLINVAR:102597 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d76c8bb3-f74c-41ee-86c2-998228c0984f CLINVAR:120310 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c4b9b4d5-be1b-4305-9d94-12268e40a305 CLINVAR:120310 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2310bc61-126f-4978-b9f4-4aa4641fcc6f CLINVAR:611 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 156edec2-0f04-4e14-add8-ae315135c776 CLINVAR:611 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7571e91b-6fc1-485c-afe5-baa04787c859 CAID:CA16021002 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3ae64551-8df1-465e-94ed-882596853202 CAID:CA16021002 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cec90502-2b04-43b6-a67a-cf1da050264e CLINVAR:102531 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 275e9162-7e03-4ced-a017-9c951b2468f6 CLINVAR:102531 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 86703717-af80-45e4-ad78-7d2bf9549854 CAID:CA16020735 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7d019914-088c-4239-813b-bb0ebbccc665 CAID:CA16020735 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4b02e0aa-eba8-4939-afd9-babab293d109 CAID:CA913184971 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3d7e0241-3c96-4815-95ec-9ecca9196dcd CAID:CA913184971 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1726c0cd-afe4-4ea5-9fc1-1b900fbb5537 CAID:CA16020737 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2be5c40d-65d3-4e95-b433-6dee4b57b985 CAID:CA16020737 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9dde28e5-2115-416e-97db-871c2e2d5c6e CAID:CA16020872 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ed774bea-c485-462f-ad00-0c6fa1412402 CAID:CA16020872 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ee771435-40f7-4cfa-9907-ee0c988a9d3d CAID:CA16020746 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 408e2539-1f52-4a68-af72-809fc751e623 CAID:CA16020746 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 02672956-d59c-4c06-860e-d3d9c561537f CAID:CA913184978 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ef0ec6a1-1c77-443c-8166-b6fd748fb283 CAID:CA913184978 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0e472b35-6e21-4c4e-aaf8-962e6122b6ba CAID:CA16020742 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f64cbf9c-8b1b-4bb5-a9ae-dd79ed86081a CAID:CA16020742 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d6cb0168-e851-49ba-b119-b7fbff01ce89 CAID:CA16020759 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1e6eaf0c-ae1f-44fd-836c-ff6497de956d CAID:CA16020759 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f48b0672-12a4-4d4e-8d86-7c279dbba1b8 CAID:CA16020888 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3a39dd39-298a-4ba6-ab20-5867b803fc31 CAID:CA16020888 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ed48d88d-9ac0-409b-8f59-803a47852cbe CLINVAR:102888 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1d48daff-6e0d-4954-9918-65f144134fb8 CLINVAR:102888 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ebb24b5d-ea41-4fbb-ae62-3a62c5fbae1a CAID:CA16020730 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c55e3d3a-b6fe-48de-9732-d374dd3b475c CAID:CA16020730 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 79610d72-c6f6-4253-accd-402f7bc6103a CAID:CA16020721 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ba7d9fc8-9e5a-45f6-a5b8-c5f103a63ebc CAID:CA16020721 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c2f7fad3-2c9c-400d-9553-98fe81820bb7 CLINVAR:102607 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6cd5ac6e-a2bb-4378-9465-ea904ff7178c CLINVAR:102607 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 37e6bb42-3168-4220-bcec-ec46b31a3a1a CLINVAR:102613 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5c928158-c6d3-4ccd-b986-ec04a50aded7 CLINVAR:102613 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3ec6df63-33d9-411a-a9ec-9c294b8664d4 CLINVAR:555212 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5430697d-2c87-4a9a-8d00-34cccaa1b9d1 CLINVAR:555212 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 27907a06-56f9-4379-90ca-742542a085c3 CLINVAR:2355 biolink:causes MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a8b84762-545e-4c5c-baae-d03ec172e681 CLINVAR:2355 biolink:is_sequence_variant_of HGNC:12601 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ff844e6c-94f1-4a72-b72c-b93e9b8eadaa CLINVAR:140803 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c84f0756-2e0f-4e94-9d97-7db8e337d239 CLINVAR:140803 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 24a25d14-2f3d-4b29-92f4-1af519f816a6 CLINVAR:545785 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ad764f3e-913d-4d80-8918-d406d84e7ceb CLINVAR:545785 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5aba916d-87df-4c5b-bab1-65afc7ae33ab CLINVAR:582514 biolink:genetically_associated_with MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e075f349-d046-4f3f-9c12-4afa2b98ac9e CLINVAR:582514 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0749590a-dba0-4ec4-b554-b76281a10a8d CLINVAR:545738 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1ca4b56e-0a73-4df2-81bf-98604775881e CLINVAR:545738 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aa374549-6f97-4dac-9c04-497e08c1bf93 CLINVAR:578952 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b7e5a88f-0b96-46ac-8ff9-d45c5af5d638 CLINVAR:578952 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fdcd90cf-3285-41e6-afbe-5cd3ccef43bc CLINVAR:463743 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b301f039-a6e2-40b0-85d6-21075de43dd8 CLINVAR:463743 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b0fac6df-376e-4c5a-aa9d-b5e043ba2df6 CLINVAR:142888 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b09f916b-40b7-4199-9de5-db52a01cbd67 CLINVAR:142888 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 45549637-16a5-421c-9629-b697495ebde3 CLINVAR:141206 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0f3172a1-d97e-432c-a0c0-e2a3c269ba28 CLINVAR:141206 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 018b35f3-e8dc-4034-ae49-3ea1a6c84c1e CLINVAR:406669 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 90f4648e-4f9c-4f6b-bbba-2a54c97d132e CLINVAR:406669 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5b36d61d-3bc6-45f4-9f00-83016ba1aa47 CLINVAR:483251 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0f46675a-48af-4358-9096-316c9177b182 CLINVAR:483251 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0c497a42-4d6b-4579-81cd-8e591d0f43a7 CLINVAR:406628 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0efc2443-a805-4844-adf7-c1c72ab1378f CLINVAR:406628 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 751099bf-9d30-41c6-9101-87bfd42adcc9 CLINVAR:406616 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4c0d9f6d-baee-43b0-b884-5cc362f1f3ba CLINVAR:406616 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 98be61dc-ac69-4d93-a347-6cf3bee0736e CLINVAR:483227 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c37c8954-6dbc-4b41-b646-77f39e85f4bf CLINVAR:483227 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ceb56045-728b-482b-883b-9d4cb6613d31 CLINVAR:422315 biolink:causes MONDO:0100488 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a8af3fec-ff5c-40e2-81f1-2de904be09e6 CLINVAR:422315 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b6bc687b-db7a-4c9d-97e7-8bbaeebc971c CLINVAR:463742 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8b3c803b-bfb7-4744-a417-7f8ac6eff98c CLINVAR:463742 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7e9ce942-c385-43f1-8d26-192ed16b1507 CLINVAR:239891 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 508d7471-12b0-497b-8d3b-dc708914a798 CLINVAR:239891 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a9e08cf7-b724-4eb0-b4ae-50ec71e16644 CLINVAR:231923 biolink:causes MONDO:0100488 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9064ce34-58c9-46db-807a-2e5d04722b12 CLINVAR:231923 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d85d8686-23a6-4338-81c0-288744d15046 CLINVAR:567608 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 69d72f5b-36f4-4482-9401-15062998b7ea CLINVAR:567608 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b83724ac-76d7-4e35-a36e-db06d2221df1 CLINVAR:187239 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f0882d87-b223-4480-9d68-872d65155069 CLINVAR:187239 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a7701d90-8699-4177-833f-b241c6789f72 CLINVAR:233979 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2e5bf012-a9cc-423a-92c4-101a71e45b7b CLINVAR:233979 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f4a74e1c-60bf-4224-a261-e0fc87743879 CLINVAR:230451 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6e59d1b4-056e-4d1a-8291-a90ae91264bb CLINVAR:230451 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8f65cf7f-8ada-447b-8647-cf0c27cd86cd CLINVAR:156374 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 48c3f5b9-ef59-4988-ad83-034a89c1a21b CLINVAR:156374 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fd567555-9c6f-4653-a8aa-681fe8729e6a CLINVAR:234595 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ac7a019b-7e29-44da-8b5c-a4d618bfd814 CLINVAR:234595 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4fd09637-57cb-4080-8ad2-9841220e27e2 CLINVAR:234594 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen aca8b6c9-f01a-450b-b42a-8990e6953cf0 CLINVAR:234594 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 06665ec1-0448-45aa-aa48-57ec695a3975 CLINVAR:183750 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8c984b1a-5f00-4110-a0a4-e29105ade3a1 CLINVAR:183750 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b0cf6c8c-6b7e-426a-87e5-8afc20970c6f CLINVAR:12240 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5782844b-7d7d-4e34-8055-ce2b187baa3c CLINVAR:12240 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8a62bd5e-ba15-49da-ac2e-2a709b7e6dd5 CLINVAR:406646 biolink:genetically_associated_with MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 71907ccb-e8ff-4c57-8dff-a2a4f98e63da CLINVAR:406646 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 586801e5-f1fd-4378-b38c-ae7941c1847b CLINVAR:491538 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9bfb925b-f24c-47af-89d9-09c8c80cb927 CLINVAR:491538 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8e733500-b514-45ef-a9ac-89ec5b627117 CLINVAR:406644 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 157ffa02-383b-4647-bc4b-29c1096dfec3 CLINVAR:406644 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a54f2161-3579-48a4-af0e-927e14fef972 CLINVAR:12234 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9726c842-d930-4200-b700-d90721075674 CLINVAR:12234 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a5da3e11-c386-4201-a2ba-943563ad7bb6 CLINVAR:567085 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7ef22078-2bb5-4c75-b71f-d5230f8e30ad CLINVAR:567085 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3eb53138-bb21-47a0-b5a8-b8ce55c3c840 CLINVAR:182393 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4770db88-d4cd-4d7d-bafe-6f349c76532c CLINVAR:182393 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3fbad38a-cd9b-4cd0-8d0b-39c91579961e CLINVAR:230948 biolink:genetically_associated_with MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ef4f2c61-a697-4aa4-b7c2-8a802655eff1 CLINVAR:230948 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c8890c3b-b3e4-43e6-aaed-82fa88ca8728 CLINVAR:419385 biolink:genetically_associated_with MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4b3ac5ab-bc79-4031-80e5-41a9e7509327 CLINVAR:419385 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8a994849-49d7-40e0-a183-7da276c0983f CLINVAR:141661 biolink:genetically_associated_with MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e1f30417-52b6-429c-8af2-4a0e54f73e9b CLINVAR:141661 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 43edb716-7d00-4584-bc07-11f492250337 CLINVAR:496819 biolink:genetically_associated_with MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 60fcb2c9-8f16-47de-9a2b-ed8d81a9274b CLINVAR:496819 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4ea10009-6b7b-458b-811e-b9c11f2c2dbf CLINVAR:428618 biolink:associated_with_increased_likelihood_of MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9aa0fd81-7b5f-4d90-a2d0-9f90bfb27b55 CLINVAR:428618 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 95ec778f-0756-453b-9c39-2fb6ce8e1c64 CLINVAR:492677 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 04f0de61-374d-4112-911d-6c062180b4d0 CLINVAR:492677 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5280c900-8574-4110-ab0b-0b428c3c9288 CLINVAR:12236 biolink:associated_with_increased_likelihood_of MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7329da92-1b5e-4177-b226-53bcc46a8368 CLINVAR:12236 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a0cb8a2a-187b-4a2c-ae1f-e979f4016352 CLINVAR:185408 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 35b1a51a-3700-4e74-88ce-2656e5b13af3 CLINVAR:185408 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9b5211d9-25e4-4cc6-a1b3-35b7805dece1 CLINVAR:230956 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 06c99cae-08a6-46ed-8e10-f3bcd7b7d134 CLINVAR:230956 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ce5a4720-eb6e-4377-a3cf-441274eb5493 CLINVAR:12239 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e2f5bf94-ca4d-4df4-a83c-e9d9e896542a CLINVAR:12239 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cca202b9-de43-4e1d-8faf-3f74ee86e96b CLINVAR:548782 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6d16d4ff-42c0-46c1-b2de-05a3dbe74ea6 CLINVAR:548782 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d654e8a6-d3e3-4391-844a-1367c52e4ad7 CLINVAR:179479 biolink:causes MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 65830c0d-17e7-4c51-895c-5ec4c0298580 CLINVAR:179479 biolink:is_sequence_variant_of HGNC:7606 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5cf540b9-2d9e-400f-9dc4-85050ab3e3b3 CLINVAR:141951 biolink:genetically_associated_with MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8940a539-bc0a-4902-8548-a10b7ebcadf2 CLINVAR:141951 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4e32e6e0-5ea8-44dc-9dd1-b411cdfe9157 CLINVAR:239909 biolink:genetically_associated_with MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen afb7ab9a-34b0-4129-b1f0-8e4e665c9706 CLINVAR:239909 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a228ba12-581e-49bd-bec6-c0b6acceeea9 CLINVAR:428628 biolink:associated_with_increased_likelihood_of MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f715db1f-216b-443b-b022-b761c9d9bebb CLINVAR:428628 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1ae7e2f5-667b-4380-b536-6704105ab808 CLINVAR:279747 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b3caf90a-a589-494d-a5d0-905af031110e CLINVAR:279747 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0b87e1f5-6180-4f04-9bd4-6e3ec04b544a CLINVAR:186618 biolink:associated_with_increased_likelihood_of MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen dcafa9a6-8f30-44f2-8336-440ef4f459b9 CLINVAR:186618 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b88d279d-3567-42d9-8b41-c5b16e57d379 CLINVAR:43528 biolink:associated_with_increased_likelihood_of MONDO:0010134 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 90e748da-3512-4fd6-a7eb-f8eed315acd6 CLINVAR:43528 biolink:is_sequence_variant_of HGNC:8818 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 513f2312-454b-4b98-8057-beba117f5c69 CLINVAR:43527 biolink:genetically_associated_with MONDO:0010134 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5cc15d32-5171-4f69-be88-7645e338253e CLINVAR:43527 biolink:is_sequence_variant_of HGNC:8818 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fd223bdb-ef40-4c9b-a1fe-116d5636d099 CLINVAR:255733 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d59e0b19-8103-453d-bb5e-887173b98b63 CLINVAR:255733 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e5224ffb-0af2-4568-ab31-b73995627726 CLINVAR:616 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 54f8100e-ef7c-4755-bdf8-f1effd1367ce CLINVAR:616 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4eeab541-adc0-4855-a823-6bf6899cee19 CLINVAR:430401 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2f592189-22cd-4f8c-b867-6e251d5bb757 CLINVAR:430401 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3115f4dd-beb8-47d8-b511-24cc59c8e47c CLINVAR:194161 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 64d1a162-0eeb-4f8d-886e-2a1768efc648 CLINVAR:194161 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4c9b51be-de5c-4357-a3eb-bec10e73f2c2 CLINVAR:102565 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 38cdb27e-2d25-4691-b37c-2a7e7dc35c48 CLINVAR:102565 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 85c1f572-9cf9-4644-885c-ad7b8430e972 CLINVAR:439227 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fc47f159-cfee-4750-9808-b9dcc6986979 CLINVAR:439227 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ab3578c3-918f-4d2f-9a13-b673d0a7cd3b CLINVAR:102674 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 35865e49-49d3-465b-ad0a-2e4ae43b3223 CLINVAR:102674 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a18feea4-6c01-40a9-b102-5af829dff278 CLINVAR:102633 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 04440482-14a7-4e0e-a423-6efae2360675 CLINVAR:102633 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1e428b13-1ee1-415c-a5a4-3d7ff1f2ce9f CLINVAR:120292 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b573d808-865c-4666-8b49-224121ece1ec CLINVAR:120292 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cf1fe84a-2e57-43a5-a7c8-781b96ee5e06 CLINVAR:120296 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen bfcebf5d-9e61-4afb-a862-a8055c60ed30 CLINVAR:120296 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8dcc829d-08f1-49a0-be98-989b3b6e2aa9 CLINVAR:120268 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9a7ad19e-fa88-41c3-b676-11762e55521f CLINVAR:120268 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f6bdd77e-b206-4e7e-b7fa-4d93430ca31e CLINVAR:102608 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c7f73c74-dbe0-4bac-b97b-abc756e0bef8 CLINVAR:102608 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f03bff96-fdb5-4484-a2c4-fb4e338f17f3 CLINVAR:40842 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5563a378-af20-43d1-ab6f-8cc06c1c2bf4 CLINVAR:40842 biolink:is_sequence_variant_of HGNC:6842 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 791f7119-3be1-4366-bf75-266cc0a2e61b CLINVAR:181510 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 973eefda-f4fb-4791-bcec-fc816f955715 CLINVAR:181510 biolink:is_sequence_variant_of HGNC:9829 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0a18876b-3ee4-4205-a6e7-40b8b85973ae CLINVAR:180859 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8939ee64-65ef-47ee-94a4-8d4bbae07715 CLINVAR:180859 biolink:is_sequence_variant_of HGNC:6407 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 135ee028-d82e-45fb-ac95-dcad75a5ef54 CLINVAR:830078 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a3cf508e-6bfb-4a71-93eb-89568e61d992 CLINVAR:830078 biolink:is_sequence_variant_of HGNC:11187 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 58b640d4-540a-4e2c-a45e-2c36ebc60d28 CLINVAR:438172 biolink:associated_with_increased_likelihood_of MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f908b10a-536b-4cbe-96ac-0d399ea71b30 CLINVAR:438172 biolink:is_sequence_variant_of HGNC:7606 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bd668ced-10de-4f63-93d8-f38ef2be20f8 CLINVAR:45366 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 55587ac5-85c9-42bb-b1ff-692361ad6b7b CLINVAR:45366 biolink:is_sequence_variant_of HGNC:11187 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9e1cd132-e588-45b4-b524-2496a6e55ddb CLINVAR:4928 biolink:causes MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 34ea1c4c-312a-46db-9296-8ff3a1ca23c7 CLINVAR:4928 biolink:is_sequence_variant_of HGNC:13733 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1ffa48e1-9446-4b7d-a7f4-ef3c27999e0e CLINVAR:590799 biolink:causes MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 737ba852-2c34-4393-bbb4-72efca361804 CLINVAR:590799 biolink:is_sequence_variant_of HGNC:4284 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5eb1a7ef-d6db-4b13-80f5-e0585f5128c1 CAID:CA16020920 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6e635e24-4f68-46ab-999a-d1b86afbc972 CAID:CA16020920 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0dff4267-a153-4d5d-81ea-71a2dc6deb23 CAID:CA6748732 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2727f08f-104f-493a-9f33-cfee5348707f CAID:CA6748732 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 48925a74-1f01-4916-967c-be3874c4dfbd CLINVAR:4926 biolink:genetically_associated_with MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d833cd12-eb1f-4fb5-b294-1c5867f75c93 CLINVAR:4926 biolink:is_sequence_variant_of HGNC:13733 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2d49e64c-75f5-4685-8aac-99527de1849c CLINVAR:48503 biolink:associated_with_increased_likelihood_of MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 116895a1-fc91-4556-b9bf-f35e75419b98 CLINVAR:48503 biolink:is_sequence_variant_of HGNC:12601 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1f295860-6f97-4332-9568-8c0fd9e304a9 CAID:CA16020771 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9ccd7213-038d-40d1-9b5d-5cea90bd3998 CAID:CA16020771 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bb734206-d991-4381-86b3-584d74f1e8db CAID:CA16020929 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d3743f06-d8a5-4396-a1f3-dd0b78150f0e CAID:CA16020929 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 31070488-5327-4c3c-8bb0-dd1dbebf1f08 CAID:CA16020930 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b2997435-76dd-426a-858b-dcc2e0944898 CAID:CA16020930 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 58b3c17e-56b5-4e97-bd02-50d0a2575825 CLINVAR:604 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 663d48a0-67df-4013-8cb4-5909a747715c CLINVAR:604 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 950e1207-e2a5-4981-adb3-04458dbc5b25 CLINVAR:102672 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7340e00c-3883-4667-a5e1-fd8e45684285 CLINVAR:102672 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c7fd5e1a-1cde-4e17-9001-980ae44cc5c4 CLINVAR:438177 biolink:associated_with_increased_likelihood_of MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen fef02d2d-7f50-4661-be17-abaedf9bd6fa CLINVAR:438177 biolink:is_sequence_variant_of HGNC:7606 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 51516df7-2fdc-4ca3-9899-0e524639f5d5 CLINVAR:430229 biolink:genetically_associated_with MONDO:0010134 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6b04d251-d61e-4940-bf63-5e0afe1eb0b6 CLINVAR:430229 biolink:is_sequence_variant_of HGNC:8818 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cb7bdae1-edca-4dfd-a10c-617661fcd4b0 CLINVAR:179773 biolink:causes MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 82d84055-5f5d-4245-8e7d-431240fd3275 CLINVAR:179773 biolink:is_sequence_variant_of HGNC:12601 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b7f9abe4-e713-43af-81dd-ebe4d9e2ccf9 CLINVAR:48395 biolink:causes MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d4189785-06f4-4e8d-bde1-57fcac2eb499 CLINVAR:48395 biolink:is_sequence_variant_of HGNC:12601 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fa2798c4-b8b7-46d3-b561-4783b6917d42 CLINVAR:226441 biolink:genetically_associated_with MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 20f6b768-49cc-44ff-84df-b9c25ade97bd CLINVAR:226441 biolink:is_sequence_variant_of HGNC:12601 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c7696717-efe0-4d8a-8925-cb943290f628 CLINVAR:43521 biolink:associated_with_increased_likelihood_of MONDO:0010134 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d0c57cdf-8f26-4ee8-983f-c95ecdd786ad CLINVAR:43521 biolink:is_sequence_variant_of HGNC:8818 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8758d635-8e4a-45f5-8986-df4e4582febe CLINVAR:43186 biolink:associated_with_increased_likelihood_of MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8f4166bc-777a-4cc3-8089-ee7654131e00 CLINVAR:43186 biolink:is_sequence_variant_of HGNC:7606 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 483ac363-fd01-4347-bf35-bd7a2b429bf1 CLINVAR:48544 biolink:associated_with_increased_likelihood_of MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 213d7c99-5502-432d-9900-c3d357516028 CLINVAR:48544 biolink:is_sequence_variant_of HGNC:12601 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b45c2145-fe3a-4a9e-a0a0-c47b2dd918a3 CLINVAR:48417 biolink:genetically_associated_with MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 82104e90-0d4d-4d8f-b04f-48de5994cd81 CLINVAR:48417 biolink:is_sequence_variant_of HGNC:12601 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7c9f2d30-fd83-4601-926c-acc039bf0999 CLINVAR:429984 biolink:associated_with_increased_likelihood_of MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a0352de3-e1da-4738-83c1-655caf0116a0 CLINVAR:429984 biolink:is_sequence_variant_of HGNC:4284 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a3c2ace8-c97a-4637-8bdb-91f8c617061b CLINVAR:290125 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen eb1443ff-47d9-4cb0-aca4-20081179176b CLINVAR:290125 biolink:is_sequence_variant_of HGNC:11187 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 54c3fb6c-d680-44c2-8858-115d4a49dda8 CAID:CA16020924 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 93499357-45f0-4451-950c-c063c3e008db CAID:CA16020924 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0afd0fed-4efc-4661-86c5-1f967c740419 CAID:CA16020966 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 82434841-11b4-4d5f-a1dd-2c932a4dc534 CAID:CA16020966 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 40395de0-3a49-4b35-bc31-e3150a78b678 CLINVAR:102589 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4887e048-a6f1-4128-83cf-aec9a0ce1094 CLINVAR:102589 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4d543fa6-257b-4b83-ac2a-be209811d5de CAID:CA16020931 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 73aa3eb2-b6f0-47ea-b03c-1622bfdc2cc9 CAID:CA16020931 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 91d317b0-7e3a-470c-9206-3958ef64bde1 CLINVAR:102590 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e65b366a-2435-45cd-8432-93d51cda9380 CLINVAR:102590 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0670153f-3dd6-4cc3-9914-ba12c614a8a6 CLINVAR:585208 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4d5fb0ff-3697-4d67-acaa-aa39f25a56c7 CLINVAR:585208 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9b6fa06c-5f99-413d-b348-eb392a3f9982 CLINVAR:120293 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4a0d14ec-b034-40ea-9118-b698c597b6f7 CLINVAR:120293 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a8f90e66-7ee3-4dc6-a543-445f5cd46467 CLINVAR:120295 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen cacd866b-3d78-46ca-9f9e-697131592380 CLINVAR:120295 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 91ac5fc2-917b-4572-a5fb-244587fdcd91 CLINVAR:120294 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 98f0d2d6-f4c1-49fa-8e4a-e828ebbcdc75 CLINVAR:120294 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f9903301-33a0-4e91-a3b7-2d060f2385a0 CLINVAR:549954 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 30742714-fec2-47a4-8b5d-a699fa6ba839 CLINVAR:549954 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 59f7b60e-85e1-4cde-ac61-3fc74133b119 CAID:CA16020754 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9104d80d-e34a-4592-b83a-3f3a545299f1 CAID:CA16020754 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e2f6051a-3c00-4c71-aa3b-068da6ab92d9 CAID:CA16020755 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen dc1db690-0c45-47b1-9350-25f49310a083 CAID:CA16020755 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6398df6d-acd4-4f14-95d0-73c42ec757fa CLINVAR:872832 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 98b6041d-fbe8-45d7-b6f8-4bec72e4bd78 CLINVAR:872832 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c68af40e-48cf-45e0-a457-11cdc7f555cf CAID:CA16020782 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4461e233-90d8-4c5e-82ea-a70c2f409fe2 CAID:CA16020782 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3ea1c662-1fd7-4fe1-a4b8-85f89901b391 CLINVAR:872834 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e6de7754-e6e8-4eea-a003-fa3e7c8aa3b3 CLINVAR:872834 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e401821c-9963-41cf-b0cb-251562e825b7 CLINVAR:164724 biolink:associated_with_increased_likelihood_of MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 761dbb57-29e8-469c-9017-0097128cb8aa CLINVAR:164724 biolink:is_sequence_variant_of HGNC:7606 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 165cc4e8-2646-4228-96f5-57903fb349e6 CLINVAR:178667 biolink:associated_with_increased_likelihood_of MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 373f6e59-7d06-46ae-9f8d-427c45c17a10 CLINVAR:178667 biolink:is_sequence_variant_of HGNC:7606 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c54a23ae-0fcd-4926-a003-d0b2d583a46b CLINVAR:43335 biolink:associated_with_increased_likelihood_of MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6d2a929d-ce30-46ad-97bb-5a588cb9478a CLINVAR:43335 biolink:is_sequence_variant_of HGNC:7606 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7a10affa-cac0-422e-a4e6-83248ee11c53 CLINVAR:43541 biolink:associated_with_increased_likelihood_of MONDO:0010134 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 29b917aa-67c3-4be9-8749-bed245a9515f CLINVAR:43541 biolink:is_sequence_variant_of HGNC:8818 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7899c528-b472-40e3-b77a-38a448c518d9 CLINVAR:208366 biolink:causes MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 30240b99-f970-41d9-9c40-1230c4d14e3a CLINVAR:208366 biolink:is_sequence_variant_of HGNC:6298 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 38ccfc7f-588b-428f-8bbb-70f30510f7a6 CLINVAR:43292 biolink:causes MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 78f9917b-afbe-49fc-87bf-45cf14752bcf CLINVAR:43292 biolink:is_sequence_variant_of HGNC:7606 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 213df7c2-cca2-4591-8469-546b88c05345 CLINVAR:422345 biolink:genetically_associated_with MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 918f017a-6a8f-4ad8-bac7-532619801707 CLINVAR:422345 biolink:is_sequence_variant_of HGNC:13733 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8dd5de4d-45c2-4a5d-bb53-ad55c4f30311 CLINVAR:228484 biolink:genetically_associated_with MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen dff77889-ed52-48e6-a523-21d01c96d06f CLINVAR:228484 biolink:is_sequence_variant_of HGNC:13733 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b997c696-de76-4c9b-ad8b-eea1e644a578 CLINVAR:228500 biolink:genetically_associated_with MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d5b12472-32cd-4ea6-9d75-33944e3bd79a CLINVAR:228500 biolink:is_sequence_variant_of HGNC:13733 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 753a06e0-b1ff-4cd7-8f41-9c1c0eedbd13 CLINVAR:181547 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a4bea295-789c-46c3-9678-bc7908a83f9c CLINVAR:181547 biolink:is_sequence_variant_of HGNC:11187 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen be614ef8-a79b-4dce-88f1-dd4eb26f5c3e CAID:CA378386067 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 79d07b11-fdb6-4fc1-8c84-786ef45a37a9 CAID:CA378386067 biolink:is_sequence_variant_of HGNC:15454 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d13bb0cc-58f5-42fd-aa46-c96ab021e8fc CLINVAR:428277 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c101a93f-b567-4620-b725-de9927c796c1 CLINVAR:428277 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c41bed1d-1c0d-4b6b-84d8-07e6f1d6150f CLINVAR:142878 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b8888dd0-c2a6-4e53-824e-4d1af81b8487 CLINVAR:142878 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ff3da122-74fc-43c8-88da-631eb2a176f6 CLINVAR:40498 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c84f2d40-a289-4b9a-b6bc-56fe10116f08 CLINVAR:40498 biolink:is_sequence_variant_of HGNC:9644 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a8e21664-8bc7-4415-aead-ecefae889b91 CLINVAR:279960 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 68deeeb4-5ef4-45eb-bcc2-22d7e0eaa646 CLINVAR:279960 biolink:is_sequence_variant_of HGNC:6842 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1c66f55f-43be-48c7-92c7-2f65a8427477 CLINVAR:13341 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 91c343b1-c392-41a0-81f4-1366c61a47fe CLINVAR:13341 biolink:is_sequence_variant_of HGNC:9644 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3e1853c8-9b89-45f2-aa92-c11f501bd49f CLINVAR:484600 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4cc27670-e705-4513-ae2a-e36ffecfbb76 CLINVAR:484600 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 35772dd5-6f17-4b5d-90ec-4c3e753ed54b CLINVAR:142018 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 91da5267-c0af-484c-ab48-60d9e0bd6a3c CLINVAR:142018 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ebd516a5-c299-4a11-84ec-c2c559377601 CLINVAR:234144 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f0944f43-49ea-4205-a4f1-71569e00775f CLINVAR:234144 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b639e0f7-b6aa-4dc2-9658-04857a8c2841 CLINVAR:404168 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7f9f06e6-5df4-4c19-910e-aef4dfed0843 CLINVAR:404168 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 112676da-a6ea-41bb-8e73-6d1b18f1ae02 CLINVAR:102573 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c5a7ac79-a8ac-4a4d-b966-bb796d53361c CLINVAR:102573 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d55d130e-b651-4ed2-9f0b-3cf1d62527de CLINVAR:629 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c681e24f-c881-473f-bb36-2b8f9961f006 CLINVAR:629 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fc8f91d9-55ab-4faa-991f-022fd84c5030 CLINVAR:102680 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 90ce0b58-3612-477b-98ba-22de1da9da67 CLINVAR:102680 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1b73da0c-f3b9-472d-a7ff-cf3fb9a29ce1 CLINVAR:102685 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c18b3ac0-261a-4179-b1c1-2f05163ab566 CLINVAR:102685 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f394b662-e666-4eb3-bd16-6e618cc7f830 CAID:CA16020948 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 90503c29-6c3b-498c-8aff-46c532781697 CAID:CA16020948 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0d9b1f03-5944-4404-8d12-883ed70cf8fe CLINVAR:102915 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d37c48a7-8c47-4171-9652-7c99a5c94302 CLINVAR:102915 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 51fadb9e-3b97-4233-8263-8222fe75f7a7 CLINVAR:872836 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 36361102-5ba7-4e9b-9b10-33d53f4e5205 CLINVAR:872836 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5dbc5af9-943a-4954-b24d-f6d3c7f48eb7 CLINVAR:427599 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen cb28c066-7cdf-422b-9f7a-a0ba6476d1cb CLINVAR:427599 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8b22abdd-cb49-4a2d-ac8d-9497680dbfb0 CLINVAR:428256 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1bf50831-3d31-4c60-a336-4b61921acdc7 CLINVAR:428256 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bdfe3ba8-6821-4238-bbf1-bea8cb97e4eb CLINVAR:127688 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7ab31079-6892-438a-8169-c08a2f1d2d9d CLINVAR:127688 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d636d363-d8bd-4cf3-8562-cfd937eb7a2b CLINVAR:189415 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen fa37f272-e815-48fd-8213-7bb484f508c5 CLINVAR:189415 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6b210024-da8e-4184-814a-d934e7037f9f CLINVAR:404160 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 38ee1775-6d8b-4de8-8a88-8a065f92638a CLINVAR:404160 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8f908c28-ee34-47ed-ab8d-682ba625a273 CLINVAR:418653 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 81ef1f65-084e-407e-a771-5cd48e6d8601 CLINVAR:418653 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 108a0bea-9fcd-4ee8-acb8-78fd8f07c5e0 CLINVAR:421055 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 96dbe07e-3106-42f0-97a7-4d3a8c89f305 CLINVAR:421055 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 675ff8ba-046f-42ac-b6c1-d3ebe3c64cb0 CAID:CA410202469 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2d0512d7-b3d7-47fe-ad32-06f3c2a50af3 CAID:CA410202469 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b74457db-972a-4248-ae09-e4e5bbdc0bd5 CAID:CA645614124 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c5aaf31c-6bb5-4ec8-b141-4a8b5231350d CAID:CA645614124 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 37ed29c4-ba11-448a-96e8-70d34101c0a6 CLINVAR:561253 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b5ca33af-fbe4-41cf-abd2-8a87ba40a08b CLINVAR:561253 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 001252b9-9700-4af2-bade-6f05bc465cdd CLINVAR:627342 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 24533381-d66d-4f28-80b6-d1de6ea8e402 CLINVAR:627342 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a99553de-fd76-41a8-87b8-b09c186c7172 CLINVAR:869209 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6c6b74bd-62f5-4633-8895-7c5f64c0e1b3 CLINVAR:869209 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 04422fb7-31b1-4b32-b737-5ae0e6084271 CLINVAR:869210 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 76b97176-515f-4291-825c-b8f32f0c2105 CLINVAR:869210 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f3f18595-d99c-4482-a932-6e8772b00bbf CLINVAR:618862 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1d6da286-325e-4de7-b255-0ef8f5edd6d7 CLINVAR:618862 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 00669e9e-05c6-4c9d-b954-141284a911bd CLINVAR:532683 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2def0a37-59d8-4e7c-b079-bc229bbb689e CLINVAR:532683 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f9131639-c156-440c-a86e-b2fc0c360d46 CLINVAR:234282 biolink:genetically_associated_with MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c1f4a664-e643-45a2-98d7-e86180476d59 CLINVAR:234282 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7a474c78-f518-42cd-bb6e-bc107b3656ef CLINVAR:422227 biolink:genetically_associated_with MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6e7dd2f9-3311-406f-9fd9-2b41398cc71c CLINVAR:422227 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7679ffeb-a7ad-4cf6-bbe9-182e15bdf455 CLINVAR:420004 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen fecf7f8b-6450-4de1-b405-67ac6f0908b5 CLINVAR:420004 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eff6d767-76d7-4bfa-a90c-1ee08c9392a7 CLINVAR:463795 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 289d2a0e-bb96-4960-ba82-20e62698e0c5 CLINVAR:463795 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen beb5142b-7583-427d-8206-325d952d5bd2 CLINVAR:437928 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen cdc053ea-f789-4ded-8b62-bdc4f8fc2b64 CLINVAR:437928 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5c606b1b-52d5-4ee3-b233-837c5b448ff6 CLINVAR:229907 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c8602608-0433-4406-a246-6a1e1ba5f19f CLINVAR:229907 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1f4a9690-de19-4286-bcb4-3e872d3b49be CLINVAR:231528 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0c088dc9-0709-40ec-830e-93e2fe818ef4 CLINVAR:231528 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ec933f54-4f6e-4112-9ab8-54c2b8a69585 CLINVAR:224528 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 00cb4147-c0bb-45a6-a74f-14bfbecfd80a CLINVAR:224528 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1737a08b-caf1-4b59-b9b3-9e0cd6b3773d CLINVAR:428620 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c31992b6-8415-479c-bdba-25ffa963ec21 CLINVAR:428620 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 722d9ee8-14ef-4c4e-9908-b15e2006996a CLINVAR:220776 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 463d8d93-6db8-43cd-9b39-de2b329dd987 CLINVAR:220776 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 01a7feb7-fbe8-4591-baa5-687067b782f4 CLINVAR:428626 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f57c4886-1876-4c14-9689-00d94054038f CLINVAR:428626 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6e311da9-e60e-40a7-804c-7028e08d6dea CLINVAR:463772 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 290eb5cd-f9e5-4783-b735-b774281fcc99 CLINVAR:463772 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 12d6e6b0-7183-423a-b40b-cf022528fa79 CLINVAR:406624 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ccdc2aed-b8a1-4155-a45f-e542a466e6da CLINVAR:406624 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0ed367e3-eef3-4b1d-b65f-c4cf152941ff CLINVAR:463790 biolink:genetically_associated_with MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 11ba5a65-e404-4096-8051-a241d5b48fbd CLINVAR:463790 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e0c85aad-f42a-4753-be02-975e1c6c1429 CLINVAR:569046 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5a666bb0-dfe7-451c-b1c7-bb8864fdd55d CLINVAR:569046 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 30b7cd5b-663d-40e8-bf70-fd757d7657db CLINVAR:239903 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c14437a8-5fb1-45a8-b06c-f9f0838ed446 CLINVAR:239903 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9fe3e78c-91d6-45db-8305-a89a7c719cdf CLINVAR:463781 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 28dca293-b2b6-41c1-85da-ff7d5be4a193 CLINVAR:463781 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9c700375-a0c0-4bde-a9a3-86ed281037c2 CLINVAR:418533 biolink:associated_with_increased_likelihood_of MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c9f96293-8333-451d-af81-bcb257ff2df1 CLINVAR:418533 biolink:is_sequence_variant_of HGNC:12601 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4ecd4bb7-b1b2-4b61-8563-ffced493c316 CLINVAR:281818 biolink:associated_with_increased_likelihood_of MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 83a8b7ae-2757-4ca0-a1f9-e48892bba537 CLINVAR:281818 biolink:is_sequence_variant_of HGNC:12601 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 95f2bfd7-7f62-403b-8182-c30b8f8e3511 CLINVAR:133312 biolink:causes MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b6979aeb-17f5-4ca9-ab7c-d81436ce71df CLINVAR:133312 biolink:is_sequence_variant_of HGNC:12601 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 737a7418-0501-4916-9ff9-3bfd966e0165 CLINVAR:196222 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 231401ec-787d-4506-894c-93b77c765a3a CLINVAR:196222 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d04e6112-892e-496a-b3ba-395bd1f04ab1 CLINVAR:325774 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9b03f652-6006-4368-afe2-82b81d0c904f CLINVAR:325774 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e4860388-4e86-45af-9482-01aba8f65e6d CLINVAR:557429 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e52d5d48-09a1-4694-81aa-41623ad5e729 CLINVAR:557429 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d11e02fc-e7a7-422c-b5ab-400f37f26b22 CLINVAR:230112 biolink:genetically_associated_with MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6b27bb74-f4ba-4506-9340-45fde600c32b CLINVAR:230112 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a8357c28-67f7-4fb7-98e4-b41a7daf2feb CLINVAR:406578 biolink:causes MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 85ea41f4-5d18-4a9e-9a39-5d0ee457d9be CLINVAR:406578 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d3735083-0432-483f-b856-e9bc6705d309 CLINVAR:127819 biolink:causes MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 75e82c95-9f10-47e2-9b5a-26c0e0465026 CLINVAR:127819 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5a2488a3-dda9-450c-a96f-8adcc951e15a CLINVAR:142766 biolink:causes MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 574c5d64-6eb8-479c-b781-89177ca16c16 CLINVAR:142766 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1fa9e96b-86a7-4442-918f-cdaf6cf85369 CLINVAR:245711 biolink:associated_with_increased_likelihood_of MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 59bdd83b-f398-477a-9c2b-8e741529160e CLINVAR:245711 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen add55894-aa6e-48f4-bf4b-d11e9c373184 CLINVAR:233951 biolink:causes MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen fa13df2b-aee7-4731-b2f1-dab1f472ed16 CLINVAR:233951 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f50f1624-4473-4635-8fc9-25085ef3d4c1 CLINVAR:127814 biolink:causes MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ac0c0574-024a-40f7-9a30-44369859236f CLINVAR:127814 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b17ea28c-5132-4ddb-943e-dcf84e025a3b CLINVAR:376615 biolink:causes MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8cc585de-7ef1-4fde-ac71-69bd642c0e1e CLINVAR:376615 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen af70e5f5-b703-4951-b58a-4fd36252838f CLINVAR:12375 biolink:associated_with_increased_likelihood_of MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e040b944-a2ea-46fe-b327-a182c05210ce CLINVAR:12375 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5c6ca23c-612a-46e9-add0-43dc599c99ff CLINVAR:93323 biolink:causes MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 899e9d7a-fe8a-482e-9c92-1bde82c29006 CLINVAR:93323 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c6f26c89-1740-43a1-b60c-1238e834ddb2 CLINVAR:12347 biolink:causes MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 771435e8-04a5-4046-8ca1-65af16fa2947 CLINVAR:12347 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 59a3348f-4f5f-4c04-92d4-02358bfe1ef0 CLINVAR:43587 biolink:causes MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3d00bd3c-9307-4f95-803e-64c5a5c1e59b CLINVAR:43587 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9a5928f7-9295-4193-9b6b-1f1d6787234b CLINVAR:230253 biolink:causes MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 421f72c8-e6df-44a9-9a26-7c99ae8410a6 CLINVAR:230253 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a4a6f12b-3b2e-4ce3-931b-e92c2542b9c0 CLINVAR:482223 biolink:causes MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4eb0601b-ec21-4711-9b31-a875f9516175 CLINVAR:482223 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c615c28b-e2ef-4cae-9e4c-b29ea935fc41 CLINVAR:376563 biolink:causes MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 06e95e72-c766-41fa-8b91-d37d652b9438 CLINVAR:376563 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1ee02754-b717-4e88-a47a-131b1440e3fb CLINVAR:428898 biolink:associated_with_increased_likelihood_of MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5446fcb9-d0ca-430a-a6d9-120b20c5a3f0 CLINVAR:428898 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6b2c9baa-202e-419c-a1ac-1c453663947e CLINVAR:458537 biolink:causes MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6675cbcd-1650-49f5-84d7-98f2fbee54af CLINVAR:458537 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen acbd4075-751b-4578-8e11-94f90c24f698 CLINVAR:804214 biolink:causes MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen dc8ec639-f5ed-4dc3-b75d-146727513804 CLINVAR:804214 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c2621a33-96f4-44fa-936d-62ff3d683f25 CLINVAR:12366 biolink:causes MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7bd8bc3a-c58d-4c1e-b713-064a123f7b5b CLINVAR:12366 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b6060410-bd53-4a96-ad89-7c2391f522fe CLINVAR:12356 biolink:causes MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e9a3d24a-7b96-4222-9772-bfde9a09f38f CLINVAR:12356 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4a84e58d-857b-4da1-b32e-cd61bc25442b CLINVAR:182969 biolink:genetically_associated_with MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 051f3e37-9d19-41e2-9a97-95b1673b2fad CLINVAR:182969 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8a62306d-6592-4382-a0c7-0c35f36e1dad CLINVAR:376612 biolink:causes MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ed336dcf-bc64-4c38-8e44-5939afec5823 CLINVAR:376612 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen da1b9067-a4c7-4454-9828-4ab1a686f113 CLINVAR:102752 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5df99c73-9205-4ec3-8d5b-c0170522713e CLINVAR:102752 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 98f37020-6df4-4bc4-b336-35925873ce4b CAID:CA16020725 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8e3b5c1b-7faa-4c56-b5cc-6a142078662d CAID:CA16020725 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2a22c35a-867f-4a6f-9a74-a30e5df5d146 CAID:CA16020790 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 68e91af3-cc69-4e19-bbe3-7c944be81500 CAID:CA16020790 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 89d7aac4-d908-4c76-892c-d69e91936cd2 CLINVAR:619705 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 06ce7256-4378-4666-ac1f-5b6ed3234a98 CLINVAR:619705 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fa5c4a77-a800-406a-bdb5-e08048051304 CLINVAR:102684 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8f653a8a-a74f-4bd5-810d-5ed202d22cac CLINVAR:102684 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 32a9fbe9-27fe-420e-925a-ffbddb562850 CLINVAR:102662 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fa209cf4-0c5c-41c7-8ab5-2f6bd1d45fb8 CLINVAR:102662 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f664c2c2-9b3f-49fe-a09d-d9db85152113 CLINVAR:102722 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b93fa504-d28e-411c-bc9c-4e4dea1fb2ae CLINVAR:102722 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c67e0db0-a1d7-4178-9867-ae82d41d29d9 CLINVAR:286662 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7731ebc9-b818-4e59-9ad1-fb3044df2900 CLINVAR:286662 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7de0d273-9e7e-4603-9a3e-5ad9da093779 CLINVAR:422049 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 258da88e-a8c8-45c6-822a-812717ca987d CLINVAR:422049 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3eb25044-cff8-4a04-ba4d-746e4b440f5b CLINVAR:102916 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 984aab20-3e0c-4c80-8688-e1a2141c9126 CLINVAR:102916 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 15b94d77-e90a-4b50-92ac-cf3b0bb79f1e CAID:CA16020739 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c6aab5c6-ea45-4297-afa2-915408f42408 CAID:CA16020739 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9884208f-de64-4875-951e-cab9c8d53e30 CLINVAR:501777 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 208667d3-932b-443c-8c72-a6f742e62165 CLINVAR:501777 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e9f599ae-ac5f-49a5-a279-447fe9a65009 CLINVAR:526521 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 689ba046-f4f8-48c2-a433-5209d5f50bd8 CLINVAR:526521 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 970b4bb4-a751-4a92-9872-e4bcddbf1eec CLINVAR:286458 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 72a52859-a857-49e2-8b36-f034a32650c1 CLINVAR:286458 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2c86594c-35d2-4c2b-9d9a-6e94b3c3385d CLINVAR:283971 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4c3d56ec-a44b-4732-ba89-79a5642b78a8 CLINVAR:283971 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ebfd7ec8-7737-49e9-80be-11fdc0a757ca CLINVAR:288505 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c60023fc-9d6f-4e89-b1cd-55bf2dd7ada9 CLINVAR:288505 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 72c23545-6c57-48b0-8c12-2da03ee43c44 CLINVAR:188936 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f8290cf3-b60e-46e9-be82-cfe28ebb5692 CLINVAR:188936 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6480013e-65bd-4dfb-a9f5-eeed70a558ea CLINVAR:188904 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9759b3ac-14b0-45a2-97dc-76fdbb892da0 CLINVAR:188904 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 27032e7a-cd80-4957-b5f9-4fc0069ba689 CLINVAR:189025 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 790985e5-ccbe-4cfe-8d20-232dadf9f1b1 CLINVAR:189025 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 142bf781-f8af-4a39-a00f-4b82dbe64960 CLINVAR:189009 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0fd098c9-5c15-4410-922e-8e648d43f5db CLINVAR:189009 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aedcdd8c-06e0-447e-8497-d3433385ff7f CLINVAR:526535 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 76b5382e-fa69-4dca-a69d-0059060dc208 CLINVAR:526535 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ec0fe673-162d-4f15-b1ef-48b9b7d3ee09 CLINVAR:550713 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8124f8bb-0bbd-44b4-a168-1e9ee95ff61a CLINVAR:550713 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 660cb81f-5013-4b4f-b0b6-afd6123aaf32 CLINVAR:556985 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 41ba34e5-dac4-433d-85cc-e3ec7bec9d34 CLINVAR:556985 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7dd41e31-6ad6-4aec-80c4-bf8b698eda46 CLINVAR:932898 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8e24d081-6e94-4360-89f0-297d6e46d9d8 CLINVAR:932898 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen feab66c3-a771-4452-ae93-6b38606623a0 CLINVAR:932901 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 984c9cbd-497d-4c67-ac54-c1b744d2338c CLINVAR:932901 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5970aa97-d293-408f-846b-7ad6605d5df9 CAID:CA401361056 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 60a35d90-a818-4869-83a6-c04692f24a91 CAID:CA401361056 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d65101c9-2d45-43c5-80f9-b8d68aab44a3 CLINVAR:495665 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c9ed2fa3-a85b-427d-bb3d-933c2ddeed96 CLINVAR:495665 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5e714d42-bd6b-49f5-80b5-06ebfbb8ed80 CAID:CA658795235 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0d5bcebf-f9c0-4439-ae03-e10de0305c45 CAID:CA658795235 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fc27a891-fba5-4c33-9923-c4a6618c1adc CLINVAR:370357 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 412e2a62-2641-4f5c-b9a7-0bf7ab490241 CLINVAR:370357 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5e2fe43c-5c1a-4bd1-bf09-7435e3b0f497 CLINVAR:370124 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a717a5cf-dade-4f80-af14-5997b9688868 CLINVAR:370124 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d5302023-49d8-480c-906e-543a82483419 CLINVAR:189144 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 967b02bd-ddb9-42bd-ae22-5ecd79d69689 CLINVAR:189144 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7c1c07e5-53ec-4b14-88bb-e852ac903e8a CAID:CA401364293 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 933490a4-7265-461c-a4fc-f46ff639afdb CAID:CA401364293 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b10b585e-37b9-477a-a93a-6091dc8d64d9 CLINVAR:574052 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d9ec5af7-a1aa-461d-b079-09eb55d3ad25 CLINVAR:574052 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b36f8126-dcc4-4c55-9b75-0f210c121b89 CLINVAR:556975 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4cc242d5-a369-4a78-be56-83a658099fd3 CLINVAR:556975 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 82141af6-3410-4c91-9e27-5c303b6136fc CLINVAR:102894 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9bb94202-1677-4f3d-af2b-2734144dc88e CLINVAR:102894 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ddf13644-3c25-4120-833e-288800b33dcf CAID:CA16020887 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 477517f8-e845-41e2-b91a-86b5246432ea CAID:CA16020887 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3a2ec795-4ecf-4366-8f48-68a905147711 CLINVAR:13329 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3bc3770a-e918-4eee-8035-78c2aa74cef7 CLINVAR:13329 biolink:is_sequence_variant_of HGNC:9644 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f8c79229-d1e2-4843-b638-df5ac816180b CLINVAR:43568 biolink:associated_with_increased_likelihood_of MONDO:0010134 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9e304af4-5c54-48ae-b687-a1e2661b6a64 CLINVAR:43568 biolink:is_sequence_variant_of HGNC:8818 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a3763aec-978c-4c78-a8da-1b06676d8c1e CLINVAR:43495 biolink:causes MONDO:0010134 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4fffd3eb-41b2-4354-be07-594cd74358d5 CLINVAR:43495 biolink:is_sequence_variant_of HGNC:8818 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eb3188b8-02fb-4617-8d2e-b201a99e0542 CLINVAR:371781 biolink:causes MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d842200d-4f12-4e0f-9cd5-5da579aefd86 CLINVAR:371781 biolink:is_sequence_variant_of HGNC:4284 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 63921013-ddc6-48a6-b1b4-1676c099d284 CLINVAR:178283 biolink:genetically_associated_with MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7eb850de-76c1-46d1-ae24-5a797c48e8bb CLINVAR:178283 biolink:is_sequence_variant_of HGNC:7606 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e891bdc4-3ed8-4095-b213-247c9fcdc08a CLINVAR:92756 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3601a513-4dff-43a7-9e5d-03d3b4e4ea2c CLINVAR:92756 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 73b72668-20fb-43c5-ac4e-d85b49021e4a CLINVAR:265979 biolink:associated_with_increased_likelihood_of MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7bdb4454-f47a-4e46-ad0a-2a0caee89286 CLINVAR:265979 biolink:is_sequence_variant_of HGNC:12601 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b5c670a3-a521-4ce7-aa69-e920cd45128f CLINVAR:549981 biolink:causes MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 01d293b8-bfe0-4c20-9462-f995e6307fe2 CLINVAR:549981 biolink:is_sequence_variant_of HGNC:12601 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7c257b96-2f3f-490e-a81a-1849fbb8c51c CLINVAR:177844 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 21f0b7ed-2629-4482-982d-0578126fa8f5 CLINVAR:177844 biolink:is_sequence_variant_of HGNC:1097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 076e0f39-be6c-4418-949c-77a4afb470fb CLINVAR:13975 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 058bd9b2-b35c-4397-afb0-8993fbc7fd61 CLINVAR:13975 biolink:is_sequence_variant_of HGNC:1097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6aaff253-fe33-40ca-aa35-971fcf5c4e86 CLINVAR:40370 biolink:associated_with_increased_likelihood_of MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ce4f7ff5-3dfb-48ac-baf2-1996b139e593 CLINVAR:40370 biolink:is_sequence_variant_of HGNC:1097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 00e30641-f01a-4c60-819a-4fd284c9b7f2 CLINVAR:225136 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e1582b20-b193-45b4-8ea4-6a8681c6b849 CLINVAR:225136 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c0702d58-cf59-4c76-bea9-aca59d390b0c CAID:CA16020831 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 46828d00-3068-43ef-b124-a7af39e3c567 CAID:CA16020831 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a5e795c3-1046-420b-8a95-d91e90e7d816 CAID:CA16020832 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 49d49563-75bd-45a8-91b8-0f7f9c78b802 CAID:CA16020832 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9ee0d6c4-2b9f-42b1-a6fd-a869aa0c2763 CAID:CA6748883 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9fefbbca-13f4-4a52-9639-e866051b7445 CAID:CA6748883 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dcae7c08-13bd-4914-abf1-680a284cc76b CLINVAR:177876 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 260f4bb0-84c0-460b-a6d0-140caf7ac2cd CLINVAR:177876 biolink:is_sequence_variant_of HGNC:6842 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dc77dc0a-e719-4cd3-803a-3f3f2cadb940 CLINVAR:41443 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ab15a8fc-1b2a-4d6d-87e0-f3feaba58462 CLINVAR:41443 biolink:is_sequence_variant_of HGNC:9644 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6324b569-7db0-4384-9359-c9b9e5758fc0 CLINVAR:13964 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e23a95dd-fafd-40d7-9cee-af1107eb64a8 CLINVAR:13964 biolink:is_sequence_variant_of HGNC:1097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 19f939ec-abe0-4235-8e93-c5d86431dcd4 CLINVAR:561347 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 18afa50c-dfaa-4852-87bd-e530a12d83ee CLINVAR:561347 biolink:is_sequence_variant_of HGNC:11187 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3304a527-ae78-4148-befa-efc4afc1bf76 CLINVAR:222774 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen dc3b8749-d9ff-4ff6-842e-457e84114d58 CLINVAR:222774 biolink:is_sequence_variant_of HGNC:9829 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 28d8cdec-d1ab-44af-9e71-a80d84a770cd CLINVAR:477722 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 33c1e780-4158-4dfb-b3d6-88304b403075 CLINVAR:477722 biolink:is_sequence_variant_of HGNC:11187 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1d6969ed-1a63-454b-9cbb-34edb5340491 CLINVAR:359048 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen af1cb9d3-d320-4e40-887e-235fa44db3cf CLINVAR:359048 biolink:is_sequence_variant_of HGNC:1097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 24fb9502-bfab-4e86-bd06-50b5509714b1 CLINVAR:40654 biolink:causes MONDO:0018997 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 25f6b36f-04f5-4abf-b5fa-e356ee5d001f CLINVAR:40654 biolink:is_sequence_variant_of HGNC:11187 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2e51d581-507b-443b-a97a-1ce5091d1216 CAID:CA16020836 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 171ad49b-2313-4a23-a9bd-71f886c500cd CAID:CA16020836 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0d04d168-3a25-45e8-b4b9-848cc4c68748 CAID:CA16020854 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3388b903-da5b-4015-b36b-1a9e9b763f6f CAID:CA16020854 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen db9d8b8b-0fa3-4c1e-a1da-8486215caee5 CAID:CA16020922 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 05cd2e74-0666-4dd1-b420-3a47819cbd5b CAID:CA16020922 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a42a61c5-13dd-4daa-99cd-05cd597ec141 CLINVAR:228282 biolink:associated_with_increased_likelihood_of MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3268b489-0855-4187-a924-957ebd648ee3 CLINVAR:228282 biolink:is_sequence_variant_of HGNC:7606 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fcd46683-7cb4-48cb-80d9-a52f377f3a3a CLINVAR:229012 biolink:genetically_associated_with MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d872c357-16dc-4b12-8f0a-42bd5eb1a281 CLINVAR:229012 biolink:is_sequence_variant_of HGNC:7606 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 383e3703-8f3c-49a9-bb2b-e9a492655dc8 CLINVAR:43185 biolink:genetically_associated_with MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen be449f93-5b3b-4574-917d-f661e4295cbc CLINVAR:43185 biolink:is_sequence_variant_of HGNC:7606 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c5ec741e-d59e-49aa-bcb4-b68858a74339 CLINVAR:569590 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 02194bd8-a246-40cb-9ed7-89cb0f9479fd CLINVAR:569590 biolink:is_sequence_variant_of HGNC:6842 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 98cd3e7f-74a6-4edf-8be9-865958e883c9 CLINVAR:181553 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ce66095c-d46e-4503-b4aa-be1656de8569 CLINVAR:181553 biolink:is_sequence_variant_of HGNC:11187 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 801e5ecc-cf56-4fa6-9e90-e5096bed461e CLINVAR:561935 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8b2bf9aa-a33a-4e7b-a9b5-23b671e914ff CLINVAR:561935 biolink:is_sequence_variant_of HGNC:11187 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7b34d6c9-7f72-4a54-a1ef-30e5c2c8383d CLINVAR:228273 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 80cea65e-936c-403e-8b11-664c78d1c96b CLINVAR:228273 biolink:is_sequence_variant_of HGNC:6840 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bbd64d28-c5f6-4e3c-bf13-195776aa4e71 CLINVAR:40388 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 90e3abed-2077-4e1c-b0ec-86cea1d7372d CLINVAR:40388 biolink:is_sequence_variant_of HGNC:1097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen adb5312b-fa56-4045-9596-5adcd0dbc9e6 CLINVAR:280033 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen bb9c2fb1-afe3-4023-838d-2c14bd7debe3 CLINVAR:280033 biolink:is_sequence_variant_of HGNC:1097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 37253b43-7186-4a4a-8eb2-38b202096327 CLINVAR:280939 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6c22ff7d-be89-4c42-a80f-4b1c76f1109c CLINVAR:280939 biolink:is_sequence_variant_of HGNC:9644 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9631a386-70e6-45af-9218-1f9d1c6d5c7b CLINVAR:575203 biolink:associated_with_increased_likelihood_of MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 401471f4-3531-4754-a30f-77d4e29d185d CLINVAR:575203 biolink:is_sequence_variant_of HGNC:9644 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0621e35c-7ced-4d68-abd5-9c4cb8e6e9e5 CLINVAR:427613 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1a4cc24e-50ae-4906-84da-ddb59a90b132 CLINVAR:427613 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ea7b63b5-d185-4a7c-b577-086cd66b6fa0 CLINVAR:427621 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 13579ffd-526d-41e4-bf95-095596947401 CLINVAR:427621 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 27e959f0-4412-4b59-935b-957e3b540620 CLINVAR:427619 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f11d542b-2055-4f4c-8085-30316c69a53b CLINVAR:427619 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dbd57d02-831a-4208-b68a-76e753f9bd59 CLINVAR:449089 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a9564556-3a0e-48ff-96c1-81910c19d7f1 CLINVAR:449089 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d4235c99-a6e0-4466-9a33-f7f3e937d05e CLINVAR:142088 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 49118caa-c5db-4427-b1b0-39843d499aee CLINVAR:142088 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 50da18e1-07dc-4c25-9b16-cfa4a76e4d58 CLINVAR:301423 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen bfaeb71b-9266-41a2-bfa4-656b17dbaf4e CLINVAR:301423 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3089a447-b3b3-41e3-9838-bba4a70f729a CLINVAR:428268 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e1095224-18c7-4e15-a66e-0a32260f51b3 CLINVAR:428268 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1b5342cb-0ef1-46f0-b7b9-64eee8a86011 CLINVAR:189414 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1a4549b8-73c6-486a-b83c-8e25c80102ca CLINVAR:189414 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen afc9e1f3-caab-4895-bf43-58c49104d00d CAID:CA16020943 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2d36051b-6458-4dd7-8b79-87c507d9e55f CAID:CA16020943 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen be4e295c-1af5-4072-ac61-4f14d0fe4055 CLINVAR:102583 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d2972c45-e6dc-46c3-bc5c-379cf59f8403 CLINVAR:102583 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 20071cbc-b4dd-4c30-8333-144d92cb59f5 CLINVAR:102922 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2f903caa-973d-4911-a162-2ae7e4b98f11 CLINVAR:102922 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f1ec413c-59f0-4fc1-9557-dddae872165a CLINVAR:102879 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ef7fcf6d-f689-47c4-b863-fc765b4edbea CLINVAR:102879 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0b434b24-3027-4653-8e03-0aa7c87321be CLINVAR:556894 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a9574310-4595-4266-b56d-396815a99fe2 CLINVAR:556894 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7973b3fc-1513-4793-be73-96c4e67aec6e CLINVAR:102852 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen dfeb9d83-793b-4594-b35a-dec4cd8df017 CLINVAR:102852 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 59d1e29e-530c-4827-b1cc-6a4f1ebbe7d6 CLINVAR:102782 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 45f1fc35-d76e-42af-9679-834edf4b2da2 CLINVAR:102782 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 17537571-ad97-40e3-9b6c-e9b2704d7f25 CLINVAR:625290 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen bc4bc7f7-58ed-4e8f-8df8-f8f077a421f6 CLINVAR:625290 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b80cf51b-5263-4ec6-9901-c75f0bd62be9 CLINVAR:625286 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 56b97c11-d901-47da-af20-1558a40d3801 CLINVAR:625286 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b08adc24-2cec-41cd-a849-08253f1db458 CLINVAR:625287 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f6d56d45-e177-4d06-9546-403ce30275ac CLINVAR:625287 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6be8068a-ac5f-4ece-8e29-23b97916966a CLINVAR:553851 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5786a7c4-d867-4cba-bdb7-6d6edc381fbf CLINVAR:553851 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 72b98f35-cfaa-4eb9-a2bf-d684ff41ceeb CLINVAR:102618 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f3bd1865-fd07-4e4b-8d38-4adefa58f2d4 CLINVAR:102618 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c217cab7-18af-4402-8463-ce120e151b4f CLINVAR:625291 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d92fb5b1-46f8-41c4-b2dc-1966d8a6c995 CLINVAR:625291 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d3e465b9-66dd-4445-b7e0-606fa2d0d598 CLINVAR:120257 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8d26ff7d-b987-4844-a1b7-1dc232cf1cd9 CLINVAR:120257 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4ba86b37-cd45-4236-a0e1-50810e8de5cc CLINVAR:120261 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 71675296-0f84-481d-9824-88ac23474220 CLINVAR:120261 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b5d1b9d5-c2c0-41a8-b278-2ccfa392b5a8 CLINVAR:102921 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 55e0b17d-a1d7-4880-b350-6e15b08137ac CLINVAR:102921 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c0cc0e3d-146f-4bab-ba1a-944748711636 CLINVAR:579 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 85b1d1be-5044-4880-b969-45b3318edeec CLINVAR:579 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9dd05fe4-e5e3-4f21-90e9-761c9f101996 CAID:CA16020912 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c3aa2033-842c-4952-8b07-23e6e31669f7 CAID:CA16020912 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6cde8396-4e50-4e82-939b-3773bc462a8d CLINVAR:102491 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9bbdeaf1-e5d4-4a1d-9c59-f42f43b17839 CLINVAR:102491 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ea84ddf0-c45c-415a-8826-3b088af27b0b CLINVAR:102763 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2921497c-02b5-4bc5-b277-b389d347d151 CLINVAR:102763 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 429e8ee0-7c0d-4a7a-871f-fc1758b66fba CLINVAR:614 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a4f2846b-5e73-43a2-bc45-a58b1e29d6b6 CLINVAR:614 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fa713ab8-faeb-4a25-a149-5a00760ec17a CLINVAR:625288 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 98264ae1-d961-4f94-b9b1-7fe07b81f98f CLINVAR:625288 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b4fb13b9-36e3-4332-b635-cdef31398bd6 CLINVAR:635217 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 927bad70-1bff-446b-a626-8653267ac3da CLINVAR:635217 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d74aa7f7-2116-462e-b7f4-3a19e8352a74 CAID:CA16020992 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ae1e4be3-0988-43b7-9fc1-10a79434efe6 CAID:CA16020992 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b4b0b6a7-dfd9-406d-ad36-8d535762dce6 CLINVAR:449488 biolink:genetically_associated_with MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen da47e171-7202-4cbe-a1d4-6b56522d8c53 CLINVAR:449488 biolink:is_sequence_variant_of HGNC:4284 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5263909d-a20e-41c8-8229-5531af77587d CLINVAR:224749 biolink:associated_with_increased_likelihood_of MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen efadfd82-f875-425a-ba01-ab0b2a3808ec CLINVAR:224749 biolink:is_sequence_variant_of HGNC:7606 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9df1b318-c76a-49c2-9ede-f63acaf85281 CLINVAR:102758 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 99a6b244-e19d-4347-9164-e93bb3c0bab4 CLINVAR:102758 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ce25e791-d832-492c-9c40-6f3e54f1cc7b CAID:CA16020953 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 41f25743-f05e-4690-8a44-63e0fd6b40f6 CAID:CA16020953 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 202a9d65-71da-4ee0-ad20-0b093f2426b1 CAID:CA16020757 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a0da4d4e-7f3c-4ec5-adca-67cf8ce69e28 CAID:CA16020757 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6b561e8d-432d-46f6-8aec-c673d1f33efa CLINVAR:102656 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 47e8a408-a44f-403d-9d2e-0c130200b730 CLINVAR:102656 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 854297c4-d029-483b-8818-1634e11e1ba9 CLINVAR:665198 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen fd085799-4d8e-4205-b2b8-8c8a93d71aa7 CLINVAR:665198 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 522c9bf2-ae92-45aa-bf87-2247eeb401e5 CLINVAR:102806 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ff9c0671-3b78-487b-a365-7055d2b1f822 CLINVAR:102806 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8651394a-0e81-47d3-8e04-0d2e42bafde1 CLINVAR:102793 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 66a95b1c-8de0-45a5-a5a3-fe06de2e7c95 CLINVAR:102793 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f5f88479-172e-4cc7-82c3-0a58aaf5bb66 CAID:CA16020859 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 793d6e13-d66d-4087-b57e-c971a0f1ccf2 CAID:CA16020859 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 12fb1c5a-2bcd-4797-a87d-b4e7ed79211f CLINVAR:102509 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen dad1630d-805f-4719-943b-bf25ed31fb02 CLINVAR:102509 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ff95c57c-7e7d-444c-b207-e86bd3c4b22b CAID:CA16020946 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 61d4de4e-41e2-4094-a6e2-3c6fa3fadc76 CAID:CA16020946 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e2714413-7bac-40e9-8315-4b8cbc28b9bb CLINVAR:43325 biolink:causes MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3627198e-6788-468a-90ba-cb79c341661b CLINVAR:43325 biolink:is_sequence_variant_of HGNC:7606 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ad16ee6b-24cb-44b4-8293-7d75605fe41f CAID:CA16020803 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 76e02871-f436-438c-8c2e-72637a112784 CAID:CA16020803 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 58e25392-cea8-4ca0-883f-bdca515a8e86 CAID:CA16020971 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8f967ada-8cb3-4673-baa7-8816e93947ac CAID:CA16020971 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b22f0bc9-1f9a-4c0f-b3d1-fc6d7a824ce9 CLINVAR:102576 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 33afba82-6200-423c-a56d-4e88244610dc CLINVAR:102576 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6def297e-335a-4a07-ba59-588a886b614b CLINVAR:102707 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 58f5b6c8-e331-41ae-837d-18fb5e273437 CLINVAR:102707 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 371408e7-3fce-4cfc-b139-5206c2e59ad4 CLINVAR:102535 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen adb83f19-eaf1-4a59-8040-38e6a3868fe7 CLINVAR:102535 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 43f6bdc8-96ba-42a6-a554-a52097e44a24 CLINVAR:283894 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 706527da-2819-48f2-9fb7-75f44a04521d CLINVAR:283894 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bf266915-c6bb-4751-830d-5c8681dcafaa CLINVAR:556334 biolink:genetically_associated_with MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0ab86866-80dc-4a46-82df-ff07f1f02f4f CLINVAR:556334 biolink:is_sequence_variant_of HGNC:12601 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0f2943c1-c52a-4f82-8435-3a1b9d9dc962 CLINVAR:556881 biolink:genetically_associated_with MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8a02225f-9d72-434c-8b1b-df1aac344bfb CLINVAR:556881 biolink:is_sequence_variant_of HGNC:7606 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 20007fa1-b03c-425e-8607-db82b8a07643 CLINVAR:196099 biolink:genetically_associated_with MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f0b43978-edec-42d2-90e6-7070cf59118f CLINVAR:196099 biolink:is_sequence_variant_of HGNC:7606 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 071f5b66-07d8-4d89-b536-525ae3442fbb CLINVAR:44633 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9dbfffe4-bba5-46df-bcb2-15d3b833cae4 CLINVAR:44633 biolink:is_sequence_variant_of HGNC:9829 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b9b6ff08-30a5-4615-acd8-6d4c9ece4d70 CLINVAR:438796 biolink:associated_with_increased_likelihood_of MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 09c6d8f8-dbe0-4bfd-a52e-b7627e6aaf27 CLINVAR:438796 biolink:is_sequence_variant_of HGNC:6407 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5387439f-c992-4fd0-ac67-26416dc4ab7d CLINVAR:167260 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 95db9c67-2471-41a1-8e27-9e7cc54e15aa CLINVAR:167260 biolink:is_sequence_variant_of HGNC:6840 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6af08fff-f459-4e39-b352-d2c457a1f958 CLINVAR:375946 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 89c66610-dbf5-4f15-8290-b90023c58d1c CLINVAR:375946 biolink:is_sequence_variant_of HGNC:1097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ec84102d-034c-477f-8894-470155f13046 CAID:CA6748704 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ba196692-d014-468b-81b4-7fcb1c36b6c5 CAID:CA6748704 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 62a58c6f-6e71-4dba-8f54-3ff557e53f14 CLINVAR:630 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ea8a73eb-863a-41d6-b82d-d18551c2a43f CLINVAR:630 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 248b5653-1cf9-4afe-945e-3cd7738d3678 CLINVAR:609 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c468e4a3-bba5-4cf5-a17c-9199ead68b73 CLINVAR:609 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b0fa23dc-4325-421a-9ad2-842b9e502d84 CLINVAR:621 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e9fa16af-2196-419a-b44a-f211e783d2bb CLINVAR:621 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 610d17f5-ab8b-4adc-b919-26a7b8d252bf CLINVAR:224753 biolink:genetically_associated_with MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 523133e8-99bf-4a99-a364-6414721ec55a CLINVAR:224753 biolink:is_sequence_variant_of HGNC:12601 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3ce35014-5338-49f2-bcde-34926fffeb13 CLINVAR:166479 biolink:genetically_associated_with MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5f5c88e0-590f-407e-b349-d5311dceb325 CLINVAR:166479 biolink:is_sequence_variant_of HGNC:12601 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9390f62e-fcf6-4d40-840a-7e84e3ddd8ae CLINVAR:178685 biolink:genetically_associated_with MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c6ae3e30-ecac-4ec7-a713-a53e34c9b624 CLINVAR:178685 biolink:is_sequence_variant_of HGNC:13733 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4645e38a-ae32-4ee2-890b-69ce09239f06 CLINVAR:932902 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 38c20e34-3772-4311-aeda-0ff615988141 CLINVAR:932902 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 50564862-7b4f-446d-979f-f65a2da9fa4d CLINVAR:371235 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6eb8133b-b217-40a4-8070-ea40894d3836 CLINVAR:371235 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 22df8295-f3a1-4563-addb-1c83cad36a76 CAID:CA294887189 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 14b57987-398b-4ace-a86d-61bcdd19aea1 CAID:CA294887189 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5c171ee9-1430-453b-9b91-1f9fb0c592dc CLINVAR:188841 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1887f70a-5e3a-478b-8833-cee3f6c997fd CLINVAR:188841 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 94d51f75-5714-40d8-a941-e893d116a9bd CLINVAR:370651 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen cff704e7-14f7-4911-88d6-81745601a3f4 CLINVAR:370651 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eb104f2b-eb8f-4a96-8ec4-1842e49e9ac7 CLINVAR:189065 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b782d2ad-8d52-4595-8885-0f68537fe48a CLINVAR:189065 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0ed95d02-343f-402c-bd1a-4bcd39a950f5 CLINVAR:550355 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c6856f82-883e-4b1d-ac24-47858869308b CLINVAR:550355 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4d680440-34a8-4050-9100-882161994683 CLINVAR:578595 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 741b9e7b-ca17-43bc-b832-8ff582224ca3 CLINVAR:578595 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen df47f763-0ae3-464b-9cc7-4da547dead22 CLINVAR:560377 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 75cfb406-e940-49df-90d3-a0f7e63f9e2b CLINVAR:560377 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ffba0c9a-3cda-4cfd-9656-602a0106981b CLINVAR:654482 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 03af409d-5cac-4fb7-86bb-871ac475f8bf CLINVAR:654482 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 79472909-a6eb-4e7c-9c31-67941a040f8b CLINVAR:637958 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c93ef555-de8d-46af-8c5f-320e30047731 CLINVAR:637958 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 13a2069d-1b27-464b-8dd1-275924e12297 CLINVAR:188858 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6dd871a6-7c1f-461a-804e-983025c7b54a CLINVAR:188858 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen adbe8c7b-4d3e-4698-9aeb-16ac56c81129 CLINVAR:663894 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e31d5a62-9559-4853-8068-e40390dbef9f CLINVAR:663894 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d9afe41f-968e-4274-93b2-4058e547dbe1 CLINVAR:372968 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen af85f7aa-4809-48f9-8285-72258c978d17 CLINVAR:372968 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a510050f-6908-4b1c-9d3d-3d6b8254cdd2 CLINVAR:370268 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2ef1e5d0-0a8f-49f3-b4e8-9c94ce24181d CLINVAR:370268 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 12ca969b-3a03-4743-b342-a11fa2e46f7d CLINVAR:649354 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b8035890-c069-4224-aa67-629be0032ac9 CLINVAR:649354 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d3caf2c9-b910-48da-8bd9-3d253920aa85 CLINVAR:552368 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1dca5968-8d42-4c00-8f09-30d85493b79c CLINVAR:552368 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 121e5b0e-9db1-41a7-be05-955622279fd9 CLINVAR:92479 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 53e7ff2c-e950-4a80-9b64-48718005c89f CLINVAR:92479 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 370ee4f9-6cd8-4529-9f1e-86de8088811d CLINVAR:286229 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8ea32a73-cff3-4f6d-b8ae-4c05bf47483b CLINVAR:286229 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 75b492ea-db77-4334-8889-81f75c78eea1 CLINVAR:280063 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 293a70fb-0212-41ab-931c-1ac625aad7ed CLINVAR:280063 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 99e4ec0e-89ea-449c-9f2a-d1fc4eec7c99 CLINVAR:370904 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 51706a1e-39da-41f4-bb5e-bb6cdb51de83 CLINVAR:370904 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2e3bb153-ff5a-4c22-aba6-593677704565 CLINVAR:429727 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 936a9e64-ace5-4c2a-ac9c-e9737060a139 CLINVAR:429727 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 68608216-320f-4ed2-b9e6-51e562527864 CLINVAR:4034 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 071f8826-bbce-40d7-85a0-026917169559 CLINVAR:4034 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 794a447a-7d7c-4597-8bad-dbdf5955feb1 CAID:CA8815306 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9e40cfa9-418a-475c-9859-2b80af886ab5 CAID:CA8815306 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2f459620-4494-4341-af16-2cbe0b98a9c3 CLINVAR:556265 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9269fb9f-5dfb-42ea-8c15-7256f22b3b52 CLINVAR:556265 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dd14ed38-e7c5-42ae-b670-7ae0a6ccb4dd CAID:CA294896907 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f1ef6412-ef65-4866-8e99-87e20d5b25af CAID:CA294896907 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 05032f29-44fc-4968-a651-cf13df32fcfb CAID:CA913184909 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen dfe7a0e2-25a2-4c72-8bef-408f57678d39 CAID:CA913184909 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c863a371-2434-443b-a9ec-48d17041f419 CLINVAR:188728 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b679032e-783e-41d0-bce4-a71b60dcf7a2 CLINVAR:188728 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8f0b8578-df4d-4d0b-9c2e-1651e15e2191 CLINVAR:426593 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b57b180f-4974-4a20-989f-89004183ec17 CLINVAR:426593 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2853d6f1-4e23-46fe-bc86-b25324479d53 CLINVAR:188797 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 81f20e41-f1bf-47c9-af08-f3a5f599abc8 CLINVAR:188797 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 63534da7-f09e-4b1a-9e78-923451f0ab5b CLINVAR:284093 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ece47916-2ffa-4922-8ed4-ae132f3cf6f1 CLINVAR:284093 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e2bd17e9-3161-4fde-bcaf-dde25a887aaa CLINVAR:379593 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen fe501856-3e82-4a4d-bfaa-d493edfda4bb CLINVAR:379593 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b9f516b0-d796-4d5c-ba7f-90a16fafd362 CLINVAR:279811 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen bac4e3f3-28da-478b-a883-4c777bad3267 CLINVAR:279811 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 661657f0-59a0-49b5-bebc-1eeccc21b582 CLINVAR:188902 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen cb7b5777-ca13-403a-bbee-cdb2c68b9c2c CLINVAR:188902 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3ff6dd82-260c-446d-85b4-9a21be871f3a CLINVAR:188924 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0a396f49-99c5-4722-9e11-c13c88c75cc3 CLINVAR:188924 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 17667ccb-ba96-43dc-8769-d0f153bd72c8 CAID:CA658795262 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8f9c037d-3821-411f-818c-6553f0620c0e CAID:CA658795262 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6c54aa1f-7b53-473e-8737-c831c280c959 CAID:CA913187393 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c267245c-fa9e-40a4-8fc1-437521ceecac CAID:CA913187393 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dbc35b4a-138a-4bee-9699-0309408627fe CLINVAR:188903 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d9c17a18-141b-44b0-9324-7e1b2af31b67 CLINVAR:188903 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a9f31cf4-b621-4723-a39d-f6d5d689273c CLINVAR:499380 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 54883281-1bf2-4e7d-a573-f1592cae86f0 CLINVAR:499380 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 78aff08e-1d08-488b-a9c9-4be2b82ec7b1 CLINVAR:189184 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0f3199f4-3d2d-43b9-bc00-f7e0ab6e6261 CLINVAR:189184 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 287b6cd5-ad37-414c-a41f-bd126cb20de6 CLINVAR:189188 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen fdd4b602-b483-46be-b0c1-245ca61a62c2 CLINVAR:189188 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5a487961-80f5-47b3-8986-134adf712f78 CLINVAR:102788 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f28bfeb0-fafc-4442-aedd-67cf33f36ad7 CLINVAR:102788 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ec5900e2-391b-470b-87ca-71071ace6479 CAID:CA16020973 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f7180bf1-5953-4e81-bea8-ebc5b0b7a50f CAID:CA16020973 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eeeb68e1-576f-40bb-91b8-44774d3f54e6 CLINVAR:102569 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 45cd74ed-4261-4099-9d50-675a0cecb021 CLINVAR:102569 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2613b595-5c82-46bb-a58f-678fa1b368f1 CLINVAR:102759 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 405e5f44-e036-405a-9d7b-8eafe48f6f16 CLINVAR:102759 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 50eeb491-b261-4511-9909-bd335d872947 CLINVAR:102476 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 974176eb-1955-4a01-91c4-5b98fd2e7499 CLINVAR:102476 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6cfb2d0d-975f-4d0f-8430-b646f0b8545f CLINVAR:561221 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen adfaf534-7137-4574-8bd6-da80fe6e8f67 CLINVAR:561221 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3d8f01cf-c2f5-4ed2-a118-97a2aa31aeba CLINVAR:561228 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 96d69240-7b45-462c-8863-e8afd82a9b01 CLINVAR:561228 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ac948c8a-5c89-4215-bb8e-028a290aa028 CLINVAR:532681 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen dcc9198b-be19-4372-9760-e0632d1f0568 CLINVAR:532681 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 06a8bfd7-ce86-409d-ad70-b716516dc07f CLINVAR:561230 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4fe4d7d1-2c27-4ac4-9921-7d989b866145 CLINVAR:561230 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a861286c-2b9d-4bc4-a47c-3c58b389658d CLINVAR:561242 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen cc81a0b1-f08f-49e7-8204-3909a8dca90e CLINVAR:561242 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 75b17cea-8792-4ebb-bf72-bbf765c1d8b5 CLINVAR:642956 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5271188a-99b4-4960-9dc1-68cc28039b11 CLINVAR:642956 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 84af12e5-cd7a-4c05-a3ff-7fe7cb8fc0dc CLINVAR:464001 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 86de9499-b3e6-4eee-8dd0-b0060e92e86c CLINVAR:464001 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b3a84349-b734-4753-9073-c1c0347344e1 CLINVAR:561255 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1c475183-fe4c-4730-8a05-c144bdcdfca2 CLINVAR:561255 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 077f2a32-fed7-47d2-99d5-c135dae7d8ff CLINVAR:581331 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ab123e6a-4af6-4c97-99c8-f3ac3b241528 CLINVAR:581331 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6631510e-b5dc-49c4-a8ea-9d4d9ae3ed7d CLINVAR:572808 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d10e45d6-026c-4434-9a85-764462102409 CLINVAR:572808 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen af27a51e-c49b-4eef-9014-0dfc721d9f59 CLINVAR:370276 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a758f17d-aafd-4575-9243-641e23186e26 CLINVAR:370276 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dfbc207d-a13c-4d74-a449-d7f1bb4416ab CLINVAR:188996 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e1843208-329b-405d-8882-1c4bf597bfbb CLINVAR:188996 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 33d1f28a-aae2-4497-a684-a7621345a5c5 CLINVAR:553894 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6d3d4951-2004-43ed-8e7a-d13ecb1a75ee CLINVAR:553894 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b595bb4c-5dd2-44de-b2bc-ceb05b79577a CLINVAR:595469 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5384c77a-619b-481b-9898-ab8e3911e606 CLINVAR:595469 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e9be6131-86a4-4d83-83dc-bc72025f2805 CLINVAR:593486 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 27c44d24-c2e9-4513-9c8b-61aa964ad5e6 CLINVAR:593486 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b6313240-47cb-410d-ae83-0a36c124545e CLINVAR:183727 biolink:causes MONDO:0100488 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a4f53784-7eab-43c9-9104-48bd4ff875c6 CLINVAR:183727 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3b9248a7-3881-4eab-b332-5a9b2efa59d5 CLINVAR:491537 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c5127dc5-49de-4c91-8a3f-64c53dc071f7 CLINVAR:491537 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eb3e4bb2-c10c-40bf-9a4f-42f9359cbab5 CLINVAR:421431 biolink:genetically_associated_with MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 43ab1bc1-c635-40d8-81f8-0a3b72985140 CLINVAR:421431 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7b53b5ae-9a5c-4780-ad05-c9ecb6500fb8 CLINVAR:406652 biolink:associated_with_increased_likelihood_of MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f4ca0446-bb61-4d7f-84fa-b128191a587e CLINVAR:406652 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1fcc2873-ac79-4df5-8395-b95345974feb CLINVAR:449922 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 141d20ae-6338-4bce-8eee-e253caacaade CLINVAR:449922 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b9f7b7df-4abd-40b0-9973-24ca750e6eab CLINVAR:532473 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 32e61f01-524b-4e6e-9dfd-8c8520fa3b48 CLINVAR:532473 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 213242ad-1e78-4857-b2f6-b4ab430f7400 CLINVAR:428623 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f5ddf771-c6aa-4f80-b2b2-8150e827f294 CLINVAR:428623 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a34bcd7a-5bbc-40cd-b88e-9ffbd4ad20c8 CLINVAR:186267 biolink:associated_with_increased_likelihood_of MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1d973dca-8b92-4b19-a8ef-cd59f3cf23f5 CLINVAR:186267 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b0ebbf1b-3c23-4092-9a5a-b2affcedc12c CLINVAR:545807 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b4e5fa70-609f-4e4b-b6a5-e47f6da39b55 CLINVAR:545807 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 07ba65d8-5d7f-4442-b03b-4c5ce482534c CLINVAR:265543 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen fa7a669b-afb2-41ff-9c9b-32e897493fc6 CLINVAR:265543 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 20e85ced-1813-4ad5-bd74-f25aff494b18 CLINVAR:483271 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3341572d-7246-4177-aa83-8d6928600e22 CLINVAR:483271 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 27a31d07-c240-4b76-a892-a66dc68c9fca CLINVAR:485481 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 17c30e03-ba7b-4ad3-8d69-7287d5a3fdce CLINVAR:485481 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 11be98af-9914-404d-b51f-25a24cd60e1f CLINVAR:428621 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen da5ef0a3-4094-4b12-97b7-55f69d1dbdb5 CLINVAR:428621 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7668df10-900f-441e-934b-1820145a3f3f CLINVAR:479518 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 00781e5e-997b-472b-b8f6-5be40d6a1ed1 CLINVAR:479518 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0292dbcb-7028-4fb8-8735-f85af2da9e47 CLINVAR:265511 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f4b9861a-676c-490c-9918-a68b5a02c2ca CLINVAR:265511 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 14d80e89-68dd-4ec9-8466-6cc907f1eaf6 CLINVAR:216589 biolink:genetically_associated_with MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 85efdf79-9a3f-4322-a790-2bab3c65e249 CLINVAR:216589 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b199fbb6-6d29-4e7c-8437-a99e08185be6 CLINVAR:142826 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e2cdeecb-fb5d-4b02-91e2-c8ee6405af52 CLINVAR:142826 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ca6651de-f76f-429b-9a5b-679e92562464 CLINVAR:463735 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ba9dcac2-510b-42d1-a703-b392ea7ab6ad CLINVAR:463735 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 771c17fa-cdba-4feb-b07e-e42332a0d31f CLINVAR:12237 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9931923f-bd0a-4372-856c-f9f26ecba1a2 CLINVAR:12237 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ee6fdaab-71c1-4ca7-aff4-51b6650da6cb CLINVAR:136065 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6cea7b26-9955-44e9-829d-1531ec02fc93 CLINVAR:136065 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 667fb391-73da-49f0-ab4c-08e7dc1e7acd CLINVAR:479524 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d51c956c-b548-4de0-93ed-b2927c587a34 CLINVAR:479524 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bb0c6560-15e3-4b5a-a0bb-cb632c89b3a9 CLINVAR:423041 biolink:genetically_associated_with MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5b00fa95-4ca8-4b7f-bd6a-37c1326a1158 CLINVAR:423041 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b53b8827-01f7-469c-8620-9244b5f5e6a3 CLINVAR:406654 biolink:genetically_associated_with MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 48a471bc-d69f-4141-859b-c9a3ce0f7e1b CLINVAR:406654 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 80d7c2b0-e5a8-49aa-a30d-20c8da3629f8 CLINVAR:481011 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c6053b07-5a8e-43b9-88b9-cb8b14faeee4 CLINVAR:481011 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9805fe0c-afe3-4429-a1ae-b893f2b66294 CLINVAR:428631 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 161c5820-8cd7-4208-8098-647dd439b958 CLINVAR:428631 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e32a7593-8e01-4b40-bc1e-769e6c56c050 CLINVAR:406633 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 48d75890-cc2e-4bb6-b926-9bb770924e5b CLINVAR:406633 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1ee057de-f55f-4e6e-8ba2-d5e1333eeccc CLINVAR:418111 biolink:genetically_associated_with MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2af79d05-7c85-4ae1-9b98-316ab6d34e94 CLINVAR:418111 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d38f8349-2d97-4f51-a384-a3884218be8a CLINVAR:428632 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c75c1e9b-4421-44ec-9979-d40f63962434 CLINVAR:428632 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fd316a96-564f-4479-967a-e8ddc2edd805 CAID:CA16020723 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b9a78ae0-e046-460c-8f17-f878876da3a5 CAID:CA16020723 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4fc91e23-95eb-47ed-82b7-2f3a1e02cece CLINVAR:102514 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 412ba8d8-9492-46e8-985f-12345083ef3b CLINVAR:102514 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9ea4c399-635e-4d10-9064-8452df3bb2cb CLINVAR:21389 biolink:causes MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 712ac3b0-59d1-4cd3-a5f2-03f9a0c39248 CLINVAR:21389 biolink:is_sequence_variant_of HGNC:4284 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c648cf4b-3223-49b8-9a92-4700ef263609 CAID:CA16020867 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4a2796ef-7efe-4526-ab98-9f965ecc1687 CAID:CA16020867 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ab86b753-922f-4796-a47c-78518870ba85 CAID:CA16020880 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ff11e84e-f827-4903-b2ba-1ce8631507e6 CAID:CA16020880 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8e850d93-097f-4aa3-8b1f-6fcb80e747d6 CAID:CA16020919 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c93ae367-2c7e-461e-b309-4cb7f6bf22fe CAID:CA16020919 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7c8aaf39-f52d-4a0c-8aa3-35514e1e113a CAID:CA16020945 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4c6d3440-0738-43ee-8474-75b7d4ecdf27 CAID:CA16020945 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f36e2742-3686-4456-9825-604812eaa69a CLINVAR:553594 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2162b401-15fa-4a55-a4b5-b172576e1aa6 CLINVAR:553594 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cba48fb8-80c9-4968-89a7-d97b2af937ee CLINVAR:164664 biolink:associated_with_increased_likelihood_of MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen cdc81205-a6a6-4215-bc08-131c00bffb01 CLINVAR:164664 biolink:is_sequence_variant_of HGNC:7606 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dc5f8267-5bdb-48e1-afe8-11d49c6c1aba CLINVAR:561500 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5774ad43-1a04-4954-985b-62e489998304 CLINVAR:561500 biolink:is_sequence_variant_of HGNC:9644 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 36f94d0d-fcbd-42c7-b07d-2ec25e49f026 CLINVAR:40389 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 089f99b3-e473-4b3d-bb8a-5016479dd647 CLINVAR:40389 biolink:is_sequence_variant_of HGNC:1097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1564ade5-f4e1-411b-ab5a-6571221ada56 CLINVAR:44603 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ff77f602-51be-42db-b021-e5ffcc8e0612 CLINVAR:44603 biolink:is_sequence_variant_of HGNC:9644 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 57a24857-b0ac-414e-be20-7cdba24458d2 CLINVAR:504514 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 517a6ef2-776b-42f7-b92d-0ac5a2c7a396 CLINVAR:504514 biolink:is_sequence_variant_of HGNC:9829 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fd54b29e-3cb3-4ace-93eb-91b7c54766d7 CAID:CA16020906 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 00ac06ce-01d9-4546-808b-55353b65b2c9 CAID:CA16020906 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8fb0c366-713e-4172-893d-039290ff16e3 CAID:CA16020975 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 811e012a-8c88-49fd-b75f-c7a8ae1c48eb CAID:CA16020975 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dd980beb-7b68-4cdc-8ed9-4e2c2eb6c0ad CLINVAR:626 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 068d97e3-6b3a-4355-902e-c03df78dc8a0 CLINVAR:626 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cb2eddde-fe4b-4f85-837d-952aff006ece CLINVAR:634 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4729f7b3-88de-4282-bca4-0e71cea817a9 CLINVAR:634 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 547fad03-f732-42f9-8871-e322575c2524 CLINVAR:625289 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 81547043-d313-4284-8108-5f83d2aa1d2f CLINVAR:625289 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 973a7682-533c-4ad4-aaf9-82effc679e1f CLINVAR:626282 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 23858eb1-212f-4f38-aceb-11f69d110bbd CLINVAR:626282 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a2a1289d-e0d2-4926-a46c-9fed05fbc7af CLINVAR:523937 biolink:associated_with_increased_likelihood_of MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b0c9304c-3bcc-4be5-8ed8-f12c5598739d CLINVAR:523937 biolink:is_sequence_variant_of HGNC:7605 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9c622384-7235-4cae-98e0-d9f9daad8d64 CLINVAR:429215 biolink:causes MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 00ef842b-e817-4a38-9474-5ca6f3e373c1 CLINVAR:429215 biolink:is_sequence_variant_of HGNC:12601 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2747eca4-ef28-42f9-a2dd-736b36f039d6 CLINVAR:188878 biolink:associated_with_increased_likelihood_of MONDO:0010134 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f218430b-53c6-4939-8677-c30bb6b91f6f CLINVAR:188878 biolink:is_sequence_variant_of HGNC:8818 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 60dc5530-ffcc-4663-98d5-76f6f0aff5aa CLINVAR:236537 biolink:causes MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8bbd583d-c247-4371-9822-c6b243ae966c CLINVAR:236537 biolink:is_sequence_variant_of HGNC:12601 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 72cee906-0d32-4ce8-b307-9eb3c62c137b CLINVAR:166488 biolink:genetically_associated_with MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3423b225-aab1-4129-9d5e-6c78b1ed2c91 CLINVAR:166488 biolink:is_sequence_variant_of HGNC:12601 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fa3a7230-5a22-4fd7-b3a3-1f65d47b55b4 CLINVAR:120284 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8dcd2cd8-f362-41df-97a8-2607f7957759 CLINVAR:120284 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2e84a4eb-19dc-4c8f-b931-eda08ce0efe1 CLINVAR:43298 biolink:associated_with_increased_likelihood_of MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 499365ef-602c-4ab1-99ec-65a8afcfcd8f CLINVAR:43298 biolink:is_sequence_variant_of HGNC:7606 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 282954ee-0d24-4b0b-b247-94bb6e834f62 CLINVAR:44731 biolink:associated_with_increased_likelihood_of MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4c0ecfad-3a36-4951-9462-6a5b6654d251 CLINVAR:44731 biolink:is_sequence_variant_of HGNC:4284 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9879039d-d0aa-4a4a-a8fb-9976a305fb98 CLINVAR:44829 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a0ba06e5-b693-45cf-be38-c7aedcaf7742 CLINVAR:44829 biolink:is_sequence_variant_of HGNC:1097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7a8554f6-f3a8-422e-84bf-c8a160e74b6c CLINVAR:40367 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 92374b74-56be-41e6-b276-3c29032234d8 CLINVAR:40367 biolink:is_sequence_variant_of HGNC:1097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7dae70e6-8b7f-4919-9451-3e7ccfd28eb0 CLINVAR:280446 biolink:associated_with_increased_likelihood_of MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6272e662-b7c5-471e-963d-1afd59463b1a CLINVAR:280446 biolink:is_sequence_variant_of HGNC:6840 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a7fe8156-d974-456a-9166-b7e99840ab60 CLINVAR:44832 biolink:associated_with_increased_likelihood_of MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e6945ab6-1a77-4ba9-8536-358037a18e16 CLINVAR:44832 biolink:is_sequence_variant_of HGNC:1097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 130978a9-3873-4ff1-a428-75793d4310fa CLINVAR:375981 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b6beefbf-58bd-40d3-ba6b-2470689b103d CLINVAR:375981 biolink:is_sequence_variant_of HGNC:6840 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1db76654-1ef3-492e-bf95-cc4520b64f78 CLINVAR:120263 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4d5a1548-c9fc-470e-82a1-8f4d2a3eba62 CLINVAR:120263 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 77fe85bf-0c65-447a-8490-b534da6769a3 CLINVAR:120262 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 96519eb8-275e-41a4-8418-c549c64eef60 CLINVAR:120262 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8d6d48e2-aaed-4ac6-ba5f-d0cb607bc336 CLINVAR:225375 biolink:causes MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6c660639-5073-4751-a54c-a3f9e578a2fa CLINVAR:225375 biolink:is_sequence_variant_of HGNC:4284 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1d9c15a5-1b46-4f2b-be6c-1f6ad661b76f CAID:CA16020976 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3f7365a2-59f7-4c16-9ffe-5468a74e6fa3 CAID:CA16020976 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8b685116-2bed-43c7-859d-53b73f49afd6 CLINVAR:102572 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ab539193-0569-46fb-970c-a044297d68fc CLINVAR:102572 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2e5bdd3a-659c-4fc4-aa8e-d153c22b9fb2 CAID:CA16020780 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4b5259e1-f59f-4a7b-939f-94752b7a68fd CAID:CA16020780 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 811541ab-388d-4897-b0a5-a17c5cdeaec1 CAID:CA16020747 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7bd7a85b-f297-4b45-94bd-8b4cd474a81b CAID:CA16020747 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 018feb9b-6e70-4f3f-87b9-2e513350a3a0 CLINVAR:92738 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 84bffcb5-f0e4-40f3-ae0f-09623c44e082 CLINVAR:92738 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c531de12-06b1-46e6-b239-9cd7a75ebe49 CLINVAR:102743 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e0ad36ca-5e41-4f8e-b46c-5aca9ce43262 CLINVAR:102743 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 87c91a70-67bf-4f20-8ded-46a0b4a70351 CLINVAR:102747 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0e344d0f-5495-446c-a879-55427032f627 CLINVAR:102747 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 89bfe120-361b-4eaf-a545-bc02e6a04423 CLINVAR:102499 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen dfc0e8a1-bd05-4f9d-b5c1-ba389b3e1d97 CLINVAR:102499 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6b89c248-3f74-46e2-884e-f88f02ff6c0b CAID:CA16020894 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 49f21f23-c378-4773-8b96-73bf6f49d480 CAID:CA16020894 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 95ea1d66-8468-4634-9468-1b09b3882b0d CAID:CA16020895 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c9a09af9-5dbd-41df-84e7-17c2c17bee43 CAID:CA16020895 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 577dce16-a0b2-49c5-bb85-11a435162627 CAID:CA16020967 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen fde04d10-abf7-4579-91d5-200e6bdc73d4 CAID:CA16020967 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8fa372da-ea42-4397-aeab-eb269ebba3a2 CAID:CA16020808 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6a04361b-52c8-4e80-a725-7e7887cd2c4c CAID:CA16020808 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e2abceed-cb65-4fd4-a7ab-1605e0a44fb7 CLINVAR:120276 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4b595358-388e-4ea7-9672-dab7dc6ce280 CLINVAR:120276 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bdcc52b4-c703-44c8-859a-d9aa059f5b96 CLINVAR:102655 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen bcf289ba-204f-41ec-b64a-c700bb5059c6 CLINVAR:102655 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ea47da6d-e4be-4774-ae90-7f0ca9f9792f CLINVAR:102506 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen cb723049-4a5c-4613-9a41-6cc10bde5fbb CLINVAR:102506 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aac8a25f-2558-4b62-bc11-10b2a1e0d856 CAID:CA16020925 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen cf3df833-c0af-4dd4-84b1-995fdf5168ed CAID:CA16020925 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c49b8f47-03cf-479d-9f14-7381f40a7547 CAID:CA16020903 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7fab965f-812b-4d02-b3ea-3033c158d225 CAID:CA16020903 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bbce8d0c-4525-4697-9ec9-bef6a45437be CAID:CA16020911 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4f368ab2-da2f-4d7d-a559-7573c241371f CAID:CA16020911 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 59cd471f-d228-415d-9e18-606ce848afff CLINVAR:102731 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0d6feb3d-fbe2-4343-80ec-3efe9aa9cf33 CLINVAR:102731 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 604b407f-39ae-44b5-8e12-ff8f850e84be CLINVAR:102901 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 954a6f7c-3ab6-40ef-abe9-dcd4fbecdaaa CLINVAR:102901 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a9e66e68-b43c-4398-b5d7-2458654c990d CLINVAR:391813 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5400df70-e303-4c54-92f8-113e36c48948 CLINVAR:391813 biolink:is_sequence_variant_of HGNC:9829 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ada24257-e299-4920-ae7c-9b2b46d348c3 CLINVAR:40674 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 48c66e76-67cd-4472-a162-fbb4d632e517 CLINVAR:40674 biolink:is_sequence_variant_of HGNC:11187 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b7c4838e-6a7c-423d-9778-1fc899ef2d83 CLINVAR:180851 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen cd8028b8-6978-424c-b26a-07e2f6c92aa6 CLINVAR:180851 biolink:is_sequence_variant_of HGNC:5173 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b5e42cd8-a0e8-4434-aa66-ee101985f77b CLINVAR:561622 biolink:associated_with_increased_likelihood_of MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 64bf8764-aa6e-4758-924e-f3c39c5d9242 CLINVAR:561622 biolink:is_sequence_variant_of HGNC:11187 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ff6d21f6-a561-4bc1-afc9-d605de06f079 CLINVAR:179760 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen cbbf4d9c-82dd-42c0-86a4-193f924fad9f CLINVAR:179760 biolink:is_sequence_variant_of HGNC:15454 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 366a2e16-8c4c-4880-89b4-89dc8a1b07ff CLINVAR:45368 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 63de3781-f1a4-4d48-aec5-39bd7ce3c653 CLINVAR:45368 biolink:is_sequence_variant_of HGNC:11187 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e9387886-ec4a-4180-88ab-be9baa1957c8 CLINVAR:48409 biolink:associated_with_increased_likelihood_of MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 908633b4-2f6b-445b-8d53-e4bf1b2effdb CLINVAR:48409 biolink:is_sequence_variant_of HGNC:12601 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 92972410-e49d-46b2-8474-48b9cc0555e7 CLINVAR:449490 biolink:associated_with_increased_likelihood_of MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a1fee960-90ba-4ccc-add2-4745b8d3e0e6 CLINVAR:449490 biolink:is_sequence_variant_of HGNC:4284 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 463ce178-c12f-4068-a0b6-0db24f107c82 CLINVAR:178937 biolink:associated_with_increased_likelihood_of MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 525277f2-efee-46a1-9dc1-4ff9c1d42097 CLINVAR:178937 biolink:is_sequence_variant_of HGNC:12601 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7d0e7bfb-a13c-40fd-b02b-2a127f62245a CLINVAR:102504 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5c841d29-383f-4561-a167-a227cf37a2a0 CLINVAR:102504 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2ba1c843-01e3-45a1-a8f2-53c2192bc486 CAID:CA16020988 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4d383b20-e7a7-43a0-8772-e3007e8c7c86 CAID:CA16020988 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d3517c72-6cfc-49f4-8558-3d55bce665be CLINVAR:427615 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e04874f2-6782-4fc4-990a-10f765aa86a1 CLINVAR:427615 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 35a6ddb8-c674-4d46-86f5-b50956d7c620 CLINVAR:498538 biolink:causes MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen db8ade09-4bb3-4fec-8abb-279227f82201 CLINVAR:498538 biolink:is_sequence_variant_of HGNC:11720 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 244c9134-ddec-4037-8785-7ed515208382 CLINVAR:561238 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 72da8dbc-1367-4bc4-942e-bc7a481f4402 CLINVAR:561238 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2f667008-4f01-41f5-a894-208330f93323 CLINVAR:561254 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 41ad3a09-cbba-4298-9f5a-44c36b56d8e0 CLINVAR:561254 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 67dd55ce-b6ed-47b4-aa30-729d8062621a CLINVAR:633606 biolink:causes MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 19db306a-aaaa-41bf-a615-2e98a743f721 CLINVAR:633606 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 72d17bbb-8323-489c-ba84-39074a8f2061 CLINVAR:12365 biolink:causes MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a3894ae2-7a79-4936-98f6-18dbd721a7e0 CLINVAR:12365 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e88157ff-c8b0-49d3-9001-5d6200800b09 CLINVAR:638853 biolink:causes MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 07eb1ae1-8a35-464e-995a-b30b5984063d CLINVAR:638853 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8f2bb1cb-0c66-4932-9610-722fe0596b12 CLINVAR:567576 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e6466a69-e805-4a3d-8eb0-d405faa8554b CLINVAR:567576 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f88d174d-32b8-43be-9ce0-dfad56c3518a CLINVAR:491536 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 47bfc70b-9fdc-43ef-806d-0d45e13284eb CLINVAR:491536 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d6585700-f12f-454a-8563-4dbd09ac2ad6 CLINVAR:406631 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1b598ff5-db97-4332-a7e8-55ea3e866669 CLINVAR:406631 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a2cd4bd7-51a5-41eb-a445-71a9fcb672e2 CLINVAR:439045 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2cef505a-2021-4aa7-829b-18da1c3df7dc CLINVAR:439045 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9a4a73f1-565b-4ce0-ad4e-27a25a4a841d CLINVAR:496817 biolink:associated_with_increased_likelihood_of MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6dd4e047-ac01-4418-b664-a1b76240df04 CLINVAR:496817 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 43a61587-0f1e-4f75-950f-d53a3a634766 CLINVAR:622 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 17f3e545-6778-4a3e-a900-5856c621eb33 CLINVAR:622 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen af5cf30d-f13b-4471-8c12-6c4d294bb3e6 CLINVAR:102834 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fbc74181-e20d-434a-953d-fa1285108124 CLINVAR:102834 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4e231c23-1937-4485-815e-9305113f3fa8 CLINVAR:370074 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f2e3a170-6806-4448-ad47-1ed951b630d6 CLINVAR:370074 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b7bf48ff-6dfe-4f8c-a5c0-6327b59179b6 CLINVAR:555797 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 159c2edd-dda1-4d57-9738-859281dd6c76 CLINVAR:555797 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5ce2b8b9-1cb9-48f9-861e-d484a28051f3 CAID:CA16020996 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 045837d7-e37e-4750-8d72-73e207dd03cf CAID:CA16020996 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d8986504-c1d7-4bea-8289-871c9bc38b99 CAID:CA16020997 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 840b6548-21dd-4d5d-ad1d-c0237b9a7edf CAID:CA16020997 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen faaf31a7-a5dd-4377-9ee8-2696a6e13dbb CAID:CA16020991 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9dd84b0b-4ab7-4e24-a0fd-3281fc11a4a4 CAID:CA16020991 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8874d95a-1411-4c70-9eca-dcc828257bc0 CLINVAR:578 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a8358feb-863d-488b-99eb-db2bba8f4ef4 CLINVAR:578 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 65e2d299-6c4e-4df7-ac37-458658b4f8b7 CLINVAR:102609 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d83e294d-7852-493a-b7dc-b2e0d91089d8 CLINVAR:102609 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dea927fe-e8e0-4f62-84f8-0c974411e0b0 CLINVAR:102846 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ed2efd6d-6bcc-4313-8296-6faa33513463 CLINVAR:102846 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cd0cf2a2-3ba9-4a4c-ae4b-724d71f055a3 CLINVAR:805828 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8f93eccc-722f-4576-97e5-a37240e23121 CLINVAR:805828 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3cddc165-6202-45dc-81fa-57f9a85beec9 CLINVAR:188771 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f9a85e46-7831-4a2e-8c40-9a27816b4cfb CLINVAR:188771 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen acb54f88-a524-4932-ac0b-6fc37a55a353 CAID:CA16020909 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 183a8ce6-3d59-48b2-8e35-9e16f5c57339 CAID:CA16020909 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e4b80ceb-fcd4-46ed-92d5-4f5ecff816e5 CLINVAR:842394 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9d133234-a764-42fb-9621-4d1a3a695163 CLINVAR:842394 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f277452f-3fa9-4e37-af07-38aff4aa7be7 CLINVAR:635216 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen bcde9cdc-5e7c-4778-87ee-f83482a39efa CLINVAR:635216 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 162cd1b8-a18e-4849-bfc2-d1281818da73 CLINVAR:102642 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 99cd910a-1c15-47a0-97ec-2fab20814d60 CLINVAR:102642 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 03dfb3eb-f671-4f8c-8fe4-2d3d72e642ab CLINVAR:120298 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 34340567-769f-4c8f-961a-28448f60e864 CLINVAR:120298 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 14430e48-2fc7-4b2c-b079-35fb524d0be7 CAID:CA16020910 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a5207057-ab91-4648-a088-7fa4bf9830ca CAID:CA16020910 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bd588d93-cb40-4af7-8dd4-42d4eed2fe67 CLINVAR:805827 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b078636b-d223-4b2b-83ba-21d686ebdb98 CLINVAR:805827 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b1076831-75fa-4913-b289-5c505276b75e CLINVAR:102671 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c3d6423f-0dbb-49b4-ab47-5639fc5728f8 CLINVAR:102671 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aa9edd02-3c3c-4a8e-b9b6-8174342eb3b9 CLINVAR:120272 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1ec0a073-4492-437b-8893-70bdb4e34cba CLINVAR:120272 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2c6a7cb9-463a-4d39-8bf0-a2fc1223f292 CLINVAR:372656 biolink:associated_with_increased_likelihood_of MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 87ca816f-724a-4b0f-9ea4-ca23946ef16c CLINVAR:372656 biolink:is_sequence_variant_of HGNC:11187 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4b64057a-42b0-45d0-a356-dc3aade6afe0 CLINVAR:40681 biolink:associated_with_increased_likelihood_of MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 60ea1dc0-1199-4b0b-8c72-9f6686852c0e CLINVAR:40681 biolink:is_sequence_variant_of HGNC:11187 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 558e32b7-778f-4b32-ac04-a5c583a2fd31 CLINVAR:12872 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 574d560d-1121-4242-8f8f-3d4b65bb9d8f CLINVAR:12872 biolink:is_sequence_variant_of HGNC:11187 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 90151013-a9e7-42de-864a-60772b12beb9 CLINVAR:40684 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ca77a44d-2641-4244-ad4d-230895569213 CLINVAR:40684 biolink:is_sequence_variant_of HGNC:11187 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7e1f0175-c792-4de1-a30c-e2e20f2c10b1 CLINVAR:40682 biolink:causes MONDO:0018997 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8a1cf0fb-a290-4804-9b8d-6b39ca4fd1d1 CLINVAR:40682 biolink:is_sequence_variant_of HGNC:11187 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 78ef717e-0b1c-4b9c-afab-19a60af91f9c CLINVAR:40683 biolink:causes MONDO:0018997 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f505f2d4-7570-49e8-91f4-45e2680b7a6c CLINVAR:40683 biolink:is_sequence_variant_of HGNC:11187 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 438bb29c-eef5-45f2-b582-207c5ba7b3e4 CLINVAR:189041 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a75632ca-2e7f-48a0-8dfc-eb59b0b08039 CLINVAR:189041 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6f6fbb71-327a-4558-8417-f3aae9bd01c5 CLINVAR:167113 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 26c04e68-a1f2-4129-9169-66d368b25c49 CLINVAR:167113 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 81d11df8-6f60-4362-aa91-f54661aaa356 CLINVAR:127823 biolink:genetically_associated_with MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0e282e75-8b51-4dff-a595-4afcee26c1d5 CLINVAR:127823 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eed0b8e6-88df-46c3-93d8-6f1d5a3dd106 CLINVAR:230764 biolink:genetically_associated_with MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4bbae424-79c5-4f9d-bd35-88aba0f3d24f CLINVAR:230764 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e7bcb93e-b1af-451a-8494-2f88c5c3838a CLINVAR:245851 biolink:genetically_associated_with MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 989e994e-575f-402e-8967-ded640b600aa CLINVAR:245851 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a6cf26a0-2ba3-4159-aa6d-da7dbd1cb3e5 CLINVAR:246429 biolink:genetically_associated_with MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1e69af49-54bc-4013-9350-233ac54351b8 CLINVAR:246429 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 914d1eae-ea23-4acf-bb35-599680d6571a CLINVAR:376624 biolink:associated_with_increased_likelihood_of MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4108058f-7ea0-47b8-9c61-aa3b10321f5e CLINVAR:376624 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b4d616ad-0cca-49e6-bfeb-1b32fc016819 CAID:CA16020955 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c3ce989c-46d9-4305-9dda-186dd6ed56ff CAID:CA16020955 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 43f499b8-c2e4-4ab7-aafa-b5938f80795d CLINVAR:4842 biolink:associated_with_increased_likelihood_of MONDO:0010134 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 876fa201-b609-430e-8c24-e1d22fcc23d9 CLINVAR:4842 biolink:is_sequence_variant_of HGNC:8818 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a26d54fb-b3d5-4f02-ba87-87ae0ffc9164 CLINVAR:102918 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ce74f7ee-f7f4-43b0-8eb6-a90cc70de5a9 CLINVAR:102918 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ff0d7cb7-5415-4ab8-a72b-b183915f416d CLINVAR:102566 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 239f5e29-244c-4c7f-bf3f-5f76f539c3bb CLINVAR:102566 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 44e51f73-bebf-4bbc-a425-c4ccebc45f96 CLINVAR:987756 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9c606a6f-308c-4f4e-bea0-db54ca0e5b4c CLINVAR:987756 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a3c1507e-935d-41d9-bc0d-0e8fd545432d CLINVAR:987755 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b5061259-bc6e-44f6-97a3-3e5696e83e45 CLINVAR:987755 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 92789d91-0da0-457b-8fa0-423a1f5de36b CLINVAR:102544 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4c4f4fb2-ba3d-4d43-9bd9-5265e840c979 CLINVAR:102544 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 884f30dd-c30c-4dd5-94df-e43619a68269 CLINVAR:102560 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ea1fa98a-34fb-4ebd-a4d1-2f59cb51e318 CLINVAR:102560 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ffa158ce-7757-47a2-a9fc-2516f641930d CLINVAR:102550 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 00c8ce73-90ce-4a87-b0ec-7fe58f55920f CLINVAR:102550 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 55f4dd9d-12f5-4d9f-86ff-5a86241a7881 CLINVAR:987910 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 197073a1-7dac-4504-a09d-93ce4280e7d6 CLINVAR:987910 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 555e9cf4-d965-4ddf-87f5-91a39d82c660 CLINVAR:102714 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3531a4c2-688f-41bb-9e56-bcde8f08b25c CLINVAR:102714 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4aa7d8bf-f18c-4f90-9f72-d35e6825ef01 CAID:CA16020875 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f830062d-e484-4029-a63f-f46743768489 CAID:CA16020875 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d0c1e7ad-5728-4363-a245-97f69b7454c7 CLINVAR:574672 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c38d57ee-157d-4e7a-acc5-029ecb4cbcae CLINVAR:574672 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7978d491-0488-46d5-8e0a-88933447c59f CLINVAR:428622 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 49ae7947-1f33-46ed-8053-15cff976e21c CLINVAR:428622 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a359e51b-8d5e-4a45-bd3b-4a1cffa3c81e CLINVAR:265635 biolink:associated_with_increased_likelihood_of MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 12bcee57-3352-4512-be88-660893d0cf7f CLINVAR:265635 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4f4b3e24-a1fc-40c0-8988-db03857d1b8d CLINVAR:439040 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen af072d6e-b559-47b8-9707-876c0d2a2c24 CLINVAR:439040 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 544b1964-fc1e-466f-967f-c4093e4f6892 CLINVAR:428633 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f6ee5d00-7496-44ab-a22e-2783d057c08b CLINVAR:428633 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4dc62583-8f6f-4d04-8a2e-c05659707abf CLINVAR:491497 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c5f4e096-8636-4c8b-81d3-ec5832c7db1f CLINVAR:491497 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c39a3a65-0413-45d6-a29e-57cbe32c6dd1 CLINVAR:422539 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9400549b-0a16-4892-a570-58b514767ff3 CLINVAR:422539 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 25d5d715-7b56-497d-a234-e446c43d2edf CLINVAR:449339 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f71814b9-2a48-4bdf-a20c-9ce52f253d91 CLINVAR:449339 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5a40a2ac-6fd9-4f8d-98bf-3e8581fc5b75 CLINVAR:545756 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2f5a38bf-cca5-4cb6-91a2-8529542ce0ac CLINVAR:545756 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2029f549-cd62-43b6-b939-27d760e40b3c CLINVAR:234610 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0fbe2f33-7e27-48cb-81c6-336093940a59 CLINVAR:234610 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen af5a29de-56b8-4a27-ad60-c2f85d8c84d1 CLINVAR:532477 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen faaad46c-93f8-4ff1-868e-d0d85719b35e CLINVAR:532477 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e26fa255-abc0-4a82-8f73-b30a01dfcda5 CLINVAR:182376 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5d08a140-6081-4962-ae53-eecb4d115aea CLINVAR:182376 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 241533fa-d21d-4620-8837-1da43882f188 CLINVAR:185252 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 91620053-c317-4fc3-a1bf-bc0624bb814a CLINVAR:185252 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 34f68e9d-e0ca-4135-b0ad-7f0036233006 CLINVAR:140781 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen dbada46c-4540-44e8-b111-4806c3551115 CLINVAR:140781 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1afd6a05-c1c2-478b-ae4f-d0fd49ef4741 CLINVAR:420613 biolink:genetically_associated_with MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b81bc50f-551b-4387-a1dc-baedce3a56de CLINVAR:420613 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 89db93c8-993f-490e-96d0-96961c927f3f CLINVAR:532441 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 340208bd-e1f5-40e7-b308-f8b84e82a983 CLINVAR:532441 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2245e14a-f224-4bdf-8738-7f3b3042a848 CLINVAR:406676 biolink:genetically_associated_with MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 828768ad-6307-47e9-ae7e-972f9dd5c80e CLINVAR:406676 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2e72b3e6-8beb-42ab-9950-241b2a19e158 CLINVAR:428624 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen cf352644-27c3-4134-9080-04dd809941bd CLINVAR:428624 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 603e80d6-bafa-4f5b-8e63-4f2aea781eb5 CLINVAR:496818 biolink:associated_with_increased_likelihood_of MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a988ac8f-046a-4f46-b936-c3b16bba3f8e CLINVAR:496818 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 97cc60cc-8134-4f44-ac43-acefc1fe9d6a CLINVAR:421050 biolink:genetically_associated_with MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7303f274-42f1-48a5-b943-855927776844 CLINVAR:421050 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0cc202db-dff6-461e-8efe-533271c0fac1 CLINVAR:485476 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7ba0848d-2d6a-42d3-ad14-1326948a3642 CLINVAR:485476 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 58fada43-d3c3-470b-86f7-8fd1aac0258a CLINVAR:234812 biolink:genetically_associated_with MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 76e829a1-2a5c-4152-bdc0-9945148c9752 CLINVAR:234812 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f44b3467-4670-4ddb-8f2c-92f597417d66 CLINVAR:230175 biolink:genetically_associated_with MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 903b4291-163e-4520-98bb-d4d8d92d7a03 CLINVAR:230175 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8c88a380-ca48-467d-876c-507d141252c6 CLINVAR:488647 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen fd63d94b-1185-40db-9cc3-ba77eb29a3d5 CLINVAR:488647 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 66b3689b-a511-4401-9cc0-084605bb1e5f CLINVAR:406615 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4eac1dd9-9e47-4c02-a86b-bf73897d9e1f CLINVAR:406615 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e604e3f5-71a8-4fa9-86a8-aba9798103bf CLINVAR:481173 biolink:genetically_associated_with MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e6ce83cc-5353-46eb-bec5-3422d4abfbc9 CLINVAR:481173 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 299ae99e-6583-49b7-b816-bf13b43f1e67 CLINVAR:234904 biolink:genetically_associated_with MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f017f5eb-4291-437c-bfe0-d0a2dfee32db CLINVAR:234904 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f27acbd7-a07a-42ae-a591-3915085642b6 CLINVAR:981224 biolink:genetically_associated_with MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 65c2cb96-5465-4c61-8088-b80d98df9d02 CLINVAR:981224 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c5d35a7a-b5e6-4b44-af30-f81b45122263 CLINVAR:46076 biolink:genetically_associated_with MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen aba02ebc-9d96-44f2-9db1-66af8b673aba CLINVAR:46076 biolink:is_sequence_variant_of HGNC:13733 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9ec239a1-1f68-43a6-bbf4-ddf9cab9d0cc CLINVAR:102669 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2569b203-048f-49a7-b488-21034acd260e CLINVAR:102669 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f9c2f0c2-482b-46c7-bc8b-106c76226acb CLINVAR:554011 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6bb46653-a508-42d2-9015-a63a8ef2615c CLINVAR:554011 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 494b7e32-8b63-486f-acb2-727d4fd7c7c5 CLINVAR:102724 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 587e8482-904f-4f65-89ef-394d05d4570b CLINVAR:102724 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9468c72b-41dd-49d4-95c9-4172f4f6724a CAID:CA386299637 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 402c19c5-7972-42b2-b7e8-5b365cd94292 CAID:CA386299637 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0441dde2-f935-4083-9733-0995bbfc7d08 CAID:CA386295265 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 94789c54-d7db-4231-b160-02e0820f889c CAID:CA386295265 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6c9e4ba7-e96e-46d8-b073-b658128fa6c6 CAID:CA1139532470 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d9fae11a-2888-414b-8294-e5d529db0ff5 CAID:CA1139532470 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 727b36cd-b767-483a-b9fc-029afe927b9f CAID:CA16020841 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ff2e73c7-c791-4049-a6d4-518a98581454 CAID:CA16020841 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dc9ad44c-6c29-41db-86b4-8c20735fedc2 CAID:CA16020766 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen aa04e564-c494-4280-941c-2c2e3acfbcc5 CAID:CA16020766 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f4de3325-e30e-41a6-9745-95bafdc73fed CLINVAR:102733 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2df1b020-04c7-4a77-a7ed-44993bee5203 CLINVAR:102733 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f6eed0ec-c92d-4cb6-aef0-9224cde79aca CAID:CA16020829 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ee5d5f6f-2c36-4bd9-9466-6b8b77951b91 CAID:CA16020829 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 871078fe-0735-43ca-a1c3-fd1f4cb2967a CLINVAR:102556 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5ff50b0a-6bb6-4cd1-84d5-73c56ad3c363 CLINVAR:102556 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4dc3e9b4-26ed-4082-a893-b116e91fbad8 CAID:CA16020787 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 919756b4-80e3-4b40-8adc-f7de276e08bf CAID:CA16020787 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e14b82da-c8ed-40e2-88dd-359051f91f79 CLINVAR:92730 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e6d6cbd1-5d93-4e2d-a727-b596ca191dcc CLINVAR:92730 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f25782ce-c3e0-41c8-a2bd-9c460084b93d CAID:CA386304277 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 07c13536-496d-472b-b2a7-271585aeffd4 CAID:CA386304277 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 33516159-6055-4950-8742-e3bcbd3f8778 CAID:CA386295865 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 31ca1997-464f-49cf-9227-374cdee1481b CAID:CA386295865 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6187ff42-7cd3-4e0b-ad8e-9abf5fce9e8d CAID:CA6748922 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 37754485-3a37-4ddb-8285-5b5a3d352fcb CAID:CA6748922 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9ecdba4f-bd5a-4536-a8af-8d257f2d5e44 CAID:CA1139532533 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d2e6d680-badb-4556-8a69-b485538d366c CAID:CA1139532533 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 64b2a9a3-f00a-4cb8-af88-56f4059e7445 CAID:CA16020961 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6857262a-b126-4e83-b8e7-2460edca21d9 CAID:CA16020961 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1af9c502-46d7-4f92-a30e-e39c09efaffd CAID:CA1139532543 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 15894283-3988-4764-a06f-d3899791fc74 CAID:CA1139532543 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b1403ccb-8f08-49aa-93a0-bf3178c4f8e3 CLINVAR:102541 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c74edacd-e035-4893-8b44-6cefc0d00301 CLINVAR:102541 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 653c70c5-12fe-4879-8da6-d89e121e0df7 CLINVAR:458082 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 31e036de-3fa6-4ee1-8526-bb3cedba2549 CLINVAR:458082 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 08e43754-c37f-4edc-a3e5-2a88b3dec998 CAID:CA386304179 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 92cb8f92-62fe-49dd-b055-73202cf4a429 CAID:CA386304179 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d666e524-3a2c-45d7-b7db-bb9d8697e949 CAID:CA1139532534 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6b383a12-310f-45b1-86c5-b6235af4fff8 CAID:CA1139532534 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6dd477f8-38e8-4b71-89e0-2cd8ed7f6e27 CAID:CA481332664 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d1be7a55-37b6-49b8-8983-8eaafad5b0f1 CAID:CA481332664 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9c298589-efd7-42ec-b302-6e86dd4c5339 CAID:CA481333203 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 62d54743-2d5a-4d2f-ae0e-dc56da2a4366 CAID:CA481333203 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6be7412f-64cd-461b-91c2-839a4bcbf270 CLINVAR:571388 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f9f5892f-cdb7-4819-bb07-d95ebfb70086 CLINVAR:571388 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ea9faab8-fa6f-4012-95cd-11e4120f5e9a CLINVAR:552279 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3b6f26b2-0a6a-4022-aa14-f4fcd8f0ed07 CLINVAR:552279 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0ad89d09-007e-4cc6-bcb6-cdeb25e2898c CAID:CA1139532590 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a03388f2-d227-4d44-b4b7-8192fbaaf17b CAID:CA1139532590 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 43d994ab-90b7-462a-bd39-c37d06f39859 CLINVAR:631 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e983ffaa-0f4d-429c-9b8e-bdef5e00afbe CLINVAR:631 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a906cc7c-1597-4c32-ae2c-e6e67ab2856c CLINVAR:555138 biolink:associated_with_increased_likelihood_of MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9b4b0d1c-8419-43d3-88bd-fba54cb249c2 CLINVAR:555138 biolink:is_sequence_variant_of HGNC:7606 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 72820bea-def6-44f3-b818-6cf0c340a527 CLINVAR:102638 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1ee9c0c3-0b1b-4e98-a2ee-f5241cf573e6 CLINVAR:102638 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e56f8c94-86c1-4e54-9c77-c3ce447eb750 CLINVAR:102756 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b1fe2337-6ee9-4124-b7b3-e6e317dc962f CLINVAR:102756 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 80e5e84c-286e-4e7f-94eb-0196a86b82c9 CLINVAR:102800 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c017d6cf-d624-4370-a3a3-208d04c9129c CLINVAR:102800 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen beb3a355-aa0d-4e6e-b548-f9ff85f9011a CLINVAR:102796 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 117925d4-22e6-4cb1-9649-da9cfcc12a12 CLINVAR:102796 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 16d00652-6348-4385-b2ff-d6c5597c71a5 CAID:CA16020786 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ecb389e9-734b-42ae-b155-e5d15de8c252 CAID:CA16020786 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a263f7a4-f0b8-4e08-a502-aaeb9dd84208 CLINVAR:551658 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ce1bdf98-f736-4471-85c4-1f48e7ae2988 CLINVAR:551658 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen efcb178d-4db2-4f74-8e32-a5119704534f CLINVAR:987913 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8afc73ba-3d22-4d6d-b82b-6d8e1b1849a3 CLINVAR:987913 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0e33a0b7-b4a7-4f56-892b-3866058e4975 CLINVAR:102543 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b75bfd05-58e3-458a-88fd-5018a3f441e3 CLINVAR:102543 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5a4c368b-5c42-4072-8803-d01b8df90828 CLINVAR:102542 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c0e04c07-d227-4b04-a41a-a8458a7d6172 CLINVAR:102542 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ab66f764-db08-49e5-90a1-9abb8bcae03f CLINVAR:102530 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6e6c928d-12c9-4c8e-80fb-84d84cff442d CLINVAR:102530 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a3b5160d-470f-41e6-b0b5-873fed84ac48 CLINVAR:102621 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f403c88f-a469-4808-bdb1-01c9c64ce691 CLINVAR:102621 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9f8fc838-eca8-449b-8623-cb5c2bc6c8c2 CLINVAR:102489 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7f95d7b2-06a6-4cf6-89e7-13a25bee8863 CLINVAR:102489 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6f8bb833-cb9d-4fcb-ac20-bee006ccf0ba CLINVAR:102734 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1ffb569c-9241-44b7-9e23-a3b161a89704 CLINVAR:102734 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 40eacbac-2dc0-43c5-950c-4a66f9216ac9 CAID:CA16020815 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a62d9100-a906-4444-bd9a-06e799be6c70 CAID:CA16020815 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ed278585-9033-4985-8776-5ae4c5a4d1de CLINVAR:102741 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8c929239-5945-430d-b439-20ffe9f98082 CLINVAR:102741 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 581588d1-fdea-4a4b-b247-147ca425363f CAID:CA16020821 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c0d3e19d-37b9-4730-a6eb-b1cfb59c8552 CAID:CA16020821 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 755da5da-e9d0-49bb-80ce-210805866254 CLINVAR:102769 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ac87de69-c407-4fe0-b592-feccd45f1f45 CLINVAR:102769 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 76d623a8-a2f2-4f6c-9fd7-1fc501be9041 CAID:CA16020838 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1fb0a601-cd9a-4587-bc75-00b6cea6614f CAID:CA16020838 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 714933d1-4130-49d3-9a02-92a907d86298 CLINVAR:4929 biolink:genetically_associated_with MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6219db21-7968-402c-88d9-f084da1132fe CLINVAR:4929 biolink:is_sequence_variant_of HGNC:13733 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 52a7d788-bd7a-4013-a46d-9616c32c06b0 CLINVAR:43230 biolink:causes MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 885d52f7-9dde-4c96-9fc5-3e904978305c CLINVAR:43230 biolink:is_sequence_variant_of HGNC:7606 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1d2d69fa-6716-445a-9af6-6f4ae87d91d5 CLINVAR:984798 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 40593d99-e96b-4c00-b79b-b2de3f4cd8ef CLINVAR:984798 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 419c0757-a4f9-46f9-afb8-da114356faaf CLINVAR:984802 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen fdd93e7b-632a-4b4d-87c6-dc53c9bc2619 CLINVAR:984802 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9fdbfcb7-f086-48ad-9f7e-41103bbd8bda CAID:CA658795253 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 66e3aefe-675e-487c-9fe0-f9073e77b881 CAID:CA658795253 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f332455d-0c69-48e8-826b-5991d63a649b CLINVAR:557360 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 406a972b-ebc2-4d86-a686-5b7dbea1eb2d CLINVAR:557360 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f962dd82-e124-4658-81c1-2902f862ccc7 CLINVAR:984800 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 43cd6959-e80f-4e13-81e5-38055c434439 CLINVAR:984800 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 73c4f0d2-f79d-429e-969d-76a5b15623d1 CLINVAR:371302 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1a61f6a5-bc2c-4e88-855c-3de892e44e3e CLINVAR:371302 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a0c5f2f2-3c5b-41f5-b462-059304e97617 CAID:CA401363371 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7a475b20-c302-4416-8e99-3274628ffe8d CAID:CA401363371 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 814e1fd6-56ce-4fda-87fe-a0af7144658c CLINVAR:972762 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d65d2946-21a5-4499-b0bf-ca5a1c47650c CLINVAR:972762 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8f420e69-8351-42a8-b409-5cc2cc5998cd CLINVAR:552839 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1e3d9363-91e7-4bff-859d-d416a3ea069d CLINVAR:552839 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5f54dcea-f376-44b2-beab-acfc807f4f9c CLINVAR:423925 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1eb8d48e-1f72-48ea-a129-b5f104c1c75c CLINVAR:423925 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 77607780-3b9d-468d-afce-d9272d4f0074 CLINVAR:370241 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2f35ab88-969d-4956-8edd-920179405c2f CLINVAR:370241 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c465a6e3-360c-4c4d-8c2c-14d47ccf460e CLINVAR:456415 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6f39f1e8-a34c-4b28-94ee-06f5ebb13ce0 CLINVAR:456415 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 36239dd4-b912-47ea-b97d-15764bf855df CLINVAR:555040 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 81dfd8e6-4297-449e-9e9a-5912895b7565 CLINVAR:555040 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 890ba4a7-5a3d-49db-9ccc-3048fed9e0fc CLINVAR:370458 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen eb130a15-8aba-44d1-846e-1e37a6d4ba28 CLINVAR:370458 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ad59ce61-f881-4742-ba4d-d2b476924112 CLINVAR:526523 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 22cbfb78-620e-4805-a804-3d1c521e8110 CLINVAR:526523 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c5feac41-0ce3-4b4e-b0aa-952b80e75ae6 CLINVAR:371580 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f9cbe716-251b-417e-b9ed-5594e2afa1f7 CLINVAR:371580 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3cf0f3c3-1b08-4f9e-b1ae-c1c93ce7e9a5 CLINVAR:551530 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3b2df55f-c0ee-4c0f-8ff8-c98b752cc047 CLINVAR:551530 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4d2d9b61-7559-4530-ae74-3b02dfcede1a CLINVAR:371501 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 148fdd02-f34c-4fe4-8285-4ec13e10360a CLINVAR:371501 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c979a39b-19ee-41f7-9d55-51a42e675754 CLINVAR:596146 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a1e2e027-d503-4321-9a79-c4b80376fb39 CLINVAR:596146 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b1b0b565-9867-4927-b042-6d64b4a1d4f0 CLINVAR:189057 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a55c0aa7-db5a-456a-9cd0-88e7798076d8 CLINVAR:189057 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 116da573-5df3-49ca-b1a2-29694b55eb9a CLINVAR:553981 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen bedeeb84-5778-4038-bbcf-55dfcb83982f CLINVAR:553981 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 319373d6-7cb4-4586-b812-28b289340f0e CLINVAR:550104 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d6d0ac98-619c-49d4-b969-4fc29b50c56e CLINVAR:550104 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a6c4184a-8603-486e-9d7b-7774615f2fe7 CLINVAR:188880 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 344e26a3-c2e1-4a9d-91dc-8160fd31834a CLINVAR:188880 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f159015f-5e1c-4afc-905f-44bef0179ba8 CLINVAR:556534 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2fbad4b3-df37-4b81-aedd-2eb2e1e37030 CLINVAR:556534 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fc31aad1-a8cf-4a37-b164-071de53cd631 CLINVAR:656144 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b82cc6d8-e945-457d-b630-42ece154e870 CLINVAR:656144 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aacb7ccd-4f04-4182-aa2c-deea74c750e5 CLINVAR:282254 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 210e95b3-0083-49be-9383-d179ca967884 CLINVAR:282254 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9ece3ecb-c799-4f81-894a-0e094ed76316 CLINVAR:597147 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c3602f02-5672-4c07-8cda-6f26f7479359 CLINVAR:597147 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3b429f8d-a708-4412-91e4-3fcbc572fc5f CLINVAR:370810 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9b9d113c-7955-4755-a5b3-39f93b12365e CLINVAR:370810 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a8122ce8-2e43-47d2-b767-44462c356c28 CLINVAR:497032 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 017822af-a167-490b-9468-e81d2047e665 CLINVAR:497032 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen df03a9f1-602a-4157-83bd-47d01f11024f CLINVAR:370263 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6c44f3f6-6b50-4c07-a2ac-b187a35eb05a CLINVAR:370263 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 647a80cf-e146-427b-aeea-fda80b9d6f1d CLINVAR:501294 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5706d957-8b58-450a-b8a5-29c507fce6ad CLINVAR:501294 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 164a9084-d521-46ba-afd4-fbdc3865f279 CLINVAR:4033 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen afc8893c-ae39-4217-baf1-48b4dfac7cc7 CLINVAR:4033 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 45395f86-f2a2-418c-b512-0647bdd01244 CLINVAR:370510 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ef3dd8b6-8bbc-48aa-81dd-68c6b8fa2ef9 CLINVAR:370510 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ba96c66a-4dcf-4375-9dd9-664797e87107 CLINVAR:371457 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen fb67aa2b-bf8f-41cb-ace3-24a9d6ab63fd CLINVAR:371457 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bb587bbd-fc1a-481b-ab07-f6e3aa8ba2a5 CLINVAR:552165 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 99887b52-b131-444e-9164-10d2607fce9e CLINVAR:552165 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b60c8233-4c3b-4543-a23e-6711e42a01ab CLINVAR:420101 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 31b1a26e-2fa5-49d6-aa26-d6561f88f803 CLINVAR:420101 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c1787cf5-09af-42d7-86f5-8dbb9c2b2596 CLINVAR:556959 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 40b835ef-ca28-4285-bb98-4c6bb3ebbe43 CLINVAR:556959 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d0d1192d-1744-44bb-b6b0-1e68ce0899af CLINVAR:370223 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f8e3b8f2-c7e0-4e52-a12f-f21c7a376fcd CLINVAR:370223 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d09733ce-51dc-4f7e-a82e-625dc416cca3 CLINVAR:556853 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 32777c49-dc67-473e-b60b-4607bece0a55 CLINVAR:556853 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 98fb7280-a9bd-4102-9c25-a161b2831b05 CLINVAR:188874 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 468900a8-f2a1-40d3-969f-8e7d0efac2f1 CLINVAR:188874 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 05fd0bae-3999-4c1e-9078-de3e6bfd00b8 CLINVAR:694453 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4ef0bcd0-fb34-482f-9190-e9f91b1b782c CLINVAR:694453 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 841951aa-0144-4b76-823f-a6af72a1e4f9 CLINVAR:371433 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a9d9539d-4ae9-47ba-a204-34cbf6708991 CLINVAR:371433 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f7d09e1c-e9fb-450d-91ba-83f0e949670c CLINVAR:520974 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 36f0c98a-f0d7-4fc7-bc36-658e8f3649b1 CLINVAR:520974 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dc11a08b-73db-4515-8b64-b27727f27f7f CLINVAR:370866 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen aafdaa29-64a6-45e4-94a3-2fe2fd1d7ca9 CLINVAR:370866 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen afa0468f-f0e3-4dc6-a757-3e8246b78ef4 CLINVAR:693996 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen eaea9c1f-47f1-4764-9141-8a2a61427ba4 CLINVAR:693996 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 16516742-a545-4a12-9a85-939303d6a1d3 CLINVAR:632822 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 278b38dc-b64e-4ecf-babf-0ce9375c4b69 CLINVAR:632822 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e4886896-b1a1-48d6-8c0d-be419afdb2f7 CLINVAR:633225 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 08d2f5cb-3ad0-41ba-9735-55e810264e04 CLINVAR:633225 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1e1f6612-5726-48c6-b53b-389f5fffb6fa CLINVAR:423932 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2383c701-c67c-4730-8e2d-74bb7bbbf165 CLINVAR:423932 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 57bab774-f9e8-4314-9e02-8cc92f4cfd75 CLINVAR:802700 biolink:genetically_associated_with MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 322d8f9e-84ba-433a-a242-0633e97162af CLINVAR:802700 biolink:is_sequence_variant_of HGNC:7606 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen afb61539-b271-4f07-ab9f-0fe9df91eb72 CLINVAR:179260 biolink:associated_with_increased_likelihood_of MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 58ea6a28-6126-4dc2-9484-fb23be458ef8 CLINVAR:179260 biolink:is_sequence_variant_of HGNC:5173 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0dd312ba-a3f8-4994-899a-64800d0c0aea CAID:CA1139533052 biolink:associated_with_increased_likelihood_of MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen fc59ae24-6f2a-4536-98b5-12fd51fef681 CAID:CA1139533052 biolink:is_sequence_variant_of HGNC:5173 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e02ae5b7-9029-4eab-b764-6a14139d2cf2 CLINVAR:561252 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 09ba018e-f779-4ae7-b8e6-f663aa3998f3 CLINVAR:561252 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7d16bdd1-bab1-451e-b46c-0421ef1f5b5a CLINVAR:561236 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7ff65f9a-012a-445e-a04b-d9edb43995d9 CLINVAR:561236 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 632ff76d-4016-4674-9ba2-777f132acac1 CLINVAR:561256 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 08f93a15-0e1e-4d2b-90f3-3121e56ed076 CLINVAR:561256 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f472e1a0-e4d0-40b3-9030-8dec45c39a8c CLINVAR:561248 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e84754d1-2681-4795-981a-1246e84278a4 CLINVAR:561248 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6b053983-e25e-42bb-b6ee-e687f6ed4f29 CLINVAR:575051 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8fb5f239-1611-4c9c-bba6-66bd2b152b1b CLINVAR:575051 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 95ec5ca7-54af-40b5-ba88-01cc875dcbb2 CLINVAR:561223 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 39ddd5a6-26f8-42dc-b497-c76ecab222f4 CLINVAR:561223 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b6eeb2c6-e5fb-4ef8-8ac5-c4f29d291f73 CLINVAR:376021 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a7961ce5-224a-4e10-8ab8-019b50dc39f8 CLINVAR:376021 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3f81dd4c-c77f-4ef4-939d-abf1d1215f8c CLINVAR:561229 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 29b9488b-63e6-4b7a-8fce-2ab06fe16064 CLINVAR:561229 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0c423dcf-6fc6-4843-97d0-94d697603661 CLINVAR:561226 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2729fd8e-01e6-407c-9e60-bc5a156edb51 CLINVAR:561226 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 057593ff-0e78-42ea-937a-b3831f10390a CLINVAR:561224 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen fd0f58b5-f92b-49fb-81f6-f02beefca98a CLINVAR:561224 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 67f469df-3648-4256-8a66-f0a352d0a831 CLINVAR:376022 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d155d16b-0a34-48c2-9cee-8b3f60a624ff CLINVAR:376022 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ab1635f8-ef07-4313-b0f8-371b959082fd CLINVAR:376019 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c57199fb-5f69-41fd-87ac-917ba8ff1efc CLINVAR:376019 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5f5f4243-449b-4392-a9ca-d3cc2a237dd8 CLINVAR:376020 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 63eef766-b6be-4e86-801b-4f6f97dcabe5 CLINVAR:376020 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ff1304a6-f0ed-44c1-a33c-65f09c26cb8f CLINVAR:561244 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen cd283ab7-a46f-4d6b-9665-9e37acb4f3e6 CLINVAR:561244 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4b4bbc4a-140e-4873-91eb-05bc65d6ac17 CAID:CA16020802 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 308c1f78-1ef8-428c-b9be-a548f923ff5b CAID:CA16020802 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2d74fe81-8d74-42c0-88cc-8e1088093c33 CAID:CA386296833 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6cfedd17-f75e-49ad-9a50-29398c848ad6 CAID:CA386296833 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a3878f76-4b2e-4ad5-ba8f-c21fb6491935 CAID:CA16021000 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5b03cdd1-093b-4d54-951a-b5925f0baa90 CAID:CA16021000 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b9eb3a31-f910-4711-9f4d-9fd9a7af5ec1 CLINVAR:1065372 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 082528a4-8f78-49b8-a301-c021689fc4f0 CLINVAR:1065372 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f0aa24b6-1276-410d-ba53-063dec9b6f96 CAID:CA16020989 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e12e0824-b289-40f4-9cdf-1978793a45f4 CAID:CA16020989 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 831e0183-c71e-4fa4-bfe2-102a4a291f25 CAID:CA16020933 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 35cfd700-25d5-4e5c-8463-37dacf6c60f6 CAID:CA16020933 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 321e5ed9-ba4c-4ff6-9c8b-fd8e26cfb24e CAID:CA386299729 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9d63d8d3-be69-4e3d-ba5c-ef139d581127 CAID:CA386299729 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eab5d474-b869-47d6-b32d-b36b141ee9c3 CAID:CA386294521 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 941cb963-549d-415b-8092-32622f72b92e CAID:CA386294521 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d609f803-c4a3-4953-ac03-6e1a401379fd CLINVAR:225134 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e41e4d06-777b-4615-9727-9989ea95d977 CLINVAR:225134 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a87dc9ed-e962-4756-985a-9d1241da53bc CAID:CA386296582 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e5c595e3-634c-4468-b2bd-43d63e9cd15f CAID:CA386296582 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 998453c5-4a09-4f6a-8206-1d92bf2b811b CLINVAR:1065380 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b899df4b-c192-4efc-a984-c15a2125ebcb CLINVAR:1065380 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7fa3ab65-6bde-4d8d-b361-dc0116f5e5aa CAID:CA378924686 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 44151c62-c692-4469-b9b8-19fa4f5443a7 CAID:CA378924686 biolink:is_sequence_variant_of HGNC:5173 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen efb916c0-86ed-452f-ab19-f93c44229513 CAID:CA399806384 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 60547d73-d167-43ad-b6e6-86aa9c352721 CAID:CA399806384 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ea69db73-2acd-47f7-8f61-d8d4ddec9884 CAID:CA291224483 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c1c2daec-c768-4f1c-902a-7ed044eb3ece CAID:CA291224483 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 792b370c-a8fe-4961-9e8f-01a0be524286 CLINVAR:323867 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 14a52dee-333a-4ef8-afdb-506be3b436c7 CLINVAR:323867 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c19c582c-655e-4b40-9520-0801fda997e5 CLINVAR:631775 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4396f918-815d-494e-908d-66432fc8065f CLINVAR:631775 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 29797da2-259f-4769-86d9-f74a3c314993 CLINVAR:953020 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a36fbdce-a590-4274-a3a5-b1de4faa9be9 CLINVAR:953020 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a1c40b95-aa45-4b1d-8e48-56518849539e CLINVAR:426669 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1b6fe865-99ed-489e-b549-280c579ce1f7 CLINVAR:426669 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 787c2296-85fa-4d3c-a492-c7e23605aab8 CLINVAR:953003 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b11b9862-d4d7-4780-b729-2c51e7a19ae2 CLINVAR:953003 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e9ea5675-5769-4cde-a57b-238eff270029 CLINVAR:417956 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e2dcb875-4d34-4d8e-9c86-d403d55639f7 CLINVAR:417956 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f50a0df1-bfdd-4fd3-a675-c41e9f0aa711 CLINVAR:953059 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d437f22d-fadf-4a45-a8cf-9e7cabf62c8f CLINVAR:953059 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 61fd2567-6cca-4400-a81d-7b48eda88fd0 CLINVAR:695458 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 716bbe4a-2afa-4855-8d36-e4b5e2817aa7 CLINVAR:695458 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 00cfa641-924c-4e55-8acc-1e5561c6d542 CLINVAR:323870 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b151bb1a-ec34-4ba9-b619-867c892a78e0 CLINVAR:323870 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d9160ded-84d7-40c9-9062-46e41a09abc1 CAID:CA8602626 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c3e48072-82a1-4cb2-bf86-7dd6e93e1ae5 CAID:CA8602626 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1dbb2fd2-2a06-4321-8b12-d1d409d62879 CLINVAR:2901 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 30e7e0a8-2139-4144-ae97-a8a4324c2425 CLINVAR:2901 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 210be535-db0b-4cec-91d8-8ad255318876 CLINVAR:225393 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a2455718-bb29-4c30-923f-bc6fe876ca18 CLINVAR:225393 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 03cb2f0f-0ecd-498b-b408-579a817a549e CLINVAR:953015 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9d5880ac-289e-4c13-b165-e8ca9e83c961 CLINVAR:953015 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen daa2b74f-3cb0-4af2-a977-ead9d8a385cf CAID:CA913189226 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 678fa8e9-5913-4cf8-ae49-c867510bd1a1 CAID:CA913189226 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a3d98135-6183-4065-8749-20c85fca308a CLINVAR:2892 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e9597a86-7d3d-4446-b5ea-d8c56568af32 CLINVAR:2892 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e10140bb-c360-4cf8-b16d-d0caad82218c CLINVAR:953024 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 180daf60-62d5-4f90-8951-5d80e5eae972 CLINVAR:953024 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f3ba7098-3a4a-4c0e-becc-98f93a195a00 CLINVAR:953041 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ec5b53bd-d7c6-4341-a412-d1afbb9e5998 CLINVAR:953041 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 60b620e7-9d4f-47ce-aa1d-8f38f697412c CLINVAR:953047 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 823fde0e-5ecd-40cd-8f69-4b019a0f0a95 CLINVAR:953047 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 40325f99-c666-43b5-9b3b-87e8a8de9e75 CAID:CA399805421 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen bd0c4841-055e-4701-8ce8-886d20cc4de8 CAID:CA399805421 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 13d9bd90-7088-49d6-863a-5300fd9c2143 CAID:CA399805793 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7cd69ce4-65f4-437f-bfd6-ad6e50d0ac57 CAID:CA399805793 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8ab6527f-930b-4374-a466-80622f203a14 CAID:CA913184940 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen bce3e210-48d8-416b-adea-b0b34f1af3f7 CAID:CA913184940 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fcfbf64c-61bd-4fd8-897b-2d865cae3a20 CAID:CA399802411 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 87cfe8a3-ef7d-477e-bca0-65cb4728fe6e CAID:CA399802411 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e9de80e4-269e-4349-882e-fff3d047f74b CLINVAR:952999 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e4148d3a-ceb2-40c8-8d85-b5f9d3b07295 CLINVAR:952999 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 89cbd19d-564f-45ee-a30a-6a3dcf45633b CAID:CA658820875 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f25c8101-1f21-4e3a-8ad3-f69425afc65a CAID:CA658820875 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen be52d43c-ea3a-475a-8d5f-8aceb0b81627 CLINVAR:627066 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5b020aff-e65d-4280-9fa0-41c053da484d CLINVAR:627066 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8e01e23f-d74d-4586-baad-e46c202f9a2a CLINVAR:953043 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 117b3949-359e-491d-9d9b-bd42e28d64c6 CLINVAR:953043 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 761046a7-90a1-41de-b041-db58bf9e503b CLINVAR:13554 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 69ae1354-875d-4740-a262-3acfd6a74056 CLINVAR:13554 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f0a9aa3d-0510-4bbf-a903-71fbffa5d9cf CAID:CA290950376 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7d097566-b529-4623-81f0-8f077a7b676e CAID:CA290950376 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d76f12cf-9f28-4910-a57d-a35aa73e5652 CAID:CA399801310 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3b7329d1-4b58-4cb9-ab56-e2d29e270fa4 CAID:CA399801310 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 38c65b06-6026-48a4-a203-99855e53af7b CAID:CA399805557 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 35bd4e51-7769-4c0c-802c-60e4b9299236 CAID:CA399805557 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e58d2dbd-18cf-4934-b4cd-3d41071f714e CAID:CA8602528 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5a6b70d1-c48d-41e5-ba3c-9327eff447bd CAID:CA8602528 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen af02348f-2ff9-4019-96eb-e039c1138cfb CLINVAR:953027 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2b2db93c-86af-4c5a-9959-a38c957772f9 CLINVAR:953027 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen efcfb5c8-54cc-4596-886c-0e1e9e8d010d CLINVAR:953051 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1ce5fd94-1e3b-4c19-be08-65eca3f1dedf CLINVAR:953051 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 554844d4-6a71-4cae-837e-65b607921c63 CAID:CA399804619 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ce2d9aac-6e11-4582-97b8-d354bd454e9a CAID:CA399804619 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9c401ff9-8886-42d6-8ab4-87fda1b837f3 CAID:CA8623358 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen fa66eb4b-20ca-4659-8387-dfcb2802d284 CAID:CA8623358 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c694fff9-0a52-437c-a12e-f04bcf327f23 CAID:CA400028478 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ea4b3a9d-3e8b-4361-b080-d315783515a2 CAID:CA400028478 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7b5cd3a4-9468-4562-a512-8f8c5450fc99 CLINVAR:953040 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3d6d7d88-88f5-4664-ab4b-754c2bf41146 CLINVAR:953040 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7b6076a2-f769-41e1-8c02-6a06f489dec6 CLINVAR:812736 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen fe37b87f-31ce-4c11-bf9b-ff3140ad5927 CLINVAR:812736 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 51f7c70b-a48d-454e-95fc-f800f05ba73c CLINVAR:953052 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6b7b60f0-5e72-48d9-9a65-bf1edd9b585d CLINVAR:953052 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2e63dc8d-259f-47a6-9687-bea4f3e560a2 CLINVAR:953053 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 004438f0-2132-4805-b7b2-ddc695d1d603 CLINVAR:953053 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0f13e0eb-9605-4edc-ba27-c317b1676372 CLINVAR:953007 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 57a0ded9-4b11-4566-b1f3-d27116cfee07 CLINVAR:953007 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen db007484-5a28-4f0b-894e-9c138b0003b3 CLINVAR:952996 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 064157a5-3ae7-4833-b8a6-bf0471b072a7 CLINVAR:952996 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8ab6e2e8-fec1-4cef-9cfd-31a9012b78a0 CLINVAR:2900 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b14387fc-8c60-469a-9c2d-37c1f31ed12b CLINVAR:2900 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1af7babd-7190-4d8c-adcf-1526aa139df8 CLINVAR:569057 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8d17e6e9-1667-4726-8c65-9bc350da4795 CLINVAR:569057 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5846569a-becc-404a-ac76-2aa2090f145b CLINVAR:953008 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 84789943-6150-417f-8bcf-ac3bfb441504 CLINVAR:953008 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 78d75ee5-f5e1-4796-a391-c5c11feaa553 CLINVAR:381747 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4f6fd954-ba5e-4b9d-862d-e1011393d9ae CLINVAR:381747 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 78a46f1b-30e5-4f73-b1b8-1d09203d9000 CAID:CA399802424 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7fab3e2b-0196-49c8-a544-8ac44dd14a45 CAID:CA399802424 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a6a30c0b-564d-4658-87b8-d5c664030937 CAID:CA913189170 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b62648cc-aeba-4a47-ad51-f5c4c905dd61 CAID:CA913189170 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 016159f4-29f9-4111-894a-c6c6a07ee37b CLINVAR:953004 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 59b2432d-9a62-4229-8295-fd620e494db1 CLINVAR:953004 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4835bf37-8aa1-42d9-8095-98e7b8e8cd65 CLINVAR:953001 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ab62a8be-c81f-4d27-a093-87166fae13fc CLINVAR:953001 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 13256d6f-c360-49d7-8554-471328c2fb9b CLINVAR:953005 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 943c8e9b-9631-41e7-9151-0c6a6d4260ae CLINVAR:953005 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 320a1fa4-68b7-4611-98b2-a5e8ccba9136 CAID:CA8603457 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 193d74e3-8dd3-43c1-b1ee-b78f7a9baca3 CAID:CA8603457 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6bd40394-e31a-41f2-9241-c6727900a732 CLINVAR:631774 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 25c6499c-1661-44e1-a344-e58ac95d1faa CLINVAR:631774 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 648bf48d-6900-491f-878f-557a1e202607 CLINVAR:953061 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ce4360bb-c790-419f-8c3d-bf59337b8a10 CLINVAR:953061 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a9de1c5a-0d5c-481a-a9dd-5ca47ee4b455 CAID:CA8622899 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ebb2ceea-89c8-412a-bb2a-bea3ed6f22a4 CAID:CA8622899 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cecd51e6-52e4-452f-877c-5f8bd6e400f1 CAID:CA400033055 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8c53490d-6bb8-494e-a7c1-f761237048e5 CAID:CA400033055 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2d50e293-5e1b-42a3-93ef-c963eff58a55 CLINVAR:953010 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8b901f47-983d-4aaf-b5eb-f232fc920739 CLINVAR:953010 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e925047c-462a-4e51-a383-ea950dfdac49 CLINVAR:953029 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2ec4a3d5-0dca-4953-b311-399c3e56cc9f CLINVAR:953029 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8d4e637c-2490-451c-803e-b7dd70e5722f CLINVAR:953018 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d248f07d-f18d-4ee6-bea9-2324eb978837 CLINVAR:953018 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 00816b36-3eb3-46b6-a74c-2b42c1cfde0a CLINVAR:996156 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f75581f4-54ea-4819-ae74-783945b173e5 CLINVAR:996156 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5b70a3e0-5fa1-4e54-aa6a-c9e89087dcb7 CLINVAR:2895 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6b890fdd-d0e9-48f9-b2f2-6cfe1543388c CLINVAR:2895 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0c08e2c3-4943-46f7-8c75-ae7f2ee1c3ae CLINVAR:996168 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6db252c1-abfd-466c-99c7-bcd72e0c388f CLINVAR:996168 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ab301c4e-005d-4f93-b731-38b052461c38 CLINVAR:996169 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1cf7cafc-62e5-482f-9650-2dcb6c452fad CLINVAR:996169 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 013ac113-c79d-4dad-a239-51bbef3fef15 CLINVAR:996170 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a5a7ca66-7e41-4da7-b9f2-df59d948ae45 CLINVAR:996170 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e222da22-7a0d-458d-a940-e109d3265a3e CLINVAR:996171 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 67799656-1841-459f-ad87-83c1abc0fadb CLINVAR:996171 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d8e0f1f9-9416-4e96-91b4-dfe55cad962e CLINVAR:996184 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e76facae-e368-407e-8a70-883b4ed417d8 CLINVAR:996184 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 91f8000f-d69b-4208-91e3-b1eccd834cb7 CLINVAR:635 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3e161397-5cf4-4bd6-b27c-341aec6f89d5 CLINVAR:635 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0ea066d0-03f2-40af-bf49-e65d6165997c CLINVAR:638 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9ee8f69b-b5d3-4cea-a0fb-d3b6508100ac CLINVAR:638 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 00e6888a-eea9-4c37-bc13-9c7d8630a85e CLINVAR:928885 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1832a5de-202c-444c-9878-285d81d9aa3b CLINVAR:928885 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4e2a114e-0081-4ad9-a845-ca9c5a9e2b93 CLINVAR:552657 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen fd31e4ca-dbca-4057-a137-6039cf79d5e0 CLINVAR:552657 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a35bc038-7c4f-4cee-9d5e-3d5666a9a5ee CLINVAR:551103 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1091fb18-e043-46b5-8aae-282111874369 CLINVAR:551103 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b38bf680-7081-48d6-8457-1cbc736a2e5d CLINVAR:102602 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ee34e5ca-b908-4251-8406-3e55306e71d5 CLINVAR:102602 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 298c32dd-975c-4507-9933-467de8017f76 CLINVAR:996175 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2d3c14f5-af29-4c49-ac4e-8301afb146d9 CLINVAR:996175 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ecb3171d-2d6e-488e-a88b-fd24331ca805 CLINVAR:627218 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen da12ebe0-84d7-49c9-898a-36b9ca47eee8 CLINVAR:627218 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e2151e9b-ac7a-4989-b9c5-117d384f740e CLINVAR:996178 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0f39f459-b54e-44ff-925f-48603467b389 CLINVAR:996178 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a31fb999-90d5-4d2c-982d-a3d0449347f1 CLINVAR:996159 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 878a2efd-d7b8-480b-88e9-610bc8f1503f CLINVAR:996159 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 63d0279f-872d-4573-96a0-36d7688ded93 CLINVAR:996165 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e4e4bd62-bcb1-4d48-adc0-8e7caec29e46 CLINVAR:996165 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 117ba613-2b93-4adb-b85c-c2f61c7a63e5 CAID:CA290949843 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9521cce4-ae7b-4cab-a170-7fe599b938b9 CAID:CA290949843 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 390c10ca-205a-4d7e-944e-a9b5fa384a73 CLINVAR:2893 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 67e4508e-5ec3-4280-8895-d46e13cd0bb2 CLINVAR:2893 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 050ea2e0-263c-41cb-a286-d57a26cd2618 CLINVAR:996176 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 099e94c9-1257-419c-b89e-136c159dc328 CLINVAR:996176 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3393cf27-d46a-4ebe-8455-364bd166b2ce CLINVAR:996180 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4a9e8abd-74db-4ed6-a511-15559dfc17c7 CLINVAR:996180 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5dd183e6-bd90-4b29-93fb-1e4880966a8d CLINVAR:996172 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8efc152b-d14b-462b-af54-90aa701374f5 CLINVAR:996172 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 318d2386-6708-4e0d-9f02-88045b263375 CLINVAR:996161 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b0ec61fa-b909-42dd-be27-1371388c7974 CLINVAR:996161 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aff12f2d-fdba-4bd6-afba-4b6a3696769b CLINVAR:996173 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 897d7686-eb5a-4147-8784-67eeba7e6c95 CLINVAR:996173 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 24b8fa3f-065c-4184-884e-c498d66fd2e1 CLINVAR:627131 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 64a6d507-41eb-49e2-a3be-86ead4fbf264 CLINVAR:627131 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8cae036c-e5d6-4c2e-a797-902a348d41ad CLINVAR:996207 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a6446abc-813d-497b-897e-5a5591b5b81c CLINVAR:996207 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a20902cb-9933-4530-a3c4-9a6481782384 CLINVAR:812735 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4597dcc6-2c0f-463b-9605-e85cf8952b3f CLINVAR:812735 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6301516f-19b2-4145-b641-5d73c17034c1 CLINVAR:323868 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b76061ca-96e1-4145-af10-10a517ddea83 CLINVAR:323868 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 88c947cd-d119-40bb-be17-bdd56797f93b CLINVAR:996177 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ad9f30a4-ac9a-4cf6-9f6a-b1513905b968 CLINVAR:996177 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1abe4f38-05f4-4824-9cbe-d27dfacb4b0b CLINVAR:50233 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen bc2107ae-0bab-452c-bd4f-3a2f7aa022bc CLINVAR:50233 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e80aa9d5-a3ae-43e4-856b-d821f7803b49 CAID:CA399798321 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen febb4090-af93-4343-afda-cab1e761f3a0 CAID:CA399798321 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 85bbdcc9-e64f-491d-8a22-b794e5839ee5 CAID:CA400032726 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 13243347-5ede-43be-b4f8-b898f9b2968f CAID:CA400032726 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7e7c7844-8cf3-41ab-8771-84cf1b6e483a CLINVAR:996187 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7b913e18-0b97-4be3-aa91-dc6e83e2f4e4 CLINVAR:996187 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e1f82ea7-7784-4dff-b639-8a8631de5ee0 CLINVAR:953045 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b9ab782c-150e-48c6-b630-c86387e14db5 CLINVAR:953045 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c574200f-78ef-46de-93db-d28d5cd48c37 CLINVAR:996160 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3e104559-beaf-4182-8c98-c77dd0c77a1c CLINVAR:996160 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b266ddc0-cc80-4eac-a3bc-760f1b93ab0a CAID:CA8602986 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d5a9bcb3-4749-4fc0-94b5-f187a10e6564 CAID:CA8602986 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c5eb8e35-59b1-46c7-8add-eb782da5840d CLINVAR:953034 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7444e866-3fd7-4056-a2fd-a4ee4a4e0baa CLINVAR:953034 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f2cfad76-f6ff-47a8-a72e-17ac9eb1c91e CLINVAR:953021 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5b5152be-8ec8-4ad3-96fb-745c2b50726d CLINVAR:953021 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3865ff4c-23c0-43d4-8ba7-dffa0d8b7998 CAID:CA290949031 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 78e5c6e4-520d-4db5-ac33-ad6d9466d935 CAID:CA290949031 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f8be6ab6-ca44-42ec-9556-711d72b3296b CLINVAR:996190 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e7416dcd-0b0a-4400-9fc8-481b1a33a0ef CLINVAR:996190 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1087bb33-c373-416d-8778-394fe3dbdbcf CAID:CA290955739 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 25780db4-ec57-4d52-a549-a078966cdbd1 CAID:CA290955739 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2468233c-f509-4b44-ace6-69ec61658c24 CAID:CA915940289 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen dcbbb482-984d-407e-82f2-62b8250423f4 CAID:CA915940289 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1c8e43d8-20a8-4b66-b03d-6ac41e54b754 CAID:CA290948990 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4d79a4fa-2f28-4a3e-942d-2a1c0af9fe05 CAID:CA290948990 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8055674e-e453-4dbf-a4e4-d29428053873 CLINVAR:996183 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 857e17fd-8a92-44da-905d-364c72a3db24 CLINVAR:996183 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7a2102c6-d089-4f6b-b75f-418325771afa CAID:CA915940315 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7948044c-d2be-46a7-aeaa-aa7d117d8510 CAID:CA915940315 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 695f56e3-5411-4bc8-988a-fbae3a83bdef CLINVAR:996212 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 46a542eb-9b9e-47fc-98c6-bcaed539a03e CLINVAR:996212 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 529a9420-8715-4bcf-a65e-8c1a2b148eef CLINVAR:996202 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 25738833-7654-4f3e-ad75-36f7511ec483 CLINVAR:996202 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 10fa7b89-6e51-4097-8ec4-7389a3844d06 CLINVAR:381748 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8f324dc4-3ee4-4443-8a0e-5b4171bf7871 CLINVAR:381748 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 29add68f-ca03-43a6-a617-69e1dadb5113 CLINVAR:996174 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d3902f6c-e33a-4844-b47f-414cf66d61cb CLINVAR:996174 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ba3eb6d5-8ee8-48c4-a788-219cf4971632 CLINVAR:953057 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 599ab6de-c72a-4817-99a0-e98ae416999d CLINVAR:953057 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ddc795a3-7cf9-4df7-8b26-6ba9d9af13f3 CLINVAR:627299 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3668e7c8-72cb-416f-a486-309b6cc44b68 CLINVAR:627299 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3f04f543-b69f-45de-87f5-5293426d3343 CAID:CA915940790 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4df4911c-ca0c-48c1-8c5f-59a5e73ebea4 CAID:CA915940790 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3d60138a-67f5-4e65-bd6b-350cfcfa88e7 CLINVAR:953030 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 74385ccd-18bb-4c77-ba42-a5bd8a357593 CLINVAR:953030 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5d6de05e-e918-499a-b84e-4530cbcc0df7 CAID:CA400032825 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4de670e9-b2be-4c45-8fde-4f260ecb98a9 CAID:CA400032825 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a689c824-b01e-442f-a117-bcdd52772f27 CLINVAR:627103 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4fde3130-cab4-45e8-ab37-e06ff0d4b2de CLINVAR:627103 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4ba381e5-5aa9-4d29-8df0-734151a8060d CLINVAR:996158 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 30814596-f567-40d4-a5bf-d2475daf0a0b CLINVAR:996158 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fac39b51-91ec-4c36-8b78-8f43780705e6 CLINVAR:953014 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 80ac35c4-c1f3-4833-8436-0e01a7f33f1e CLINVAR:953014 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c3fbfe92-a1c6-4fe0-92ae-3546ec993991 CLINVAR:996201 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 154d053a-a948-4b4a-9b1a-a0c4b7ef5a1c CLINVAR:996201 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 287f9719-2392-4c7b-98a7-2e8cfb0656b0 CLINVAR:996203 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5b95f4ee-0604-490e-b29c-0fab686fc6a9 CLINVAR:996203 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4b5763b1-0fbc-4d1d-b221-edb26ec17365 CLINVAR:996208 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen cea9497b-3f35-48c1-962d-9da301976480 CLINVAR:996208 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ea6f875b-df71-4043-a1d3-d6d116ebbdb3 CAID:CA8622852 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e0491a9d-1f5e-4783-ae27-cfc64e938f96 CAID:CA8622852 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 94cb9e67-4fac-4a08-9146-61f5368027de CAID:CA400020703 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen bccdc0b5-397d-4fc8-83f0-2daec79557f7 CAID:CA400020703 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 428aa149-fb95-4fb5-95a5-dd82c2653e7d CAID:CA626224450 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a75e347a-62fb-468c-a877-c241338f9772 CAID:CA626224450 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ab77f319-b15a-4ed4-92ef-a13c91e12c6c CAID:CA400025022 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a9833add-22ab-4e45-aab3-f7e9e92dcc39 CAID:CA400025022 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d4a86d19-5bb8-43fe-9aaa-65b1e2eeddf0 CAID:CA291224887 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 810ab6b4-3157-45e6-88fc-e986232d744e CAID:CA291224887 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c9dd9125-0127-467e-b231-77935a15505d CLINVAR:626993 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c8d3ff42-c4b9-41d6-8d97-a5a14e6dcb6c CLINVAR:626993 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 85626891-75b4-4b25-b950-c97729670c82 CLINVAR:691627 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 27036b7a-4e64-4cae-931c-84e736113969 CLINVAR:691627 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 01af7f2d-d492-44ce-a183-2387f5e3d8cd CLINVAR:996181 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c2c59827-78dc-4278-9236-dae7e83599fc CLINVAR:996181 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 24a572c6-3d07-4a50-a2cc-d940f8158855 CLINVAR:50232 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 01d2e16f-8aaf-4e68-bfab-6c8ddb34a083 CLINVAR:50232 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1981df0b-ded6-4752-aca7-f02750a5181a CLINVAR:953039 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 18e32349-2c65-4a79-83d1-00372a7c085e CLINVAR:953039 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 175a73b3-8cf7-4348-a9e6-088af25a6244 CLINVAR:626927 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4ee99713-075d-4ab8-9fe9-76795c7cbc33 CLINVAR:626927 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c3bc336a-b62f-4ecf-b936-271b74afe0c9 CLINVAR:953058 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ef43a5a5-eae6-47b7-9c07-5e6594c09b78 CLINVAR:953058 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7dc1e17e-6037-46aa-a4e3-26867b6c3160 CLINVAR:953035 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2af3d42c-ef44-456a-b0c4-c267c0a8ae18 CLINVAR:953035 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3f50c851-4251-4b91-8d81-247ae80d4871 CLINVAR:996166 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 86c76702-6de0-4c5c-9ce6-2c05d2ec536c CLINVAR:996166 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7a83dda5-4ffc-4982-ab3f-d156a6f79a0c CLINVAR:953036 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9caf6af1-bf14-43eb-b219-ccc47ea53b05 CLINVAR:953036 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 588d18fd-b6eb-4527-8a1e-896578202a03 CLINVAR:996189 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0f380823-6468-41a0-a6e4-411234580599 CLINVAR:996189 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d07d9dfd-c647-4209-886a-27e63eaf038c CLINVAR:996182 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2d83542b-c184-4686-a2d1-bdfef2685712 CLINVAR:996182 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cc65cf16-1226-4eac-abc5-1831705f833e CLINVAR:996200 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d8dc1d11-d66a-463d-b364-da645e5e3c26 CLINVAR:996200 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f36063d5-4e84-464b-bc04-0a565fbbdbbf CAID:CA400023596 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e5a9a18d-ccee-495e-94ed-0ff47ac3ae0e CAID:CA400023596 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 36b8672d-10fb-40fe-9657-ee5d246427a0 CLINVAR:996205 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f3695f9a-3fba-4762-8d71-5b1b512cea36 CLINVAR:996205 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a22403a8-ec2d-4199-8446-047f3322a254 CLINVAR:953012 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 322a4f46-f6a2-469e-a964-14ab63e923eb CLINVAR:953012 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1a37a9fd-aa11-4d4e-82c3-ea348d4640de CAID:CA290954352 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 10a89c1b-ccf8-42f4-8729-641074ad42e8 CAID:CA290954352 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 81a53025-621d-483a-8fb9-b3815c68696c CLINVAR:953038 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1771e8fd-50ed-40ce-898f-1c93ba4314a7 CLINVAR:953038 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3183abdb-e15b-44fe-ad9f-22bc9920245a CAID:CA399805155 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 729243e0-b392-402c-b7be-a7b33bf541fe CAID:CA399805155 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cdf5ceba-c05c-49f3-9916-74443a47beb3 CLINVAR:73556 biolink:genetically_associated_with MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 54f1f9d1-33ec-43a2-b48a-57b126d7de7d CLINVAR:73556 biolink:is_sequence_variant_of HGNC:12601 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d3795219-5435-448d-8605-cd740b9a88f3 CLINVAR:203872 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 15c27fa3-6dca-47fc-86d2-81c952617fa6 CLINVAR:203872 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3db0c3de-a70c-4664-9ae3-b5e06d051e83 CLINVAR:883981 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen cd8560e8-72bc-4516-b41b-5834e2b49335 CLINVAR:883981 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3bf2f8b2-680a-45c4-93c6-001c07df8e09 CLINVAR:620 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen da02f97f-c4a6-4b51-90f3-81e62c931dc8 CLINVAR:620 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2f226da9-8468-4bb5-9a80-84d9847b4fee CLINVAR:102914 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d783db54-a430-40a2-85d7-ea0862330c52 CLINVAR:102914 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 78abf512-ae18-42f3-811d-585b186c2ef8 CLINVAR:102517 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8f4676b8-60a2-4f21-a0a1-5daf2461df76 CLINVAR:102517 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 345164be-6f38-497b-aac0-c000b56b5b21 CLINVAR:102794 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3c28efca-293d-49a4-baf8-b8f5316d2e66 CLINVAR:102794 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 45295850-3074-473b-a7ef-18bb953f3341 CAID:CA1139533026 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4e428ce8-d7f6-4a86-96c6-4a58b9aaa114 CAID:CA1139533026 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7bbffcc1-5d63-4cab-b06b-28b2d448e404 CLINVAR:102508 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 60cc1087-8254-4110-aaa4-fd759cf678ff CLINVAR:102508 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0b345a38-8e46-470d-ae3d-f90c0aebb1d8 CAID:CA645584081 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 17fb5933-9192-41b3-82c6-b5f02e51ea01 CAID:CA645584081 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen af5bec2b-357a-431b-87f1-c34d4409d8d8 CLINVAR:558091 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 113862de-5213-4dec-9c36-ab8ec07a633c CLINVAR:558091 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5f1fda07-9f4c-4125-969b-d3a5385e42b8 CAID:CA16020897 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 857b9620-4f47-4395-b43f-4c50995fdea7 CAID:CA16020897 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ae77cb89-fd63-43b0-af28-91d8f6fc212f CAID:CA16020853 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ca245c13-0530-4488-b799-528127bf5b8a CAID:CA16020853 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 16d9c9d8-89b8-4c35-ba1f-77f9bfa1cfc9 CLINVAR:102501 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 32bdfd69-35ec-47cc-bd01-bd7e40cc3310 CLINVAR:102501 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 735521ed-2956-405d-8f68-72e7d33fa81e CLINVAR:590 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7c2f041f-d432-4d16-b951-a58186fbe7eb CLINVAR:590 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dfbc677c-1640-45e6-b810-6a335b51ae47 CLINVAR:446524 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 52f9e49b-4c14-4af8-8da0-6441216f280e CLINVAR:446524 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 94e79bc9-bb19-4dbe-9b2b-7247adb4be64 CLINVAR:120290 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8f2ca242-5fa7-4ce7-ac9d-acc95d90c132 CLINVAR:120290 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f89b6e60-4f68-48c8-aa5d-2387aa49e7e2 CLINVAR:102883 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 14dafa71-1578-4dea-8a21-f8e5e450be32 CLINVAR:102883 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 883be640-0f52-4b1d-a071-9ae86fef14c8 CLINVAR:12969 biolink:causes MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a47702eb-c15e-441a-a9d0-333e6ab8104c CLINVAR:12969 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cb255764-e0ec-4ad5-8402-c09a25f877b1 CLINVAR:12993 biolink:causes MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5667e98c-ed4d-4b99-b707-3e58bb12d9ca CLINVAR:12993 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4f844fa8-0e6c-427b-a998-1b98fe194094 CLINVAR:133101 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ce3fba12-6253-4329-9840-6606aeabd33d CLINVAR:133101 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c5b32821-a79a-4b9d-bd12-ad268c34041a CLINVAR:133108 biolink:causes MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d0001f67-08bb-473c-a10f-ec1513d4fbf3 CLINVAR:133108 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen abe22fe8-edea-46c7-8eee-6f761b3380ce CLINVAR:133193 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6512fe1c-b858-46ae-a0e7-347ecc9518c0 CLINVAR:133193 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bf6446b4-3f1d-47e0-aaf4-a16818b28132 CLINVAR:133207 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 29d1093d-3c50-4289-a886-2c7c81972069 CLINVAR:133207 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 53b069fd-3a5b-4f56-9d37-4640bca58734 CLINVAR:161371 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 169fe805-efb1-4f91-b0dc-327e44a04261 CLINVAR:161371 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0cb8d901-9dc3-4f02-a229-43dae713f053 CLINVAR:1214007 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d9156400-39ca-4eb0-bc87-c3ac2222f76c CLINVAR:1214007 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 51501230-00f9-4321-82fd-6b3e12d23576 CLINVAR:133117 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d88c1cb2-06d0-44ad-b164-bc425690a67e CLINVAR:133117 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 45bc7d18-48f7-4f39-932b-111d45d7c3ba CLINVAR:133094 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen eaa6b9d7-8a2b-4a5a-9298-ee432c6d5d18 CLINVAR:133094 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bd297022-cb1e-4333-b934-11a9cc5e016c CLINVAR:133204 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 397cba63-1baf-4cbe-8487-0ad73eb9a60c CLINVAR:133204 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a8c4ea3b-4caa-4b16-9316-060bfe069751 CLINVAR:573252 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1cb8ab22-577a-4f54-8994-3f1f20271f91 CLINVAR:573252 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a679536f-9c51-420b-9767-353f0b7cbb78 CLINVAR:635269 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4cc6e440-7f0d-47bc-98f2-cd6e27ec9edd CLINVAR:635269 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7739a3b6-eb4e-4913-b5c5-c7cbe2b867be CLINVAR:133242 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen bed3e8a2-d349-41cb-8ae5-37f9d3b954ee CLINVAR:133242 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c154d6f2-1546-4a0c-b3ac-c94e996cd94b CLINVAR:65927 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e25ed79f-e168-4e47-8fff-5e7972242035 CLINVAR:65927 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0ed3e519-61a7-4538-83c1-016b67627dc4 CLINVAR:133030 biolink:causes MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f8f27600-b76e-4f36-8471-f320278075d5 CLINVAR:133030 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen af27e3fb-972d-4d3b-b0f7-a41259ba4c1a CLINVAR:161374 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 39e8c983-e5fb-4699-b9bc-fc223ba4d175 CLINVAR:161374 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 45c2e158-cc5d-4cca-8f05-5af61be966b8 CLINVAR:133099 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 098fc2e5-f50d-44bb-8538-cc511497beeb CLINVAR:133099 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f93a577e-5204-422f-bdc3-76edfb7ff1f5 CLINVAR:133182 biolink:causes MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3d7b5aba-fa30-43d7-bc99-a81050a71d03 CLINVAR:133182 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4cea7b41-1d8f-43d9-87a7-1d2e8f025450 CLINVAR:133102 biolink:causes MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0d3a7605-6f04-4d33-b4eb-317919b98cf0 CLINVAR:133102 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2be5995c-02ab-4b44-88c1-5a4b1859829a CLINVAR:133245 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ccde48e4-7e15-445c-b6b0-52db6bd9073a CLINVAR:133245 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 246dc5f9-4c8c-463f-82a2-25b2dd10ac05 CLINVAR:12964 biolink:causes MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f5634427-71dc-4749-9cb1-05013ccfde29 CLINVAR:12964 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2d9cc8c6-4880-41eb-bdaa-d68d33e03667 CLINVAR:133147 biolink:causes MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8e698260-411e-463b-8843-3c3030912918 CLINVAR:133147 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 80fb65aa-624f-47eb-b666-a98674382d28 CLINVAR:329061 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9510402d-16fa-4924-b229-14a25d5185d1 CLINVAR:329061 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 881f3267-83cf-4616-9e2c-729d33c0b005 CLINVAR:133133 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen afd04870-fa55-428b-9e67-97ee04451c7d CLINVAR:133133 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 97c1c23c-33b9-45ba-97ed-71a9c9dfa82c CLINVAR:133004 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 067c2808-fee9-47e0-a270-071c5b0b7932 CLINVAR:133004 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 515225d1-619e-47ab-8aa5-04550f71bc20 CLINVAR:133132 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen cefc871b-cf45-4860-bed7-fe982ccb3c88 CLINVAR:133132 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ddb6dd25-0fdf-4c30-acb4-2246c28b7682 CLINVAR:133171 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 27f9ebd1-8a25-48b4-869a-d51b34463118 CLINVAR:133171 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7d103f55-6887-4550-87f9-911d0cd4c268 CLINVAR:65984 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen dd6cbe64-f9ab-496c-af48-3897e265a683 CLINVAR:65984 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7c6ffd68-be04-46d9-9892-e99a66cbcda3 CLINVAR:133136 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen dc2a2ef9-2c3a-4a6c-85ed-3908d20a99e8 CLINVAR:133136 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 626e25eb-9b3a-4ade-ac31-cef718a3ff88 CLINVAR:65953 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7dbb9b30-1171-4ac1-b56c-ac99b4d508a4 CLINVAR:65953 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ce198c76-751f-46b5-8521-b8ad2fe52fbf CLINVAR:1214004 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 78d1c790-c943-4685-8bd3-6c6e00d17122 CLINVAR:1214004 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8a3759a4-d5ce-4f92-8ff3-2c2e22065b25 CLINVAR:12973 biolink:causes MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen cce103a3-eb97-48e6-acb9-85ec5ffb2c9f CLINVAR:12973 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 108f149d-55b0-40d8-b926-7cd521aec2ea CLINVAR:1214001 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2526905f-20bb-4ab1-9ba9-2316e0d16be9 CLINVAR:1214001 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f37c7d03-6552-44e0-80eb-a37b382b9e2e CLINVAR:133003 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0a9932db-5129-432a-b2a1-86240d361082 CLINVAR:133003 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cd23484c-1306-42b0-a1b9-32f9fa9c2232 CLINVAR:590508 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ae192b7c-6c1d-4750-8ac6-8c5170ca12f1 CLINVAR:590508 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen da4143d4-1c2d-42d2-b108-5ba7caedfed9 CLINVAR:133139 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3b4f2da5-7c9d-4273-a423-fe37ed730fd2 CLINVAR:133139 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f199f11e-df15-46f9-b608-419a405ae755 CLINVAR:1214000 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 89357e24-fdad-4620-a29d-c83b395152bb CLINVAR:1214000 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f58ce263-4e48-4783-876b-d22baab5323f CLINVAR:1214008 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3e48a618-67bd-4c42-8df7-632ba683d9ea CLINVAR:1214008 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 982f9f40-a149-415c-a46d-638277dde663 CLINVAR:590585 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6296cfb8-bafa-4b9e-8575-63f5e3a8be85 CLINVAR:590585 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 11ddb2d3-dee6-45ec-8527-563425d681f0 CLINVAR:133045 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b197ace7-2e61-4975-9116-ff32c45456d2 CLINVAR:133045 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 475a0ff5-6c54-4945-98eb-bd53359a061e CLINVAR:133122 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8d4f9cb8-ec0e-40f5-86c4-3ff0be16a12f CLINVAR:133122 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 651473da-06c8-499d-b05b-6173afb077e9 CLINVAR:133076 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1969997a-9df1-46af-babb-d934d6be3262 CLINVAR:133076 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fc0890f6-bd45-4fe6-b762-c9090018392e CLINVAR:132995 biolink:causes MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen fa43f026-7ea6-46c3-8b69-910b0ec31660 CLINVAR:132995 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ec78e4a7-7d43-491d-a5d5-47bf2e32f882 CLINVAR:133141 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0736fe1a-13fb-418c-b531-de6712d343dc CLINVAR:133141 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f19f90c3-a0b4-4e95-b7db-2c60b7a19b96 CLINVAR:448182 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8dde30ee-02a9-46d0-99d4-14cf0278f2d7 CLINVAR:448182 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e928752d-8bb9-47c1-bb58-fdb60fb4ae90 CLINVAR:478267 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e1bfb171-35be-4868-849a-48620deed86a CLINVAR:478267 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dd41f848-e9de-451f-ad95-e590ad30332a CLINVAR:133129 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 95b66a89-c818-40ed-b4c2-e37722f5b6c8 CLINVAR:133129 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 064f3cbe-7a2e-4487-a9c5-f42983196341 CLINVAR:133103 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 77bc0400-9177-496c-87be-1f45d9d32d74 CLINVAR:133103 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f04891ed-45d4-4700-960a-c2984b3960c0 CLINVAR:132992 biolink:causes MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 962c6798-2a6e-4390-bf6b-d6a842368fca CLINVAR:132992 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c9e5d510-2169-4366-bb2f-b4b53b4afddd CLINVAR:1214005 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 921bddc2-926b-489e-aa56-dd4a30e331c2 CLINVAR:1214005 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 527b1cb0-85d1-4a36-b59a-ff3509f191fa CLINVAR:133137 biolink:causes MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen dab9baaa-ee52-41a6-8bbd-ab70a40804ff CLINVAR:133137 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4ab8cdef-2466-432b-bb05-2a3d8c4d1d97 CLINVAR:65932 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c0fdea35-4a4b-4bec-af1b-efcc2c405ad8 CLINVAR:65932 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 958a3d0d-1841-4afe-a55e-9c5bafe580a2 CLINVAR:478260 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1167689e-d8f9-48a6-a7fa-89927b8891d9 CLINVAR:478260 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 86bfd9d5-7136-4599-bea9-3d63f540ca0b CLINVAR:133170 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b681c805-26e1-4d16-a8b5-6a1b6f508155 CLINVAR:133170 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b082379d-df27-44fa-8b46-6e23b1fb58e8 CLINVAR:65993 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen abe3ecdf-59b0-4c78-804b-57c5e3e36cec CLINVAR:65993 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4ae828ec-c0ad-42d6-81e5-15beaa23f2ed CLINVAR:159840 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 233e1783-119c-4a8d-a72b-21a701a64f36 CLINVAR:159840 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen af648671-ece1-4196-a9d3-aa9128defa10 CLINVAR:133140 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen af392daa-3f4f-44dc-8fa3-ed548df63cd9 CLINVAR:133140 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3234f3e9-fbbb-4a69-9819-99d874c8a40d CLINVAR:291315 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fbab6570-4850-47aa-b9de-6c06e599195d CLINVAR:291315 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1370b8eb-ef6a-4ac1-9d5f-7f517c26848e CLINVAR:1214003 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c629930c-18df-4002-9b82-a2a9467c3a77 CLINVAR:1214003 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2af7b64a-9d59-4b8a-a0fe-b186de920cc6 CLINVAR:133046 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen cbcb6792-9b73-4ecb-91c1-200f6bca23af CLINVAR:133046 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d7674c8b-21b6-411c-bcb9-19cf2a2cfb9c CLINVAR:1214002 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 965e1088-756f-4f3d-ba89-04807e7187f0 CLINVAR:1214002 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d9212f3c-642c-4a94-81da-607793f32ace CLINVAR:803553 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 04c4986c-c48e-4f95-8e94-da97053d3c6e CLINVAR:803553 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b9d768a4-84bc-44fc-9029-cdd782a52171 CLINVAR:212100 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0a6f1d39-edcb-4c06-aa9e-98fdf1f99da4 CLINVAR:212100 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 01db0aae-ab42-4c22-9bae-afb103290975 CLINVAR:55831 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f0c8969e-0994-4df7-b306-91321d9f7c47 CLINVAR:55831 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6d76def5-75b2-414a-9494-ef0eb7b641b6 CLINVAR:133096 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6d6a467a-296e-48f5-9a6c-dfd7391aaba0 CLINVAR:133096 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7c8184ee-f320-445f-b821-a3f7a5af6ffc CLINVAR:102859 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 21bfc899-9833-4f75-a0cc-f1dc60ef4f0b CLINVAR:102859 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 92b44f74-f54b-444d-a6ef-d38858e957d9 CLINVAR:102727 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen cb3e1f04-e1b1-44d7-a87c-8f3000fa0c43 CLINVAR:102727 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e327120a-3344-4fd8-bf23-d237cd15cccd CLINVAR:664621 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5e1c2ce4-89aa-4dac-8447-18afeff8b398 CLINVAR:664621 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6c9b6a98-01dd-4e93-9014-f3a713d6179b CLINVAR:102738 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6600126b-a64f-4801-ad97-3009e19a3453 CLINVAR:102738 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 46c84331-9b52-4a48-a181-756884c6352c CLINVAR:102878 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e9540323-d58d-4ee4-9c6b-fa7e0151b8cf CLINVAR:102878 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ad5c2af5-cfcb-456d-9317-661c963e5fee CLINVAR:102890 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 68aba4d9-fc0e-4487-85f0-875b12090188 CLINVAR:102890 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a9d27382-cd6f-4bc0-a0c7-3923bcad0b72 CLINVAR:102464 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 467b65d1-8d0e-4a0f-a171-b96d2611712b CLINVAR:102464 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c2beef6d-b97b-4a22-9daa-deda87c652d0 CLINVAR:102917 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d8f06ec9-1c01-4f7f-862b-30bb0af1e85d CLINVAR:102917 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f4eb5c14-6686-49a7-90f0-f3b35238933e CLINVAR:282842 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c90faeda-acbc-4de8-86b7-4df8a1fb61fe CLINVAR:282842 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a53cfcc0-7222-4002-9e50-9482a8ceb263 CLINVAR:93540 biolink:associated_with_increased_likelihood_of MONDO:0012589 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9b41717c-e40a-4ab4-97be-b95f7c548a22 CLINVAR:93540 biolink:is_sequence_variant_of HGNC:11634 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 95fa50df-3428-43d7-8923-bb6f50e1bb57 CAID:CA6748738 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 74b317f8-4353-4712-8478-a1d1f09b33e8 CAID:CA6748738 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3635fa37-8964-45ca-a977-d5a13ea26024 CLINVAR:2896 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8000f538-66da-4e85-9082-d9b5446660db CLINVAR:2896 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 39d00390-eadb-4962-9b4e-831a7b83eb65 CLINVAR:952997 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b84d17d4-f0ac-49d6-8ddc-505fab6174e4 CLINVAR:952997 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 132ff440-133b-4daf-ac3d-3fbc41f0b659 CLINVAR:952995 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2c47f948-9817-4441-9d19-701623ad6643 CLINVAR:952995 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1f0dc3ac-6802-4b46-9ca2-82c2c9023c10 CLINVAR:132709 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 53ae925a-649b-4fe5-8aec-77fa32272eb6 CLINVAR:132709 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 620529c8-4f7d-4405-b10c-38cf8aea5d4f CLINVAR:234571 biolink:associated_with_increased_likelihood_of MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 985f4e1e-6b0c-4c99-9356-35211f034874 CLINVAR:234571 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 696e8a3f-d072-4e7c-8e25-b746716fa6b3 CLINVAR:532474 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 03cbc05a-3365-4771-9941-13d6a2eab3ad CLINVAR:532474 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3522172a-129d-45be-bbcc-3fd332f245d9 CLINVAR:532457 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen fdf3de87-bf3f-49f0-9777-32829e7c8ef3 CLINVAR:532457 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0f40ff99-13ae-4f54-94c3-208ce5a5d451 CLINVAR:486826 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e666e0f6-8612-4264-b57d-d9dd2fb7ddde CLINVAR:486826 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1ee3520c-f7d6-4d97-98d6-852a769c64d3 CLINVAR:463723 biolink:genetically_associated_with MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 44c4a165-b362-4b17-88bf-674faa0c398c CLINVAR:463723 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 169ecb13-1110-43c4-bd32-a890c0e81f60 CLINVAR:481704 biolink:genetically_associated_with MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8092b3c0-82ef-46c3-adfc-7553c75aa036 CLINVAR:481704 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 61489f6f-74a9-4607-bb6a-d81de002730d CLINVAR:532459 biolink:associated_with_increased_likelihood_of MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6e2ac5ab-5be3-4e38-a23e-25939b900943 CLINVAR:532459 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8aafb469-5e92-4885-9e5e-8bd28a7af3ea CLINVAR:233417 biolink:associated_with_increased_likelihood_of MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 663f805d-1423-4d09-adc1-e16eade328f1 CLINVAR:233417 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen abe0397a-a540-4070-ad5c-d911a0f8a3eb CLINVAR:127915 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c477700e-df66-4d4d-9a4a-a1868456875f CLINVAR:127915 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 62a0a82a-5fcd-477d-a1f6-f1c243fff407 CLINVAR:406622 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c463434c-2cbd-46aa-85e2-b97fc8c06be2 CLINVAR:406622 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d65e8c73-5fc8-4200-8398-34fa922e328e CLINVAR:651982 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 082554e2-a479-4a04-ad79-a525b508d9bc CLINVAR:651982 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 09f139c1-98f3-4d42-824e-63b4b90bd9ed CLINVAR:428629 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 489d0050-70b0-42c6-8cc6-0ea9bcd11239 CLINVAR:428629 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 24028e43-bed1-4a86-bbea-ee0e715c66bd CLINVAR:371806 biolink:associated_with_increased_likelihood_of MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen cfc46766-053c-4107-a3d8-1ecd47c388ba CLINVAR:371806 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 61d341f2-b014-4a56-8aec-d196e8442e57 CLINVAR:479514 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2e5bda32-f414-45f4-9926-1a679e069e7e CLINVAR:479514 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ea8785ed-e5d5-4c8f-be22-e94ef02de13f CLINVAR:421639 biolink:associated_with_increased_likelihood_of MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5e93ddc7-e146-485d-ac34-259e4868811f CLINVAR:421639 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a3cd6594-560c-45de-befe-64898518ddf9 CLINVAR:491520 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 83442ebc-fc27-4cbe-854f-a93b05952fba CLINVAR:491520 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c3cc0a6c-407c-42a9-a166-26980832ef33 CLINVAR:481028 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 41a4c459-45b4-4e65-8cae-0e8337ca9793 CLINVAR:481028 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 01d43810-d52a-4894-9d01-849ff06bda41 CLINVAR:224529 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1a1d9e4b-4b66-4d62-a540-2853009ef3ad CLINVAR:224529 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ce4d5d29-24fe-4cb6-9d5e-d41356eb9a97 CLINVAR:573147 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen dafccd00-29fc-491b-93b3-47d31a3b12f6 CLINVAR:573147 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bb02b475-b17e-428d-a099-802d86d0bc2b CLINVAR:428634 biolink:associated_with_increased_likelihood_of MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c5258e63-44c9-47ba-bb23-c25a6c4dbbaf CLINVAR:428634 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 91f67be8-2e21-4e01-8705-b755cb4985fd CLINVAR:463736 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d8d8e5cd-6208-4af9-9a9b-135b73bc1d8b CLINVAR:463736 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7415e03e-4e16-4652-bc08-4452f0f89604 CLINVAR:918853 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9adebade-b5ff-43c7-97b4-5880525b8d6d CLINVAR:918853 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 93782e90-1df2-41a4-9df0-5e3136776608 CLINVAR:234636 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1c9cee02-d548-41a6-a096-4cec2da8f9de CLINVAR:234636 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d096eafa-a6ce-41b2-b9df-b41842bfa143 CLINVAR:483276 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c532577c-1608-4659-add3-508f5827cf93 CLINVAR:483276 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 796d38c4-a9f6-4058-b633-29af81ad45cd CLINVAR:207545 biolink:associated_with_increased_likelihood_of MONDO:0012589 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9087d7a0-a654-4add-9672-884b4cc7ef1c CLINVAR:207545 biolink:is_sequence_variant_of HGNC:11634 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 00601b9a-325b-4987-a8b6-57e9020ad264 CLINVAR:95378 biolink:causes MONDO:0010278 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 77cb7fe1-643d-4f71-8b5d-8e73b8d4ed51 CLINVAR:95378 biolink:is_sequence_variant_of HGNC:11079 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 432f6b19-8c79-40b8-acc1-961795881b88 CLINVAR:167702 biolink:causes MONDO:0010278 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d85a6cba-9854-4de2-9f9d-f09f46c6eb4c CLINVAR:167702 biolink:is_sequence_variant_of HGNC:11079 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4ba9e595-2364-4b7c-8048-c42e65eb349c CLINVAR:95202 biolink:causes MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 733b9c37-7634-4813-a9cb-00c522684fcc CLINVAR:95202 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cf2a6e24-7775-43de-b9bb-cda78cbf3f03 CLINVAR:143406 biolink:causes MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0a31d3f5-a380-4834-ae62-9e1f63e5d365 CLINVAR:143406 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fa68ce03-3b88-49af-8023-23699b75c007 CLINVAR:158602 biolink:causes MONDO:0100040 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a545a714-a9a2-46f6-bb55-9a71083ec8bb CLINVAR:158602 biolink:is_sequence_variant_of HGNC:3811 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 900d2c36-3074-458d-bb3f-af01259142d3 CLINVAR:383439 biolink:genetically_associated_with MONDO:0010278 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ca1be699-20ac-467c-a01b-fb50a36f4597 CLINVAR:383439 biolink:is_sequence_variant_of HGNC:11079 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d7917a67-0be4-4ed3-8eab-32acc7190837 CLINVAR:189612 biolink:causes MONDO:0100040 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 83ed16ff-2b34-4813-8c6f-d25bda277a87 CLINVAR:189612 biolink:is_sequence_variant_of HGNC:3811 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 998fe195-dec8-4703-92e1-4e990bac53d5 CLINVAR:156616 biolink:genetically_associated_with MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 63b3a578-bec2-49fc-851c-26c674896c44 CLINVAR:156616 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 248f0f5c-e157-44c3-8f91-3020db1ac0ef CLINVAR:205485 biolink:causes MONDO:0100040 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 90b723fc-2a4e-445c-bede-3cf3984c488f CLINVAR:205485 biolink:is_sequence_variant_of HGNC:3811 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a6d0e084-9bbd-4cd6-889d-2e47aaff6bbc CLINVAR:158179 biolink:causes MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 952a20f6-9058-4e46-b933-2367f904ba38 CLINVAR:158179 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5b6e9135-4ad6-4431-9ec1-0725dd832ebe CLINVAR:7967 biolink:causes MONDO:0007113 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6aeed10d-2d84-44c0-a5df-cad8bfb91e0e CLINVAR:7967 biolink:is_sequence_variant_of HGNC:12496 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 90afb9a2-175d-412b-81b9-52c62151525b CLINVAR:546267 biolink:causes MONDO:0007113 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b96a78d7-f222-4798-97c7-6c7b0de682a5 CLINVAR:546267 biolink:is_sequence_variant_of HGNC:12496 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f85c9b9d-e05c-4be2-b29c-49b19e902b2c CLINVAR:214935 biolink:causes MONDO:0019169 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4e7b7da5-0e21-4680-96b5-dd168a3b6c72 CLINVAR:214935 biolink:is_sequence_variant_of HGNC:8806 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 767bdb90-bc7d-4e0f-95dd-05f23a65019a CLINVAR:10880 biolink:causes MONDO:0019169 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6378d01d-560d-4d88-8a38-dc7445a72b6f CLINVAR:10880 biolink:is_sequence_variant_of HGNC:8806 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 827daed1-55bb-42b2-9201-3c40876ce09f CLINVAR:214941 biolink:causes MONDO:0019169 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ae95e93d-d550-4309-a256-d4332da931b3 CLINVAR:214941 biolink:is_sequence_variant_of HGNC:8806 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9a27a505-1c84-49cb-bd1b-1f5eba4d6ad3 CLINVAR:655703 biolink:genetically_associated_with MONDO:0019169 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4ccf5d3f-b069-4e8c-81d1-0d527d8e00f8 CLINVAR:655703 biolink:is_sequence_variant_of HGNC:8806 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a2f6529e-37c7-4562-8dd1-5c4bf5153bbf CLINVAR:391039 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c15a1fdd-f588-4b50-a3c7-d8dc827793af CLINVAR:391039 biolink:is_sequence_variant_of HGNC:9179 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6840ef26-2132-4000-845f-0af78986d446 CLINVAR:2317 biolink:causes MONDO:0011229 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8f0b02e2-979c-4527-91fc-ba9537d3dc5a CLINVAR:2317 biolink:is_sequence_variant_of HGNC:23287 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a4386688-ce78-478b-98d0-8190df1c4038 CLINVAR:129997 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3472b583-2feb-404f-8c94-60290c99fdb9 CLINVAR:129997 biolink:is_sequence_variant_of HGNC:9179 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e08817ba-bf23-41b9-aeed-8db06f23c286 CLINVAR:138764 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d2a1884f-fdf8-4ea4-ad7c-a873b22fc9db CLINVAR:138764 biolink:is_sequence_variant_of HGNC:9179 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c76b32d4-fa1e-4460-8be6-0ab12619a86a CLINVAR:597808 biolink:causes MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen df7dad68-5976-4220-8fb8-c2e3eb3e4901 CLINVAR:597808 biolink:is_sequence_variant_of HGNC:9179 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2d60636f-6e77-43b3-b2ee-308070cb2577 CLINVAR:21315 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 23d42d8b-2a74-4c21-ae6a-334bc774dce6 CLINVAR:21315 biolink:is_sequence_variant_of HGNC:9179 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 930fcae4-dcb5-4ebc-9736-7532645be4b6 CLINVAR:285869 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b2aa7899-9d83-4ca5-841b-76da40c421c1 CLINVAR:285869 biolink:is_sequence_variant_of HGNC:9179 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7ecd01a6-c3a1-4b06-be5d-b1ab4e0275dd CLINVAR:378418 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 77d681df-6ab0-4939-821c-c6bdfdc79988 CLINVAR:378418 biolink:is_sequence_variant_of HGNC:9179 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 08d61042-73cf-42ba-80eb-992f22921a8e CLINVAR:885824 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 711e33c7-a172-4998-bcbc-3195675d0f9d CLINVAR:885824 biolink:is_sequence_variant_of HGNC:9179 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8ff524d9-a210-43f9-a641-1f893a4f13f9 CLINVAR:886829 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 09f12a7b-b2b2-49e3-8bc4-e15bf503b601 CLINVAR:886829 biolink:is_sequence_variant_of HGNC:9179 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e8fc5c21-5eba-41c4-aade-5884a6ce80dc CLINVAR:426681 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0d54d08a-c0d1-4658-ade0-56886fa619bd CLINVAR:426681 biolink:is_sequence_variant_of HGNC:9179 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5a9b6370-f842-4f84-aab1-951d69351bdf CLINVAR:619340 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0106f670-da82-4943-810c-1bb31c528a93 CLINVAR:619340 biolink:is_sequence_variant_of HGNC:9179 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c18fc4d4-9fe1-4ba4-a2cf-c393f12f081f CLINVAR:317304 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 568ac315-c304-4c72-be91-425b3124317a CLINVAR:317304 biolink:is_sequence_variant_of HGNC:9179 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8407b126-6489-40d5-a85a-f49bfeba7841 CLINVAR:129995 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 85f5cf71-df2e-43be-8119-01e78cca4550 CLINVAR:129995 biolink:is_sequence_variant_of HGNC:9179 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d328b2ef-5d81-4246-b2b1-1c2d58a159fe CLINVAR:206553 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ab8a0795-6eab-4e69-aff9-ed7840decf35 CLINVAR:206553 biolink:is_sequence_variant_of HGNC:9179 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e29af707-fa1c-4553-8a4c-18f00e4dc66c CLINVAR:504504 biolink:causes MONDO:0011229 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen be57744b-ab5d-4167-8e55-c7791f9838a3 CLINVAR:504504 biolink:is_sequence_variant_of HGNC:23287 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 775db31e-cf9f-49bd-8123-d42b86301204 CLINVAR:620293 biolink:causes MONDO:0007113 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a2142252-ea87-4285-a3c6-83b44f012910 CLINVAR:620293 biolink:is_sequence_variant_of HGNC:12496 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aefbfa44-240a-41b4-a8b7-83bc32c7cebd CLINVAR:143822 biolink:causes MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4839b6a7-6c77-469a-bf2b-430002a6a0eb CLINVAR:143822 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9c3683eb-c6d1-438d-a37d-dae6bdbb414d CLINVAR:195397 biolink:genetically_associated_with MONDO:0007113 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9baef413-5c59-45bc-9d85-6b767c496a71 CLINVAR:195397 biolink:is_sequence_variant_of HGNC:12496 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 15d0ee98-ad05-4d30-b722-0ab4d99ef8d8 CLINVAR:418572 biolink:causes MONDO:0007113 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7ad200c3-a14c-45b8-ba63-6ec489007831 CLINVAR:418572 biolink:is_sequence_variant_of HGNC:12496 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3f9dcf4a-fa51-421b-848d-e3ba80aaea16 CLINVAR:94113 biolink:causes MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 786c5eeb-de19-4030-9266-1c1402a62a6a CLINVAR:94113 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 15c1e9a3-f93d-472e-b0fe-28ebfe512370 CLINVAR:102891 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 002fd63f-7fbe-4c70-9a88-879af85fdd75 CLINVAR:102891 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d0bc6a10-7c06-472e-8375-833d21133985 CAID:CA16020891 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1a96051e-58fd-4233-a972-c520671b64d6 CAID:CA16020891 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3d3527b9-a082-4c03-8165-3ed26c9978ee CLINVAR:102466 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b0aac846-fea5-458e-b522-a6c176386111 CLINVAR:102466 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 77eb0eb3-9193-4155-a94d-52a1b72c1e99 CLINVAR:102467 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 198522b7-746a-4f4d-8fcb-26b9e8a07909 CLINVAR:102467 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen db6826ad-6ab6-431e-8807-9b33f7970581 CLINVAR:102469 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 15b9f708-4137-4e59-a95f-8c8b479b1927 CLINVAR:102469 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 07d16deb-d475-4d34-9002-9cedeb8de993 CLINVAR:102471 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e170f024-c412-4a22-8614-7d06c91c1f45 CLINVAR:102471 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0f57ff22-eafb-4160-a319-af1378194707 CLINVAR:102472 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6e207517-860e-4a21-827d-50e85f081ad8 CLINVAR:102472 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 90313754-0e53-423e-86f5-057d699f216b CLINVAR:102512 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fe98477b-cd20-423a-93f0-ce79cb685f17 CLINVAR:102512 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 81beafee-7259-4824-a745-a5660c61da16 CLINVAR:102527 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a93f64ea-04bd-4870-87e9-bf51f02da8a1 CLINVAR:102527 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f095a894-a8f8-4b48-84ae-bc59830ed44a CLINVAR:102665 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e8383d89-e7ee-4203-80ee-3229a7c264ed CLINVAR:102665 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c07d454a-3796-44f9-adcf-bbb0283cc4ec CLINVAR:690393 biolink:associated_with_increased_likelihood_of MONDO:0012589 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8e3e1ffe-f5e7-42c4-9248-818bd3c57d39 CLINVAR:690393 biolink:is_sequence_variant_of HGNC:11634 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 10ba8714-6d4e-4436-92b9-6091064163aa CLINVAR:434661 biolink:genetically_associated_with MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e7d57b32-e106-4b71-907c-ea966aa84869 CLINVAR:434661 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c5b8364a-8a8a-4944-9e3e-4498cc9097d1 CLINVAR:434662 biolink:genetically_associated_with MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c55aa890-4d9c-4540-835b-fb648c3f5e5a CLINVAR:434662 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e9918048-6e63-4591-9aec-59f190036948 CLINVAR:133342 biolink:genetically_associated_with MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a3c72365-d867-4760-b941-da6ac4173a3a CLINVAR:133342 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 525091d5-1c28-4768-8a92-492c0a30e1ee CLINVAR:143578 biolink:associated_with_increased_likelihood_of MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 85441ae5-7be8-4197-bba7-44cd6a3cf616 CLINVAR:143578 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cc8b27cb-d549-4fdd-80c6-1056eb8e6467 CLINVAR:421239 biolink:associated_with_increased_likelihood_of MONDO:0007113 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ec16619b-2274-4a1b-aba8-d21266501281 CLINVAR:421239 biolink:is_sequence_variant_of HGNC:12496 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 57b67d43-afa8-463e-9385-02230b9b257e CLINVAR:420601 biolink:genetically_associated_with MONDO:0007113 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 57dbfb18-ef77-4758-b79b-e295c6b95d98 CLINVAR:420601 biolink:is_sequence_variant_of HGNC:12496 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 93a9eb88-3a01-476e-8dec-f41b90b944fa CLINVAR:524012 biolink:associated_with_increased_likelihood_of MONDO:0012589 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a2e920b8-61e5-47c4-ac4b-233cb9e35089 CLINVAR:524012 biolink:is_sequence_variant_of HGNC:11634 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ffa7e35f-8f58-4004-90d4-9ed0d59ecfbb CLINVAR:207239 biolink:genetically_associated_with MONDO:0010278 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 94756b79-addc-4553-b842-cac96a47bd55 CLINVAR:207239 biolink:is_sequence_variant_of HGNC:11079 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3cb90458-53d0-4965-9a2b-23905f0b3cf3 CAID:CA913189044 biolink:genetically_associated_with MONDO:0100040 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6bdfb035-8816-457a-92c9-eec17d52c770 CAID:CA913189044 biolink:is_sequence_variant_of HGNC:3811 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f0d30a9e-7459-43c1-838f-d83b8a0b79eb CLINVAR:859603 biolink:genetically_associated_with MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a5d618f6-7b7a-4d8b-bb9f-2a1d91c85a3f CLINVAR:859603 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ae0fb87a-623a-43af-b9fe-52a154d70d14 CLINVAR:429629 biolink:genetically_associated_with MONDO:0010278 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 495076c3-f619-435d-957c-d6018b834ce6 CLINVAR:429629 biolink:is_sequence_variant_of HGNC:11079 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e70f0edf-3dcf-4c1f-91ba-8b8ecf832c82 CLINVAR:11824 biolink:causes MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8d97e3c3-c7c8-4e8a-b8c0-e57994cfc324 CLINVAR:11824 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 29318291-82b7-42ad-8cca-aef6a4c5bdbf CLINVAR:11503 biolink:causes MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8bae5810-dc87-4d87-91bf-2605bc364801 CLINVAR:11503 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ff63a0db-d45e-4045-aff3-de75c1e3e7cb CLINVAR:503729 biolink:causes MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c4dee318-58b7-413c-8f2c-8ed64f16c632 CLINVAR:503729 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 264a3a0c-1c71-4bdb-ac16-1be67d5ced75 CLINVAR:11819 biolink:causes MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 07153264-b70e-4c34-93b4-49a1c7cc6d86 CLINVAR:11819 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c23a1b6a-659f-4b73-9039-10623709ed93 CLINVAR:7371 biolink:causes MONDO:0012589 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 52138f6a-f840-4bdf-b8e8-7c22c6d69782 CLINVAR:7371 biolink:is_sequence_variant_of HGNC:11634 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fd82c9c8-16ba-48f8-9b99-a91ccf250f82 CLINVAR:212379 biolink:causes MONDO:0012589 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 86324980-a165-44ce-a5c0-73594f261271 CLINVAR:212379 biolink:is_sequence_variant_of HGNC:11634 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 64ffc7d5-6077-424f-a74c-9a8bd584207e CLINVAR:451937 biolink:causes MONDO:0100040 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 350fc6e7-014c-4d94-a77a-67c538b8f022 CLINVAR:451937 biolink:is_sequence_variant_of HGNC:3811 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d92ecbe0-dce7-4ee2-be9f-b4c103d785eb CLINVAR:160220 biolink:causes MONDO:0007113 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 65c5416d-ac03-4f7c-9232-f79b72404d7d CLINVAR:160220 biolink:is_sequence_variant_of HGNC:12496 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 205ed6f2-419e-40ee-b3b6-b68d4970833d CLINVAR:393171 biolink:associated_with_increased_likelihood_of MONDO:0012589 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c7cc8c24-a31e-4983-b9d9-50e4ec103d58 CLINVAR:393171 biolink:is_sequence_variant_of HGNC:11634 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7c8f4bad-f97b-42aa-ab08-3def9e408e3b CLINVAR:156620 biolink:associated_with_increased_likelihood_of MONDO:0007113 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2e573f0a-cd27-489a-8b80-368d157b7a10 CLINVAR:156620 biolink:is_sequence_variant_of HGNC:12496 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8e4782ef-247e-49f1-92ed-dfacf94c76ae CLINVAR:432062 biolink:causes MONDO:0012589 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6a31048a-7e2d-4198-a836-1d2db2904137 CLINVAR:432062 biolink:is_sequence_variant_of HGNC:11634 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1b55befc-ecf4-45ab-8c2c-48e6f82009d3 CLINVAR:11844 biolink:associated_with_increased_likelihood_of MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 42d6f315-9ea9-4601-8897-75f634f3f76c CLINVAR:11844 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7307cddd-c076-47bd-8e63-c92ef8b5a856 CLINVAR:160092 biolink:causes MONDO:0012589 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0329110f-7f70-4860-9301-de687937472d CLINVAR:160092 biolink:is_sequence_variant_of HGNC:11634 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0d8076ed-c491-4254-aba2-05f296dc92ce CLINVAR:155987 biolink:associated_with_increased_likelihood_of MONDO:0007113 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 51e9ea45-81dd-4b32-8147-bb4856566296 CLINVAR:155987 biolink:is_sequence_variant_of HGNC:12496 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1f17714a-7ab3-4b7e-9654-dbcf3eaa8a55 CLINVAR:143826 biolink:associated_with_increased_likelihood_of MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5871b1e4-7144-4c7b-8365-0127d57e9680 CLINVAR:143826 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a5404c85-f5c9-4403-85f7-f1ab0eb2b1b3 CLINVAR:136199 biolink:causes MONDO:0007113 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b0e9d541-5ab9-424f-a7ac-0d43375140c9 CLINVAR:136199 biolink:is_sequence_variant_of HGNC:12496 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 59f299ce-7764-4137-82bc-e769085d75bf CLINVAR:143524 biolink:causes MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e203d19c-b4d3-40da-8447-170968477e66 CLINVAR:143524 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 52f84f1e-a62a-4a7d-942d-61b51f534fca CLINVAR:155994 biolink:causes MONDO:0007113 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5f89d8e0-ae78-4b50-8850-9543dcba10e2 CLINVAR:155994 biolink:is_sequence_variant_of HGNC:12496 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e89bfebb-5101-4534-806e-b8291aa68372 CLINVAR:918032 biolink:causes MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 08a379d4-8c7f-4414-b362-cee51695877a CLINVAR:918032 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2555aefe-e265-4e03-bde5-3e9a5a340e53 CLINVAR:189554 biolink:causes MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen cd10a802-70de-4bd4-86a0-9b3ed700ee65 CLINVAR:189554 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6cde813c-f097-4c14-9e9c-f0831476a62f CLINVAR:93542 biolink:causes MONDO:0012589 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 65ebe49e-ff25-42b4-9b42-0bc43013c63d CLINVAR:93542 biolink:is_sequence_variant_of HGNC:11634 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4aa01519-0262-4419-bb8f-0066418c3a8e CLINVAR:95268 biolink:causes MONDO:0100040 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0b55a6d1-bd20-418d-ab83-a0c81b8bc7ef CLINVAR:95268 biolink:is_sequence_variant_of HGNC:3811 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9ddf8e8d-7659-4382-9f8b-5b74f82b3f6a CLINVAR:423029 biolink:causes MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen fa41f072-f72d-4276-b0db-1ee9346ed3e3 CLINVAR:423029 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cc3cb787-a2bf-4d18-b0a5-35cb034a1b68 CLINVAR:381549 biolink:causes MONDO:0012589 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2e2c79d2-eccd-48e5-adcd-59675b0e634e CLINVAR:381549 biolink:is_sequence_variant_of HGNC:11634 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7845d37b-97b3-47ee-b98a-564afd1b8582 CLINVAR:156068 biolink:causes MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8101aa23-d30d-4d11-be59-eb38819199dc CLINVAR:156068 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 467996c0-d82a-4fd5-8e0c-ae4d6378b34b CLINVAR:7370 biolink:causes MONDO:0012589 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 530eccbf-9d77-4c39-96c8-a16904a8b670 CLINVAR:7370 biolink:is_sequence_variant_of HGNC:11634 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 27c6c332-7c16-4c51-b82b-176c146bfc66 CLINVAR:11502 biolink:causes MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8b65ba11-d007-474d-8f7b-7731268f64ad CLINVAR:11502 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f1ca5f0f-78d5-4a43-bf5b-90899d7a67ae CLINVAR:21318 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b15b3f49-1596-4bc9-9b7f-cbbb562a4160 CLINVAR:21318 biolink:is_sequence_variant_of HGNC:9179 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7ad63d5c-1cc2-409b-a180-1cc30b2a0f11 CLINVAR:206556 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 02cd2aa6-aa82-4085-95e8-cb904db125ea CLINVAR:206556 biolink:is_sequence_variant_of HGNC:9179 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ad825723-bcdd-4bd4-b793-9a20d3a5073d CLINVAR:566733 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b295ac25-981c-4f76-828b-8e5012ff453f CLINVAR:566733 biolink:is_sequence_variant_of HGNC:9179 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f0691baf-5bc7-43a4-83d5-09a2097b276d CLINVAR:133032 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 03b383ba-dfa2-46a2-b22a-3fc25b43ef5a CLINVAR:133032 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f57f8152-3e29-48f3-a000-f96f5f896d45 CLINVAR:133005 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen aebed107-1e9c-4568-8372-fbb70cf52e96 CLINVAR:133005 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d1d43369-cd7a-43bb-adba-2c23bf4276ad CLINVAR:133013 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ff07d6a6-51c9-496f-966c-e4ce748ca1f8 CLINVAR:133013 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 98b407fe-be04-4ba7-97ef-b51a88b0e1e3 CLINVAR:1029908 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a1105aab-5505-402a-9380-1f697b9f4dd6 CLINVAR:1029908 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aef91215-7c84-48d1-92bf-856103ea7781 CLINVAR:65956 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9bb936d1-6454-4230-9fb4-6627a3affe7f CLINVAR:65956 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1bfde1d3-2d99-4a74-bb9d-9d9012ef46a6 CLINVAR:1120227 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d44ceb71-1dcf-471f-9d81-5923ca1caf84 CLINVAR:1120227 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4bbd499e-e6a6-47f7-a078-c5aa51858702 CLINVAR:933345 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7b8d21b9-c41a-4630-a355-1443de448d60 CLINVAR:933345 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9e067503-3f4f-4b6e-bff3-2512fab61cc7 CLINVAR:478157 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b0fb2726-5254-4e42-9bbe-74727a237270 CLINVAR:478157 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 84f0fdfb-1ae7-4812-a028-dd622a3b33b7 CLINVAR:133036 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 89f67897-5e2e-4bd0-9956-84c2f51ce23a CLINVAR:133036 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 11f1901f-4de5-4e48-a8be-bdc018bcb050 CLINVAR:1019540 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a6898e39-548a-4482-bf1f-172be9afcc9a CLINVAR:1019540 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 07eb4b33-821c-471b-b375-d1c549626c96 CLINVAR:132988 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d65221f3-35b7-4ea2-a652-67a3717e5815 CLINVAR:132988 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8dcb9b05-95eb-4297-acd1-f7a8b9e84615 CLINVAR:133033 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2870b1ff-107b-42a7-b0fb-decd155f4534 CLINVAR:133033 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 81241107-c4c3-460d-aae4-83a20200a95a CLINVAR:1120229 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 86989509-1e21-4eea-adeb-d04cb234e4f3 CLINVAR:1120229 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f81c1c0c-0321-4527-aaed-7286ee3d0587 CLINVAR:133025 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen da9caee0-98bc-420f-9f7e-ca4821a13888 CLINVAR:133025 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8b8d9ee0-78d4-4b92-ae10-889b0d732edb CLINVAR:1120230 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3499bde1-c49b-4480-9177-4e611606a2d8 CLINVAR:1120230 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9b263d22-cebe-4904-b0b0-06bd4f770c48 CLINVAR:133040 biolink:causes MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 45083033-c83d-4bfe-a28b-fe3faa7e56de CLINVAR:133040 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a8141424-1198-467f-b21f-2ec8f05b21b0 CAID:CA16020940 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c52b14eb-9d39-4847-b167-6d9c5358188d CAID:CA16020940 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bfaf7b69-8d64-41b7-88bc-41bd1edf206a CLINVAR:639999 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen bed33a9a-bdb4-40c7-b97a-f6efef541eb3 CLINVAR:639999 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d0d6ffb3-53ba-48d1-ab87-b7128f277e03 CLINVAR:161377 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8b721eb8-2f41-421d-8be0-563a11d769ed CLINVAR:161377 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ba6b8c84-e461-45bb-85d2-2b34b58c2a36 CLINVAR:102582 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen dc4a63bd-8a28-4aa6-8a7b-3139da01d561 CLINVAR:102582 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ed6a6aa2-f0bc-449f-9d4f-4fcc6a2a873f CLINVAR:102554 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2972da19-4365-483c-b69e-525ca7421551 CLINVAR:102554 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1137c174-29fe-42a7-a3ae-e4b9972c1147 CLINVAR:133042 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5099d294-a833-4eac-9c70-30c6484275da CLINVAR:133042 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4cf8de44-bf0f-40ca-bc76-4dd4ad77e7f9 CLINVAR:590447 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9fc09312-7614-4edb-af17-962fe1d678c2 CLINVAR:590447 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b3bec1d1-1018-4c66-beae-cca3b8e8441d CLINVAR:478199 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1030c776-1b9b-4f65-9baf-b051d83aa5d9 CLINVAR:478199 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f65e20d4-5631-4967-9e2c-526ca4da8b3d CLINVAR:65941 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6ca5a1b0-edb2-4351-b35b-94c8bd867a3b CLINVAR:65941 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 95a395f8-db83-4aa2-9029-b09548fed108 CLINVAR:133055 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0679312d-a361-460c-aefe-7167d3659a10 CLINVAR:133055 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 17d5fc37-f3a4-4222-8c56-30f82bf6dcba CLINVAR:285857 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d88c76fe-7994-427e-b624-66f53e805272 CLINVAR:285857 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c7a21a5d-a564-47e9-8fe5-6c953a7aa835 CLINVAR:133053 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ef11a152-9d6e-4963-81ba-7dc20be94436 CLINVAR:133053 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c41b9672-2051-4b93-b0ac-4d5dbf0d85ee CLINVAR:133056 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6910aea2-3ba2-40dd-af5d-37ac43760bf2 CLINVAR:133056 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4d61f22b-a884-4f00-8d33-98676d622df8 CLINVAR:654427 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 45c320a9-d72d-4306-b5c1-4e76b12c3b6f CLINVAR:654427 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ed565df8-ffd9-490f-9da0-c1743f0dd82b CLINVAR:478187 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 353b06a8-9d8d-4742-b39b-405296701bae CLINVAR:478187 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6351488d-9a01-4990-bf68-1c30f7941cd4 CLINVAR:590453 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 50cf0a89-719e-4a49-8d24-ee66bb1347f9 CLINVAR:590453 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4e3ff3e3-900f-4bfb-b41f-b8f8e17533f0 CLINVAR:133038 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a3772f8e-3b39-46c7-b975-1e7694e3ea6b CLINVAR:133038 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cf7460b2-4a03-48d6-9f56-abbc75c17699 CLINVAR:133057 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9be82148-32cb-45c0-8cba-e71239b2d734 CLINVAR:133057 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 854e6e36-d116-4cd4-a0b3-9f26804c66da CLINVAR:133068 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7b4df4a6-e2d8-4dfa-a34d-64cb9a654d36 CLINVAR:133068 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b47bca0a-f84f-4cc2-bc3d-16bf449cc582 CLINVAR:590405 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6d7cce08-ec21-4cf2-a831-347defd6fc71 CLINVAR:590405 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d2fffce1-254a-45d3-b3af-1e799a0a1e41 CLINVAR:590413 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ddb34d82-5940-4078-9e34-8be8c1fd8936 CLINVAR:590413 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9d3baad4-50b7-49df-970d-868f23579e8e CLINVAR:1120228 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 991ec178-c881-4fae-ab25-f3ae5d63db6c CLINVAR:1120228 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 16266f43-966f-40e9-b623-bba47e2fe70f CLINVAR:133060 biolink:associated_with_increased_likelihood_of MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ebda23fa-a15e-4f79-b24d-9eea6dc3dcd9 CLINVAR:133060 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 70425edf-e2e4-4689-8a14-0a746efd59f2 CLINVAR:102754 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d012f14a-aa00-440e-801d-6529cb9be9cb CLINVAR:102754 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b50aac45-eee1-4cb8-a7c6-c2ee310246af CLINVAR:605 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 47dc3d31-3319-4ff1-ad4b-d3f692bbd92e CLINVAR:605 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 10335b75-2396-46a4-9a5d-1770d54329e1 CLINVAR:102808 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen cdc38545-095f-4ebb-9413-bc4a36e93b96 CLINVAR:102808 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c2012635-c687-416a-b458-632d5c97e0ec CLINVAR:102780 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 61e5ee88-f201-4c1c-8780-1d13e197a193 CLINVAR:102780 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7172b32d-c607-45b0-b261-ceab2c5444bc CLINVAR:102496 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 94c9f16c-e648-4226-8936-dce58f73bfa1 CLINVAR:102496 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 31f3d186-ca6a-4238-b9d5-abbc39588408 CLINVAR:102484 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5fdb582b-0462-4718-b765-94ff8414ffc3 CLINVAR:102484 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 242325cd-3006-45f8-88be-f61b2f894471 CLINVAR:102494 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen fc5ee142-5a97-4c8d-814c-ee21cb8cf2a7 CLINVAR:102494 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 05a12590-01c0-4246-b4b9-a995006ffd1a CLINVAR:102562 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2f29749e-8579-4a84-886d-62a599285d51 CLINVAR:102562 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 17307b34-89d8-4207-b9dd-05320ecb9e1c CLINVAR:102580 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 60744653-e987-4d8a-bdf0-019fc98b8a11 CLINVAR:102580 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4bed907a-4354-4926-bd1a-bb5717523538 CLINVAR:102481 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0ec73ca1-08c5-4820-ae69-56a770f01c45 CLINVAR:102481 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 99129699-cef4-465c-a225-b28c666f0ebd CLINVAR:102479 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6d60f0b5-e64e-4faf-b30c-85e0c5d89ea0 CLINVAR:102479 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2d95d805-86f5-48f7-9398-726a1006e8d0 CLINVAR:102480 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 46d9ab0d-cae1-401a-88c9-19f9e990cb56 CLINVAR:102480 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a86aca8d-4460-4aa6-b325-979ef484caf4 CLINVAR:102482 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6d897855-1d74-430f-9bdf-d1ac733387f0 CLINVAR:102482 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7b970598-592f-42eb-a1d6-2c1309c112f5 CLINVAR:102755 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1e297199-ed37-4587-a936-1d46cbee6fca CLINVAR:102755 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f8b85df9-bea7-4659-93d2-95b824ea0de2 CLINVAR:181207 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 175acac4-9e3e-470c-b959-06ab8bfae4ca CLINVAR:181207 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 99cb2a49-22ca-4d81-8673-d9b36b9e8acb CLINVAR:181282 biolink:genetically_associated_with MONDO:0008409 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6b196c98-5b06-4d06-9cd5-b1d062e34e81 CLINVAR:181282 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a9bf2782-9a5d-44e5-bf98-262a59afafd2 CLINVAR:42999 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 505ab6de-cf1c-418a-af65-14cd7f0dbfb0 CLINVAR:42999 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7e9fdcdc-8560-47fb-a830-1712eb099ed7 CLINVAR:181285 biolink:genetically_associated_with MONDO:0005021 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2503bcfe-51f8-4b30-9a03-065b8b64668c CLINVAR:181285 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 62f93dda-bb3b-4b36-826f-4796c0e51b41 CLINVAR:14094 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 778a5d3e-f958-4828-b842-355e47756346 CLINVAR:14094 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 448899ce-c28d-45fc-80b5-f021289b0ae5 CLINVAR:14113 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f2b94add-ad24-4fa6-92a8-799ea0b7bed8 CLINVAR:14113 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 060fc985-85c9-4cd7-b3d7-2fb7236c05f1 CLINVAR:14118 biolink:associated_with_increased_likelihood_of MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b99a1287-3318-40a4-9b63-47cc86d7395f CLINVAR:14118 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 81da3012-11e6-4757-a6dd-4a067e461730 CLINVAR:14126 biolink:genetically_associated_with MONDO:0004994 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ba699f7d-07c2-4043-b8dc-7e6b25227f09 CLINVAR:14126 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 15175c47-f0ba-459e-8418-eb88520cfd5e CLINVAR:418517 biolink:associated_with_increased_likelihood_of MONDO:0007903 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 85204127-e141-47da-bc51-bdb068c3348a CLINVAR:418517 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7228a9b9-cf32-44c9-8123-b3d910bf2a03 CLINVAR:185814 biolink:causes MONDO:0007903 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3d6957a4-3bce-40b4-81c0-269263f18eb9 CLINVAR:185814 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c7562191-7f97-4f1b-9575-04f2e9ec5814 CLINVAR:656751 biolink:causes MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 083de8cb-76ce-4726-9f56-3b8e563f13c4 CLINVAR:656751 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 17724a47-72ec-40e0-a1ee-367c3e47ebae CLINVAR:186587 biolink:genetically_associated_with MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen affea1fe-b9b2-46f0-82cf-b852b5df8f74 CLINVAR:186587 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e78ed18e-3d6d-455b-bbe8-4475672e5cba CLINVAR:142714 biolink:causes MONDO:0007903 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 70bff255-9b4f-4353-8b76-a94d64bc4b14 CLINVAR:142714 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 897ba1a7-b109-4ace-ab1f-8a9e7c890b15 CLINVAR:218342 biolink:causes MONDO:0007903 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen dad88192-c5ee-411b-8d92-97c51ef6b810 CLINVAR:218342 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8015f3f8-f455-4b90-9b92-12776b97447a CLINVAR:1172924 biolink:genetically_associated_with MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f5814c04-eac7-4382-91ca-0b7ffded37ac CLINVAR:1172924 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6317dee8-8612-42d3-ae2c-f7d1b2745cc5 CLINVAR:1019612 biolink:associated_with_increased_likelihood_of MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 56ec4b14-d13c-4fc2-b2ce-4fae047dcb6b CLINVAR:1019612 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 90503f41-279e-4749-8a16-8fff248b56a8 CLINVAR:182933 biolink:genetically_associated_with MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6eac5426-e2c9-4d24-b234-9d6fde818b35 CLINVAR:182933 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f0fb20ed-46e0-4984-a501-b9dd142efa40 CLINVAR:182938 biolink:genetically_associated_with MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5a706118-03b0-4476-a74f-47202658d3b7 CLINVAR:182938 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4a380eca-b312-463f-826b-0def6dd7b2ad CLINVAR:182953 biolink:genetically_associated_with MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2cc4bebd-af81-4f5c-989c-f9ac39156744 CLINVAR:182953 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9bdcaecd-7928-4ed1-9f48-0f37439577ac CLINVAR:188342 biolink:genetically_associated_with MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b8566e9c-17ee-4561-8f81-d6d588e78605 CLINVAR:188342 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a93f8173-9904-4841-ad45-f31a8ee45405 CLINVAR:413774 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0ccfcfde-8d57-48c0-9023-6f992a0033be CLINVAR:413774 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b89e4951-3b6f-4fa4-ad5b-49da29ffdc79 CLINVAR:161273 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1940998c-d350-41ed-a64a-3c05a1100693 CLINVAR:161273 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 97e09b71-f8be-4e9d-adb5-0327b7d52f37 CLINVAR:375775 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 96c7b751-8290-4ed2-b20a-97ae808226ed CLINVAR:375775 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 913c7e3e-8b70-47fa-8a75-ae62c24d7370 CLINVAR:252350 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen faa89584-2c93-4782-abe5-6c4df2fb1a88 CLINVAR:252350 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0d7cca78-c31a-4786-be4a-838788a5f505 CLINVAR:3734 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6b132cf3-5628-4593-be99-abaf3688c9b2 CLINVAR:3734 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 08a7170b-5721-443a-b42c-2182ab8eea21 CLINVAR:36462 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 68c74196-d19d-47e8-a145-81e49da53e68 CLINVAR:36462 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f177d393-ede1-439d-8897-7ae3277f024f CLINVAR:252304 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b7ddf51c-a697-41b7-b09c-67b5cd47db9d CLINVAR:252304 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 29210cac-00de-4a8f-8c26-b39fb1e55fd0 CLINVAR:3744 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen dbaa399e-eb80-4e87-8868-dedc97a9844a CLINVAR:3744 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8a3c50ea-e2f2-4220-856f-e9e14d9e60a8 CLINVAR:183130 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e77e5cd7-ca95-48eb-8ce7-49e059acf9a1 CLINVAR:183130 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f268cbfc-5479-4d2d-b162-55a476bf70bf CLINVAR:252219 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3d0a8796-55fb-4cee-b6b0-dfedeb8dc0f8 CLINVAR:252219 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3b06574e-f287-4632-b719-522ca124d71d CLINVAR:252188 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 98d612e6-552b-4768-8169-bbe3bf7d16db CLINVAR:252188 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aaa4bb47-6d27-47c3-b975-c2b325ff4d5d CLINVAR:3689 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 73d3f1bb-3618-4ee9-a6aa-9d19e095e808 CLINVAR:3689 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 809a6ef2-027a-46aa-985b-7c1671dc3e6c CLINVAR:252136 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e613b532-3851-4273-ab47-f0c87ebdb89f CLINVAR:252136 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a8cfffcc-644b-472d-8053-25a291c82613 CLINVAR:252135 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 569c9ce1-3d26-47fa-a3db-2be6964cec55 CLINVAR:252135 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9fa29062-eb9e-475c-8b22-3b93a4d46d06 CLINVAR:252083 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen add2c489-1058-4db3-83a3-04afe8974ce5 CLINVAR:252083 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 308ea7e7-51da-488b-ae6a-6ec1ff51539f CLINVAR:161264 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2a3f0ac2-a1ff-46c4-a619-8ef6fedb4f72 CLINVAR:161264 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dee981ae-863b-4fac-b38b-0580adab0912 CLINVAR:161290 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen cefc7259-190b-4945-b01c-8dc370d72709 CLINVAR:161290 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a17dbf9f-5a06-4190-80ec-441072671043 CLINVAR:161271 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen cf9da4f4-a525-44fd-bae0-2decde1648a3 CLINVAR:161271 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aa4a0253-4dc6-4df9-a9c7-9a60b40b62aa CLINVAR:183120 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b30064a5-21db-4550-96e3-93e3db2950a7 CLINVAR:183120 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2ed2e75e-d6a5-4280-8e90-b2b02dfae8e2 CLINVAR:251783 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 14f2e353-c912-4200-852a-bbdb400391eb CLINVAR:251783 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fb180501-7f6d-409a-8aef-da531269b79c CLINVAR:161276 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ad0fc7a6-a7ae-450e-ae02-aac1e29ac33d CLINVAR:161276 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a77d4fcc-1c64-4c71-968f-53e0f23d53a8 CLINVAR:36453 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3b6dbbeb-6fc2-4aac-b82b-bfe256ec2c70 CLINVAR:36453 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 54bc6662-0e67-4a34-9eb6-7c5f7d4a10ec CLINVAR:228798 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f7262ec5-1cb5-43a3-88a6-39439935e857 CLINVAR:228798 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f3437d20-81bc-44be-af90-3d625c32048e CLINVAR:3746 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen caeef2dc-69c4-481e-85f5-5e521bd524e2 CLINVAR:3746 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d2ab7bb0-6b7c-4f05-ad5c-bc9c8cb75e2e CLINVAR:251706 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1f2c6dd5-afa6-48f9-a695-1d63c131cdb2 CLINVAR:251706 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aeb262de-4e60-4ef8-bc08-19564bcc12cf CLINVAR:36450 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 51b81032-de02-44aa-b4df-bf4e5aad7726 CLINVAR:36450 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 57d95d6d-0bdc-4cea-95e3-1daa75f7ffb9 CLINVAR:161282 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ac0afa1b-afc8-48d9-8c28-c17c8a301f7d CLINVAR:161282 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1ec31f6d-f7d7-4a43-acac-bbdedd8e521a CLINVAR:251517 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ca49a349-6daa-4a6f-91f2-0cd9968064fd CLINVAR:251517 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3e63c778-12ab-4504-b134-b49510f2a8e0 CLINVAR:161281 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 69eb5756-86bb-4b8b-a2b7-7b559f6eb721 CLINVAR:161281 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 79432506-9e6b-439c-848a-862cc3c5ba6e CLINVAR:251603 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e819daa4-e8dc-4d4d-ac7a-3834a5a3bf5a CLINVAR:251603 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5e4f49c1-78a2-4720-ae74-e2d799b8391e CLINVAR:161268 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 05674695-d20a-4896-8418-30b23cd48942 CLINVAR:161268 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4a68d7e5-de41-41dc-a3b7-fda7b056edea CLINVAR:251106 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0dc33b7c-3bc1-48fd-b374-dfc537b6cabe CLINVAR:251106 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4b613ad7-174c-4ed5-8c3f-9042402400be CLINVAR:161287 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e0a2aa8f-72ab-4478-863b-279abe7e4751 CLINVAR:161287 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1cd36dc8-0d9a-4fdb-a677-809ba19a3ad8 CLINVAR:161261 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6a2dc9bd-aa24-4601-9d6f-7c86796bd0fa CLINVAR:161261 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3398d974-a247-45af-8b4a-9ac0c354f4f6 CLINVAR:251422 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a2bec90f-d2a7-4ab8-b982-fb4cad4602fc CLINVAR:251422 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8f4fe489-bb5e-4d44-890e-b15870850efd CLINVAR:251400 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f7514908-aa51-4819-911a-98b98d94f6a9 CLINVAR:251400 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3cb9feca-cf24-46df-92a9-e43f10666ffb CLINVAR:225402 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b77cfdd1-b5d5-45b0-b9b7-74b5f9df5de9 CLINVAR:225402 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 79564414-2aad-4d0b-84d7-5276947aab3e CLINVAR:251162 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ed7a47a0-a343-4e66-b919-fc6d003209ee CLINVAR:251162 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d4930f7b-f8ec-42bd-b711-d976902d3f36 CLINVAR:3736 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 23a1e917-d004-4148-ac3b-ce1196cd4f8e CLINVAR:3736 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7cf95f2b-9dc3-4708-a943-dbc36912f6a2 CLINVAR:161269 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7c13e166-6eb3-42b6-bfcb-09205df6b088 CLINVAR:161269 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 60c720b7-e018-458a-9311-d6969f090dcc CLINVAR:251100 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 371a85c9-8627-4ba6-b0ea-540a1f6e9d8b CLINVAR:251100 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ea0cda02-4abf-4afc-9d27-5f905efe3a6a CLINVAR:3685 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 99be210b-60bf-42d9-a051-fc3dcc248077 CLINVAR:3685 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8d3033f0-ed96-43cc-9fdf-ce3312fb6dac CLINVAR:161289 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 80724918-3e25-4892-b29e-7e35d4c0c323 CLINVAR:161289 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 23654659-c58c-4127-8768-2ee4204d510f CLINVAR:251034 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 18655259-0f3d-45b4-8888-cb43b818c8a9 CLINVAR:251034 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b3033bd4-9218-42ff-8329-f179822a8bd9 CLINVAR:250968 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 34d246f9-9291-4dce-9628-b4d77e4c2e02 CLINVAR:250968 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ab9d435d-c342-472e-8bc5-fdca95657ba3 CLINVAR:102610 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8a29b951-0300-4eb6-b7cf-528f6160c2c4 CLINVAR:102610 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fb93c509-56a4-41b2-8e8a-750838e2ad5f CLINVAR:102627 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5cd50b8d-b473-447e-9568-5c64662dca37 CLINVAR:102627 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a5a012b6-abbb-4e5a-9dff-8035c8f5d5ec CLINVAR:102766 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5f86ab6d-8505-4f54-b1d4-8dfca3104604 CLINVAR:102766 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e5f217ab-87aa-4d21-9007-c563a3e7be70 CLINVAR:102488 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3f04b537-7049-43f8-8e9a-499eb7d912a4 CLINVAR:102488 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cafc1a55-1a9a-4da8-ac71-7338c9d1fb72 CLINVAR:102521 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 077c648c-9a9b-463e-970e-af948cc3e0a4 CLINVAR:102521 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b89fe75c-1c73-4366-9643-0ca0a99cc157 CAID:CA16020794 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 30c9b9a2-4848-4b32-ac61-ab50ff3442b1 CAID:CA16020794 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4847fd30-6afd-4ad4-91da-02327de8c7a7 CLINVAR:102600 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a6e212e6-28c0-460a-a9f0-6fce59f015b7 CLINVAR:102600 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ac9caf03-28b0-472a-a95a-82c1d2bcd062 CAID:CA16020963 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen dc7ff8c8-b1b3-4bf0-bfa0-16d511f1e694 CAID:CA16020963 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 97634648-f47d-4da6-bb6c-bbe480ae2a50 CLINVAR:556817 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 579abdfd-2b94-4577-9dd4-b6464bb4a1d2 CLINVAR:556817 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0c952f06-ce85-491d-9497-f1cf273aa811 CLINVAR:14121 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8a5f974a-0914-49aa-bc1d-dbf4ef9f572f CLINVAR:14121 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 68f4da52-1920-425a-9eda-ed64f4043c26 CLINVAR:214322 biolink:causes MONDO:0011229 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 04ef1611-675c-44b9-9b11-c777fb1a6b41 CLINVAR:214322 biolink:is_sequence_variant_of HGNC:23287 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d7a57172-b384-4179-808e-78ce839f1f11 CLINVAR:496427 biolink:causes MONDO:0011229 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 938737c2-f0d3-4b58-80dd-92e02029b9ad CLINVAR:496427 biolink:is_sequence_variant_of HGNC:23287 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 10c16253-aaea-49eb-bac4-865291e87158 CLINVAR:504502 biolink:causes MONDO:0011229 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 29a364f0-24ba-4bb9-9a0e-85234455ce77 CLINVAR:504502 biolink:is_sequence_variant_of HGNC:23287 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f9dd189c-7d93-42c8-970c-4c1192b116a1 CLINVAR:1210168 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f23a711d-696e-4a78-b328-f2db41f65e09 CLINVAR:1210168 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1d447e34-6a0c-4c93-a3ed-f0f7f17ac07d CAID:CA772541579 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9bf5dd46-06b6-49c1-b3ff-95f7cf4a3313 CAID:CA772541579 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f3980fd5-c2fe-477c-82e5-5aeac3c01d88 CAID:CA290954030 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0106f973-f98e-4eef-b3a1-a255238916e9 CAID:CA290954030 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b3301703-5f53-4041-9922-019a1639e5d8 CLINVAR:627288 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a1d5d8d3-add9-488b-b8d8-e784af3ef7f6 CLINVAR:627288 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2e1c9010-065c-483d-a0ed-cbea61655396 CLINVAR:13568 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a51c6d43-66bd-42a4-a53e-6e7440812752 CLINVAR:13568 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5b0491df-8021-4525-83fd-c07741b5df76 CLINVAR:1210185 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 19b77af3-4a33-4433-bc7d-ec9a360ef7c0 CLINVAR:1210185 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7719b3ff-bd4e-4c10-babc-e158fdef3848 CLINVAR:695644 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 58515e5d-8129-4f57-84b3-43346f4dce02 CLINVAR:695644 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cc5a7589-4cc8-4891-9ce2-84eb9b494347 CLINVAR:13569 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5addc087-8743-4e06-8860-836c55929828 CLINVAR:13569 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 25b9f4ca-cd18-432c-b1fd-90d4e9c5c513 CLINVAR:1210201 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen cbeaaab5-9ef3-4ec1-902f-0f31f9e5271f CLINVAR:1210201 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 855bc2b9-b5bd-415b-b306-5aa63bbd0f50 CLINVAR:627052 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8096fcae-b895-4094-9994-2ddabf68b245 CLINVAR:627052 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dc78c22a-32fb-4bc8-b48c-cc62d7397ab3 CLINVAR:1210202 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e3db6164-4ec3-42de-a543-9e54dea04181 CLINVAR:1210202 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b858bf6f-7277-4664-b6f2-9baf64c4be82 CLINVAR:977130 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 60954e96-212d-48ca-a648-83e235226556 CLINVAR:977130 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1d2b01d7-c811-4aa3-a82d-326f4e50b6ff CLINVAR:13555 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a6b3b07d-7ee2-42a5-bb06-8b59f4aace05 CLINVAR:13555 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 56bbd41f-c1fa-4e6c-abf1-14cc27b152f5 CLINVAR:13553 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 302750bd-cad5-4a32-b9b8-cfff1f37df01 CLINVAR:13553 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c7fa6266-82e5-4784-9368-78fbed075e06 CLINVAR:1210203 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 886466fb-32f6-442d-9c7f-fafbfec29be0 CLINVAR:1210203 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b0ddcf8d-6eba-4817-b093-2d6cb672779b CLINVAR:977129 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ba8c0b13-a6cc-4ec1-8745-97551938b281 CLINVAR:977129 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b1185764-7cd8-44a9-8265-40e33928a839 CLINVAR:323865 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9ebf4a8a-676b-489e-aa01-92a93d82c1cf CLINVAR:323865 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d0b0dcd9-246e-4cc3-b6e4-598933c4840e CLINVAR:1210206 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1c537a98-e879-488a-a823-8a04ab77a024 CLINVAR:1210206 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 89a8d68c-8058-4991-b38c-e2e1ef9ffd69 CLINVAR:556718 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0b1d8611-1461-4cda-ac77-8cf446c75034 CLINVAR:556718 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b26fb6a8-0aac-4d35-ac0f-d7d8e7a76e82 CAID:CA915940722 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 05809807-5c28-4c14-bd8b-ea0f6da96003 CAID:CA915940722 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7094fdc3-faa4-413d-b9ab-d1b1f4c01836 CLINVAR:1210169 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 80b39b9c-b67d-41c9-9c75-824e7847b804 CLINVAR:1210169 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7db14a14-84e5-4c12-b86c-0ff9adf00063 CAID:CA400023704 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 42aa8ea0-ae94-4df7-83c4-e76288716b4b CAID:CA400023704 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4830c95f-d1b9-4dd1-aa5a-5a4a4bc4ce4b CLINVAR:1210171 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a7b7fcb5-5769-430f-995e-ea3a5ebc29b5 CLINVAR:1210171 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 59411903-037e-4725-8849-8e1c67d4c210 CLINVAR:1210172 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9f3c4c7d-049e-4b62-b00e-3bfc647bfef6 CLINVAR:1210172 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e284ea02-d955-4ac8-97e6-0441966982b1 CLINVAR:1210173 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2587a097-a749-4561-9809-dc3e6351c843 CLINVAR:1210173 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d39b610f-19c6-4b71-b14d-a86882dcec20 CLINVAR:1210174 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 238f5a40-5786-43a1-a1a7-61dbc08d6394 CLINVAR:1210174 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen be1bbe62-d25d-43c1-99dd-e3693c6b3977 CLINVAR:1210175 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 00cf4093-5793-4ebb-a27a-2fc5f494c38a CLINVAR:1210175 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 42d93720-896b-4318-9781-9f6fa12486c4 CLINVAR:1210176 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6b623b0a-d7e7-4e20-9c4a-57a1ad53ac7c CLINVAR:1210176 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 29862aa0-814d-4e33-82b6-60fa7271792b CLINVAR:1210186 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen be058d90-c448-47d2-aa0f-1c26fba0f5d2 CLINVAR:1210186 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9a429f69-24e9-4bf1-9094-537c77cdf688 CAID:CA915940376 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6248b0bd-eff9-47ab-9774-1e6928abc8b8 CAID:CA915940376 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3a7eced1-a9ff-4dd6-8c9e-02bf20fee96c CAID:CA915940375 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3b6e0685-8d66-487b-931d-220888a6cac8 CAID:CA915940375 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dda89363-7245-4418-bb5b-a272acc08de7 CLINVAR:1210188 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0c58cee1-b808-4a59-b078-463806324be8 CLINVAR:1210188 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5d2e22e2-4bcc-4eeb-82a0-f5c2a474593d CAID:CA915940723 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9a44adc2-9e36-485a-b676-0c95f442a8ca CAID:CA915940723 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 06c81019-9fb3-4d9d-a17c-59f3645d14a0 CAID:CA915940724 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen fb9a2f5f-94c1-4bd4-884c-1c0bd4a9b01d CAID:CA915940724 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 16e77ab3-c78a-48a1-9e6e-45660126903d CLINVAR:1210191 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen bb70c75e-b7a6-471e-87bf-84973d0aefbf CLINVAR:1210191 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7c724d1d-2925-41e5-b445-9a9976af31e8 CLINVAR:1210192 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9806c38f-9aba-4537-a7de-4910ac906a36 CLINVAR:1210192 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 692eb9ce-9f03-4c8b-a3fe-a39bc9cbc86c CLINVAR:627239 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 392b685e-cba4-41d6-bdc5-ee8f0cd83a7c CLINVAR:627239 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 07ef1537-ccea-474d-af68-e442a4b8bc76 CLINVAR:2902 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen dc95c586-b7e7-4fb9-aa1b-41db8d1e4b66 CLINVAR:2902 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4fbeab3b-6262-4f03-91ca-ac0b60fde44e CLINVAR:631773 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0c3b8b7b-e76c-4e1b-a379-155dcb1ec343 CLINVAR:631773 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 166c48a0-a3c0-473a-b2bc-245efd2c1534 CLINVAR:977127 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ee03f479-7e21-4fea-9125-98747ceec02b CLINVAR:977127 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 673bf809-e758-4653-a5db-1821f6a84598 CLINVAR:971253 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4ad17d92-6298-4276-94e1-cc8ca32a2ca3 CLINVAR:971253 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 104d800a-e64a-413b-a9b1-ca0a882d2523 CLINVAR:627292 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1750a1bd-a741-477f-872d-417d8526d532 CLINVAR:627292 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 91bc70cd-d896-4529-b503-f8814314fa2b CLINVAR:1210204 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 907dae2a-5aa4-4fef-ab4a-3e1344ddd8be CLINVAR:1210204 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5f3dc61d-918a-4674-bb3b-add6816acbba CAID:CA399803781 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen cc844774-4e04-4aac-99ac-cf33fbfcd496 CAID:CA399803781 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e257729f-a7bd-447b-b318-fab1e9e43f5d CLINVAR:458368 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e1a59978-54ab-446b-9b92-6e856b67a14c CLINVAR:458368 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e71b9bf9-2b0f-4b0b-b125-eda4066d4ff2 CLINVAR:627093 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a8752d8d-cd06-409b-b614-79fd7f9ea883 CLINVAR:627093 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 228eed3e-faf1-44ae-9265-10d609c58ef2 CLINVAR:977128 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a333f91c-826a-4494-8343-a7a04d536146 CLINVAR:977128 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ee7c8a26-503f-4d40-8b28-e7bbc45a0387 CLINVAR:2889 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d10cee60-8cdd-4d37-af46-717b0455a90c CLINVAR:2889 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 869b78e5-a9ec-4f7e-8341-55043b3d8614 CAID:CA400033218 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7bac41d0-a81d-4ec7-9334-fa5d6a6c5900 CAID:CA400033218 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2ccd2ceb-6b9b-4fdf-a9dc-9164e4c72546 CLINVAR:1210209 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 913c7568-fe08-4c76-a5a8-be92038702f2 CLINVAR:1210209 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e84ab716-0885-4c09-bdcd-a61cfe9526ec CAID:CA291224645 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 64c92a9c-b53c-4aea-9857-9ed89ba6b5c0 CAID:CA291224645 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1271edfd-9b18-43c8-84ec-514a7e638bb8 CAID:CA400023604 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e261ca49-51d3-47e9-8c0d-f7b7e1db72f0 CAID:CA400023604 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 78d61869-0680-4d99-a0f4-193fbdcfab33 CLINVAR:800945 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c1f84610-b136-4e6a-8329-248fa512e015 CLINVAR:800945 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0e852745-5957-490c-83d1-22c81a4d7d47 CAID:CA915940593 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5bccc09a-8022-4f96-9e3b-f81b46141b8e CAID:CA915940593 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 20c64831-c91d-444d-a260-c066935bad91 CAID:CA290947484 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 90fcfab7-8377-4295-9b91-d10f99f18cd6 CAID:CA290947484 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f28858b7-bb8d-4992-afc3-5032fe997ace CLINVAR:1210180 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b42f767a-4c86-4815-9eaa-8b9787583532 CLINVAR:1210180 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0733616f-db76-4ca0-9950-47bdf5cb92d6 CLINVAR:1210181 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2a5fa1f1-5403-4bc4-90da-febc4b9fcb5c CLINVAR:1210181 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 02e52cd3-bd1f-40f9-98f8-820b81d85911 CLINVAR:1210182 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6c45bbfc-cf69-42b7-82db-57c32cb95c47 CLINVAR:1210182 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 29496bd6-adc9-446b-bde7-b178469ea832 CLINVAR:1210193 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3dfa8339-c523-42e9-8fb6-c5e03c1c27d6 CLINVAR:1210193 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7ff3811f-cfcd-4e30-944e-20ae10adaff8 CLINVAR:952998 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6b717d19-f2fa-4eea-8f34-5c3dbfacd9ca CLINVAR:952998 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f3b120d2-7c82-4b99-b1df-e93083b6f285 CLINVAR:953028 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5245a677-040f-4387-9bac-b8f491409e69 CLINVAR:953028 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a43a045e-7b15-41ee-bfdf-1a5c245639da CLINVAR:953032 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2da112b1-b887-4d64-8ff7-f04bfa015501 CLINVAR:953032 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c23b3990-e1d3-4d67-87e4-a0f796a4851f CLINVAR:2903 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ad538d45-32f3-4fed-ae1f-9cf2b490f457 CLINVAR:2903 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 40a8369f-e358-4908-b667-d4998cb088f5 CLINVAR:627296 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 46af7500-7d4f-4d1e-92d3-595563f88185 CLINVAR:627296 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dee4323b-a9f4-4d5b-9947-85639e5b2453 CLINVAR:953037 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 51c951ac-2715-4580-90cb-79c23021c42a CLINVAR:953037 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 834e4122-c241-4cd4-853d-7e0bcd0ee74f CLINVAR:13564 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen cf98b003-16b8-40a2-b351-35ddab7c314a CLINVAR:13564 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1675ac3f-deb0-48b4-9660-ff7dc9bd37e9 CLINVAR:953016 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen cce87798-852a-417f-8186-c6439af6837d CLINVAR:953016 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2d1f6318-0666-4fbf-abe4-5e8f8a76ed55 CAID:CA8623361 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c7a11097-b498-44db-92a6-9884bbad0f01 CAID:CA8623361 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f5d2b0c9-2477-4e84-a417-bc93a6dfa6fd CLINVAR:953046 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen dc473549-23d9-426b-aec1-a8d2aa90ccfe CLINVAR:953046 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8b9bfcdc-e6bc-4a63-813d-f4dcf359ee29 CLINVAR:977132 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 009fedf9-5a56-412a-94d4-58290df3a3a4 CLINVAR:977132 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 19d8f72f-2868-4cff-83c4-cce79703848a CLINVAR:1210195 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1fa29404-a6f8-4d41-937f-772e159992d4 CLINVAR:1210195 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b629f96e-12b5-4df6-87e2-f2fc3abea123 CAID:CA915940296 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7cd65b2a-0d4d-4a76-aeae-7ab93e4ad718 CAID:CA915940296 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cac63b86-8b69-4381-8e2c-6ff002f20d9b CAID:CA915940787 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 59626474-afaf-436c-90ac-78e2a22b160c CAID:CA915940787 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bcbbb491-782b-4a8e-ba87-c32e6f96dbb7 CLINVAR:1210198 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 16c24864-d4b5-4ff8-b628-f64895e9b7dc CLINVAR:1210198 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bc65842b-0887-4ec6-8be8-011926d8b59a CLINVAR:850886 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1cb171bf-f952-4932-a680-dc5c0d5292af CLINVAR:850886 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8c844619-4271-4851-8ac8-0cef18b63bb7 CLINVAR:1210199 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d28daa81-73fd-46d9-9013-53654cac797b CLINVAR:1210199 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9d869aea-7b19-414d-9cd8-fa7f5451c72b CLINVAR:1210200 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen cd05925e-47b2-4104-bc92-7adb267e69ee CLINVAR:1210200 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 55a72efe-d9b7-4cc2-b31b-af0b936e4096 CLINVAR:2898 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2c9063f5-214c-4eee-af35-b52109fbac51 CLINVAR:2898 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 49f348db-7cd7-49c1-8034-ac244fbe5499 CLINVAR:2894 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 09feb029-3686-416c-aeac-b6658a32a4c8 CLINVAR:2894 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 18de8883-cc92-47e8-bbb8-c4db20248bd1 CLINVAR:854735 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7b8a739d-5a40-4d91-b1f0-dfc05cc1d683 CLINVAR:854735 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0470e6a8-87fa-438f-aeb1-02ceaa7dc5be CLINVAR:13567 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a459ffe0-7d01-4fd6-87d5-ab7e143fa412 CLINVAR:13567 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 648ec7ca-f7b9-4588-a17b-398ae2c3ede0 CLINVAR:1030781 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4aee2246-aae4-4895-92a1-e24c59bfa45b CLINVAR:1030781 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3d79d9d6-bdcd-4603-a251-cffca9e46344 CLINVAR:627273 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 45e02516-5adc-4cc7-aa11-a0ada9495567 CLINVAR:627273 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 35eeab4a-91d0-4f35-8e13-4d304ad5b04b CLINVAR:1210210 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4d7e9b31-ad04-487d-8f78-d9c72573657f CLINVAR:1210210 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2a9164e9-7634-4972-8544-3e96a5f1039e CLINVAR:2899 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1ed7be68-2f0b-43f5-beab-6f4a55fe6ade CLINVAR:2899 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a77c1a6e-667f-412f-bbb9-6895fb4a17a1 CLINVAR:181368 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f9835995-1975-485c-837c-60050b87f5e1 CLINVAR:181368 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 114a07f7-1fd9-4cee-9f45-a56c505d9676 CLINVAR:42826 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 514ce788-ac95-48ba-9d38-0830dfd22a15 CLINVAR:42826 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eb2c401f-66d6-479d-9380-cef8604b34a1 CLINVAR:43100 biolink:associated_with_increased_likelihood_of MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 35cb89d3-7b28-4f1e-9c32-ba395df288e3 CLINVAR:43100 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c4b5aff3-0246-4d5f-a6c9-230d8513c3fb CLINVAR:181195 biolink:associated_with_increased_likelihood_of MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f156dfa7-c699-41f6-a8f5-d8b21dab2ecc CLINVAR:181195 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cb0ce5ef-faf1-400c-a729-4e70a61fc375 CLINVAR:217468 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b49d3b26-157a-4007-a74b-33f086d35eeb CLINVAR:217468 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 094df356-6f86-4d81-b1d9-cc523775bd5e CLINVAR:164289 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 184606ae-9a87-47c8-9fd1-fab4ba347e9d CLINVAR:164289 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b17e4181-275a-4ca7-8ff9-7c0ab687f376 CLINVAR:14093 biolink:associated_with_increased_likelihood_of MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b398f777-c77b-4a9f-8f3e-cd88695c30a9 CLINVAR:14093 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 26e8c54d-2092-4749-921e-0e6664d8217c CLINVAR:36638 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 67914d19-0af7-4ff8-a935-93ce3eaab6b6 CLINVAR:36638 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f622931e-279a-4b49-aa2a-f147713bc5e3 CLINVAR:42818 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f4688507-915a-4263-80bb-4b77ebb48f7e CLINVAR:42818 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0903fffd-d713-4609-9116-244c47e289e6 CLINVAR:36637 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 024b8fd5-dfaa-44ce-b9da-03fe79fc9b7e CLINVAR:36637 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen db9bfc2c-6e14-4558-a708-680f6d675663 CLINVAR:133165 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 38619fbf-ebf8-48d6-a799-dbea0a473557 CLINVAR:133165 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 37ffe467-979d-4ca1-be56-f5158cbfc9e4 CLINVAR:374974 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7d56281d-82df-4996-b0b3-ff398125c475 CLINVAR:374974 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 01b9a001-91c4-40ac-9840-5bf51020248d CLINVAR:590517 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ea745d2e-6a71-4732-b82e-a689c1fa79ae CLINVAR:590517 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0dd2a2c5-b1b4-445c-82db-57890a6bf159 CLINVAR:133168 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6a7f834e-fb0d-4fc0-b437-ba7fdfffa8cb CLINVAR:133168 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 025ff849-3057-49e8-a044-129e6ff50c0b CLINVAR:590482 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f0567fee-99cf-434a-9c28-564efa1a24c6 CLINVAR:590482 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cdb05df7-74f0-4add-990e-57493c0f4fce CLINVAR:1050940 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 772bd1a7-943a-47bc-9269-00dc94320e70 CLINVAR:1050940 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 702b0d16-e300-4aea-860c-69056d3e1d6a CLINVAR:808527 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen dfe5281c-f367-4789-94dd-921ce77c0219 CLINVAR:808527 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fe3e87c9-9a6f-4aeb-9757-a159e3a48894 CLINVAR:133146 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ee018994-0353-4550-90dc-7f9d1b751027 CLINVAR:133146 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 91750109-9042-4d70-af37-c283eeb74695 CLINVAR:889434 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 86960e74-4db0-4b49-8287-92f5df55580b CLINVAR:889434 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9a2b4708-e99c-4c2a-977c-e4f710ac3edc CLINVAR:133166 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 674b2079-20c3-47f4-aad9-05438e09824b CLINVAR:133166 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 78fc6f41-7a98-45e4-9459-5413671234f4 CLINVAR:478249 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen cbff9b34-73ae-48f7-8a5e-c4a37f67719e CLINVAR:478249 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1f450d37-04d4-467d-adeb-2e44c00cb3d5 CLINVAR:1210307 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 36830281-dce6-426a-9fb6-9ab7f5b9f100 CLINVAR:1210307 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d7af3f4a-5a6b-4314-8baf-25af0fa1ce12 CLINVAR:1065119 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 37a1580c-3ae4-4c51-97fa-57ad6f590fc5 CLINVAR:1065119 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f27d74bb-0c2c-4d9c-b900-b5120c166a12 CLINVAR:590575 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 53b38352-d523-4b96-a9be-d900fff8db50 CLINVAR:590575 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 61bc815a-b66c-42e8-8281-142533b4eb1e CLINVAR:65968 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3f417c9d-a9fc-4f6c-b0ac-01f9966a9237 CLINVAR:65968 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c580d214-fe43-4059-9f71-d3fb9f9caac5 CLINVAR:567662 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 52a87cc4-e5b4-4945-9502-3d0e50b13654 CLINVAR:567662 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2a9ac0d1-a5f4-4da9-bdc3-a86505eca596 CLINVAR:590454 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 603c716a-03da-47f9-955e-617e82cce516 CLINVAR:590454 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 763087ef-c095-44f5-8c74-8f95fd9cbcb7 CLINVAR:590556 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3c8a311f-6aca-4ba7-8d61-0154ceeabf22 CLINVAR:590556 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7c5c892b-3b83-4456-acf5-6680fb9f8c3d CLINVAR:133185 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 36ab8d95-8178-4c84-b628-c2a87819b494 CLINVAR:133185 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 56617f3c-e53a-48b8-bded-ae536d4ab8ec CLINVAR:133179 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 64f05f88-3145-473c-ba60-c23d09f6487a CLINVAR:133179 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 80173a62-cf60-4972-bb03-02668ff23dee CLINVAR:167614 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6821aa1e-150b-4657-bed8-fdd922fea186 CLINVAR:167614 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f7f4ce8b-5778-4791-99e0-49d5c72e173b CLINVAR:133081 biolink:causes MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b0b23fd5-fc0d-4f1a-b677-fdb04adb57b1 CLINVAR:133081 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 896f4120-5bfc-4643-81a5-e6ec997aa2d1 CLINVAR:590580 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ebf286e4-a37c-4878-bb6a-c5eb3e57a91c CLINVAR:590580 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bac6290a-9045-414e-82de-cf81ed11fc6a CLINVAR:1210316 biolink:associated_with_increased_likelihood_of MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 505c1e44-72c2-4ec5-88fd-bf37dc402326 CLINVAR:1210316 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 87ed5cab-394c-41e3-a474-f8f6bfd46b85 CLINVAR:1210317 biolink:associated_with_increased_likelihood_of MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d7726ba4-1053-47f3-a604-4408526ca106 CLINVAR:1210317 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9dbc187b-8637-427a-89ad-e1d8e0760cf1 CLINVAR:133172 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 731d56a5-1166-4725-97e9-5ddce7bd9441 CLINVAR:133172 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c2a7f321-34c4-4bf7-879c-c2ab65bea17c CLINVAR:133126 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8949474c-ad27-46d1-9360-10da7d74b306 CLINVAR:133126 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen be212bd6-bca7-4004-bb18-d39196d0c70d CLINVAR:133018 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0eac3739-229c-427e-a5ca-fe4717d1cc5a CLINVAR:133018 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5987733b-2ad0-4f28-86d6-1e7e5fde21c3 CLINVAR:133124 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a1f6fe27-5ef5-4937-9f1b-b2eaa26a0aed CLINVAR:133124 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 105c86bb-a816-49c1-9baf-933f620eb599 CLINVAR:1210308 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 51f58688-7fe2-4068-a519-72df761ede5c CLINVAR:1210308 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 43695f09-a0b4-41d2-8d49-71e9f468b1a3 CLINVAR:133135 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen af677e06-101a-431a-a829-72f6f8aa80bd CLINVAR:133135 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1fa10b1e-fa01-4541-a8e3-11aa4f932276 CLINVAR:1210309 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen bee125e0-3ec6-4345-8203-a0e5d9323e56 CLINVAR:1210309 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9ef909d6-0175-4139-bef9-0d47180741a9 CLINVAR:133145 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4575fef6-6030-45ce-ab1a-62f26dd98b00 CLINVAR:133145 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c7ad8923-500d-4bd1-aea2-44540f9ddc22 CLINVAR:133150 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5feda24d-868b-4fd3-bcb6-9bdd9f34ba82 CLINVAR:133150 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c1286563-6550-4da0-92f0-c29255b5c43c CLINVAR:1210310 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 205a82d7-c68f-4442-bfc7-74d07deb6a23 CLINVAR:1210310 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d053639c-5519-4525-be96-4161979a67e2 CLINVAR:1210318 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e0e6274a-ec23-4ba6-a509-e1c3cede6487 CLINVAR:1210318 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c90afe20-01d5-404c-aa05-8f3c50028e21 CLINVAR:1210319 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6dd60f68-6971-411f-ba22-0f67904f95fd CLINVAR:1210319 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 295ab8b4-6f55-4d49-9910-0ab6a9a9d2cf CLINVAR:133158 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 62a75973-03db-4edc-a350-509c6773f888 CLINVAR:133158 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1630a6d1-4b8a-4241-86e4-55775518b8a8 CLINVAR:133161 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5b24b91b-4e05-43f2-a5d3-1a5301c381a5 CLINVAR:133161 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c59e9c94-3ffd-4cc3-b699-fbc3330a3d2c CLINVAR:1210320 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 74739acf-1583-4fcf-ad24-6d777a1d06aa CLINVAR:1210320 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4b07fabe-b2a4-43d7-a8b7-69e0068a88af CLINVAR:133157 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e3112354-dcdb-4851-bc82-13206eabdd10 CLINVAR:133157 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 18490eea-26c7-4a78-a570-de73233a2020 CLINVAR:133162 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 19a3a9dc-c934-4536-83b4-f7964f90c94e CLINVAR:133162 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f52eb1fc-5c7d-49f2-be3d-c713380e66ed CLINVAR:133159 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen bede7792-5174-4c0d-9973-75dfa458690e CLINVAR:133159 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c25e6d77-41c0-4e7e-943e-5ab41410222a CLINVAR:133017 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 601b6774-7a6c-4f59-80b8-d12206d411b4 CLINVAR:133017 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aee9212c-ebde-4314-9f20-41dd8f54104b CLINVAR:1210298 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen df83ff70-cc2b-492e-b180-b8881fdf707e CLINVAR:1210298 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2b0c5b4b-81f6-43a4-b52c-a36f10162725 CLINVAR:1210299 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 951e5042-0559-4b87-b579-dd330b087221 CLINVAR:1210299 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 53ecd42c-6eb5-4adb-8eaa-c92ffabfe052 CLINVAR:133156 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0815617a-a64b-45dd-9ada-2d9f692e2033 CLINVAR:133156 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3c84774e-41e1-4a35-9558-8964ce4ec6b8 CLINVAR:978526 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4276bb98-e344-4aa7-8e58-b0408f2fe311 CLINVAR:978526 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 83e1e5fc-ede7-4a25-adcb-761ca31dad8f CLINVAR:1210300 biolink:associated_with_increased_likelihood_of MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen bd6f4099-f635-4aef-95e8-c1b1dfaacb44 CLINVAR:1210300 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9e4a742a-6139-494a-bd95-cc863595d3b7 CLINVAR:983140 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1d60e379-d82a-4c1b-8b54-6a0a87395aa2 CLINVAR:983140 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 15d68574-29a3-4544-b853-931184d97ac4 CLINVAR:133104 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen aff9a3d7-557f-4707-94dc-3c19fdda7072 CLINVAR:133104 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 39f8bfae-42ca-4fde-8aff-b1e286957b5f CLINVAR:1213684 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 472f6894-6c44-483f-baba-ba1c00431941 CLINVAR:1213684 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 69d6b625-e381-4933-821c-ba948c3e23e3 CLINVAR:1210301 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 34b78fe8-4dfc-4158-a8ec-8741836114c9 CLINVAR:1210301 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ab9ff1fc-91ce-4e1e-9164-905f8d2bceb5 CLINVAR:1210303 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fe15824f-ce3b-41d6-a310-8d69ec7d572d CLINVAR:1210303 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 58c15a18-5ae1-42ea-859b-e77e5660b082 CLINVAR:1071064 biolink:associated_with_increased_likelihood_of MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 57e96e5d-e17e-4e2a-89f4-1ae352874d5f CLINVAR:1071064 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 05ec5dae-1ab6-43f3-9e10-46d563d98c43 CLINVAR:1210304 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d5f31624-2ac6-41e1-9d12-4089c7c921d1 CLINVAR:1210304 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7a0138e1-70fa-4818-8dc0-ee7f5ca434a1 CLINVAR:1210302 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d25478e1-2c0d-4044-8f02-0ed02f98568a CLINVAR:1210302 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 84fd3090-2578-45af-941c-db0714e83f5d CLINVAR:1210305 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4d1b5f87-22c1-46f9-aa91-b04c32262952 CLINVAR:1210305 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 95fe70be-e9a8-4278-af77-a604929af458 CLINVAR:1210306 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4fc5ada9-dbb7-4f63-94ad-7a3aac577db0 CLINVAR:1210306 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ba1a82e6-8c2a-4e44-af1c-f9d10a207dd2 CLINVAR:1213682 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d872dd03-bc45-487a-b7fa-2e13fce739fb CLINVAR:1213682 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8e5f2dbe-201b-41b7-8efd-0aa50801cf2e CLINVAR:1213683 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen aab79cab-a284-4d76-a5ec-220894acbd4c CLINVAR:1213683 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 29eca292-11ff-41bc-8f76-dd81304c8108 CLINVAR:1210311 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 73832c1b-8335-4e1e-9bca-97844ba545a5 CLINVAR:1210311 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fb3c1028-2aaf-4b26-aa20-6baa231a9514 CLINVAR:1210312 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 15e9e4f1-52ee-4afb-97a9-da2076c62696 CLINVAR:1210312 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4831d931-62a2-4077-b51b-8fa44a6b0db1 CLINVAR:1210313 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 52744bf7-ee76-4096-b8d2-9b7ac19821f6 CLINVAR:1210313 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 68a428ba-ddab-49ab-b937-52535c9ca9ba CLINVAR:1210314 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 23d0cd6d-bd04-4799-88ed-9bbc8dfbde05 CLINVAR:1210314 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e3830be3-67c1-46c8-9b73-88563aaf10b9 CLINVAR:1210315 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6ad2887b-e9b6-4a3d-bacb-fb1016916d05 CLINVAR:1210315 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a9063940-cd5a-415f-83c5-ba1325ab6e15 CLINVAR:1004840 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e9fc1c5e-cecd-4493-8747-2c6a94b88171 CLINVAR:1004840 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1c22bf01-7424-42e9-a3c7-0faa09e3c5f4 CLINVAR:329032 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 986e7da7-03f9-4cd7-bd3e-c86bec25f364 CLINVAR:329032 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0c35f854-2d0c-4796-80f4-5e40fa91b7fd CLINVAR:329033 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f1700e30-cdf5-496c-a5a5-3fb036936b76 CLINVAR:329033 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen de98c579-8d02-4730-b2c6-bc54be723f61 CLINVAR:1213825 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 53f0324f-c393-45c8-9c40-22511bb566ac CLINVAR:1213825 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d8185a01-75ad-4553-88d0-06f3cc2932ec CLINVAR:544383 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b5263ef7-b0a6-4aee-bf5a-27d61a741fc9 CLINVAR:544383 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cdce4e93-7586-428e-b20e-3e38e57694b7 CLINVAR:1009683 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen cae18e20-29cd-4880-9b47-f9b57050cec2 CLINVAR:1009683 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4726e5ee-d909-4cb6-9c8c-74c3858e4b3c CLINVAR:1213827 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 75a3cc3b-c162-4749-b597-7bb99ad12d09 CLINVAR:1213827 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dcc9d49d-fee2-4002-a577-3e54459f6112 CLINVAR:544517 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 74f1068a-a053-4f0e-b246-2dcd29a2ea05 CLINVAR:544517 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e4516c9f-acb3-4762-a599-c7b32e928d6f CLINVAR:1213820 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6f02c657-4c49-4b68-9ed1-1fe68eb7347c CLINVAR:1213820 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b3222b78-a034-40ee-a6b1-1ae6f0a9c2e0 CLINVAR:590571 biolink:associated_with_increased_likelihood_of MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 466901f3-363d-49fe-9b85-68d1f2065e7d CLINVAR:590571 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 170ed61f-3189-4072-a87f-9552fcea82aa CLINVAR:133163 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e61b7b9e-6f5a-447f-90ae-9b20b803afb9 CLINVAR:133163 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5cbaf54c-d0c3-460b-a895-38afce14a34e CLINVAR:568713 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1c57c31e-b0f3-41cf-936e-3ebaf0f268c2 CLINVAR:568713 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8488f75a-9b43-4024-a303-d081fded90f9 CLINVAR:590574 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e46d9cdc-d6f5-4ab5-bba9-717c37d0e658 CLINVAR:590574 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9ac2cb2f-009e-4933-8821-51b66f7169ed CLINVAR:1213821 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2403d15d-8d62-4708-a12a-551f12da1c12 CLINVAR:1213821 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 73d3599c-88be-42da-adb6-07eaed60d2af CLINVAR:133178 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 703a17aa-d5a5-4f41-916e-a6d1a034c8b0 CLINVAR:133178 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ddd3bdf0-5c93-46f9-9de7-51e2e350c3be CLINVAR:133181 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 730e1205-f5d7-411b-8d42-ea650fe1960d CLINVAR:133181 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0da6ba96-946b-4290-aa0b-8c19c6898b12 CLINVAR:133184 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b7675e70-925f-455d-9538-b4be63b39a7b CLINVAR:133184 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0eea6ba5-447d-46db-9f4b-8f3a3e4c47b7 CLINVAR:544455 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d59977ef-f307-4b51-bf4c-36118785acb5 CLINVAR:544455 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8ed98b2d-987d-40d2-bd87-d652227e42bc CLINVAR:133077 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a5bae063-f76e-44d3-a7bd-e57d4f760ae7 CLINVAR:133077 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 11989ecc-640a-4479-abbc-9810a5f29228 CLINVAR:133082 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 39057d7d-339d-4056-8c2a-f635f055f85d CLINVAR:133082 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fb0b783c-9aa9-4eb3-aac9-ec2e8ddfbfd8 CLINVAR:65988 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b52d2ac1-898b-4544-af4e-a72e29d6b716 CLINVAR:65988 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cdbf1b45-60d4-4487-a17f-d498a2a04154 CLINVAR:133087 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 63ff5eb4-e650-4ef8-b356-4839b2ac5ace CLINVAR:133087 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8b86c5f1-7c9f-4cda-895d-f34488250e83 CLINVAR:65955 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 65a9ee50-f1b2-4dff-8f45-67ba8b6c36ae CLINVAR:65955 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen be6787b7-ae40-4dbc-9b06-0efd8d1ee11c CLINVAR:1213822 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9c52f101-fe1e-4d43-9cfd-bc2795434873 CLINVAR:1213822 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c5e0c67a-0e4b-4098-89c3-0d37296eadae CLINVAR:1213823 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 967dd3f6-8cbd-4c4b-9030-86622c3ab677 CLINVAR:1213823 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ec4292f5-005b-475a-a448-6e729918e8da CLINVAR:133075 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 43fbb902-7764-46e2-85ef-d4b88d5f06e9 CLINVAR:133075 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8b1f4d68-556d-4323-8ea1-91e03cfd6e2b CLINVAR:1213824 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b259b64c-2315-46af-98a7-e7676f891ac5 CLINVAR:1213824 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 97ae9d8d-0a88-4477-985d-9bfc6d98c4ef CLINVAR:590472 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 695e3a00-71a8-431a-8515-0dbdf76296ed CLINVAR:590472 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 61d024a0-9414-4cff-b3f9-4551b8c4c690 CLINVAR:102675 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5d0fe1ef-c6db-4f4f-a2fa-c2f7d628283a CLINVAR:102675 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e3ed0384-2f63-42b2-b1b6-3f23f61aea19 CLINVAR:102768 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f419f49f-5d47-42f8-bdc3-d21f4721c4db CLINVAR:102768 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3170195c-6f1f-464d-850f-ad1cfe455f09 CLINVAR:1327560 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen eca9bf77-2c49-42c7-aa7c-def80e9808cc CLINVAR:1327560 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e300c071-3a65-4e70-8c16-88c22aa48d71 CAID:CA16021003 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen aa06b727-4132-4105-8501-565d7c7a34ba CAID:CA16021003 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2605ab0a-0bf2-4991-bcb3-5ce764838816 CAID:CA16020936 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b8952ab8-88cb-4c4a-8057-21040c872397 CAID:CA16020936 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4f5657b6-26f2-47f8-99d6-75dd896b2c27 CAID:CA16020941 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 91daf8f3-5433-4c4b-b7fa-168e46115230 CAID:CA16020941 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 55abc1a5-7ae3-43fc-95f4-c0b447c09baa CLINVAR:102860 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 30bbb069-e52b-46b5-83c0-fe8c71dc9b6e CLINVAR:102860 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 501ad8f4-af4f-4232-bc1e-bf6654ef50d4 CLINVAR:551270 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 60b7519c-39ef-4df3-8ff9-60ff58b8311e CLINVAR:551270 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 61c5ccbc-fd5b-44a8-8457-f0dca70c2c84 CLINVAR:1327501 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2b176b8e-0465-4f89-9c9e-f7ac0efc5bc1 CLINVAR:1327501 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 100471e6-faa4-43c6-9214-b0f40ab405ca CAID:CA891862619 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8e7b7454-3669-4663-be1a-cac04dff886c CAID:CA891862619 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 04c8a160-f649-4975-af13-3dad8098a615 CAID:CA658795288 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1d23dd74-4016-4ca6-b754-1d4b05116c10 CAID:CA658795288 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eb89517d-548b-4d99-85f9-f17c91a3418c CLINVAR:1693552 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f88354f7-8201-4a16-9b21-b0b0f60bd58e CLINVAR:1693552 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 67e693e7-1107-419a-a69f-f78de1cde67f CLINVAR:188806 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b3b80ab9-fd6b-41e2-8d8b-8562d3be1d66 CLINVAR:188806 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0ce6bf41-8165-4e37-abbe-506d78f5cf76 CLINVAR:194154 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8c6a6165-f5e7-47d1-91ed-53f27fde5d40 CLINVAR:194154 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8391502e-2758-4c55-990c-bd25659ec63f CLINVAR:4029 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b76fcddd-8075-4fe8-acef-0f6eebee37ad CLINVAR:4029 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d1509ba8-93cf-4aeb-90bd-d7d2eea07739 CAID:CA251545 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1b78d3f4-7898-4f1c-8a72-4215b5bd9c77 CAID:CA251545 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5c228007-09ec-4e0d-8237-5bcf654a2cfc CLINVAR:558612 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0de1b746-84f2-41f8-9475-b54a1dcda100 CLINVAR:558612 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4b75cd18-5d44-4020-a34c-a20a39d1cd51 CAID:CA16020968 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3d66f764-be51-43a2-8e1e-016f5564e4f4 CAID:CA16020968 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4e9972ba-bd0e-4835-91e3-6144b93fbeb1 CAID:CA16020934 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7594faea-9fda-4290-8213-1218db20b275 CAID:CA16020934 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8ae5713a-dfd2-484d-b8b0-ba9c718993a1 CLINVAR:552488 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 29aae5fa-e4dd-437b-b17b-15d0820f6d3c CLINVAR:552488 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6f2daffd-7aa5-459d-b0a1-278658f9ebd9 CLINVAR:660581 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 445feaf1-0a9b-436c-bac8-0d09f257ce1c CLINVAR:660581 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b9780a08-f00c-4e04-92c4-ec335103b039 CLINVAR:102538 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d39b054e-2c0b-4dfe-83c4-748a9baf3837 CLINVAR:102538 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5a002ecd-2380-475e-92a0-04a1a0e42a73 CLINVAR:102771 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 10b72335-64d7-4ca9-9268-9c6db32e9579 CLINVAR:102771 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 28be89b2-9bc0-487e-9e8c-bc6a86b23d00 CLINVAR:102773 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 67b4fea3-a217-4433-8715-ac1c7b28d218 CLINVAR:102773 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ec158374-1690-4c58-90e1-6eccf6411e17 CLINVAR:102775 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 88ad8910-b799-4eb6-bafa-1b5e49a09b12 CLINVAR:102775 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 71156c95-b87a-4db5-84c8-d2147aa6a001 CLINVAR:234613 biolink:genetically_associated_with MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 233b77eb-bad0-4843-b06a-3e001dfadf5b CLINVAR:234613 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c1d14f18-3035-4d9c-b533-581b4b3d0e23 CLINVAR:1292057 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2ba10f69-839b-4911-9a63-8672e0ee4da0 CLINVAR:1292057 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 86550dbd-7d06-4340-b9c1-2cbf38299bfb CLINVAR:102861 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ba8304f1-e716-4c1e-99cb-9c77282f6c4b CLINVAR:102861 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2d5b7886-763d-43b9-b3d5-eabc6cf3026f CLINVAR:237950 biolink:genetically_associated_with MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5a0d2376-707b-4622-ba10-9b35dad90dcb CLINVAR:237950 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 763eb3a8-3391-48ee-9349-8bf8199a59ed CLINVAR:406604 biolink:genetically_associated_with MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e575ed83-64c8-40ba-984a-57d2af126f1e CLINVAR:406604 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d3f2c82d-dd03-49d7-8940-e7434c11fdb5 CAID:CA16020837 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8b508ffd-9e4d-4d1a-aeee-e1b7c632da27 CAID:CA16020837 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5f360611-e311-4b3d-9193-85a25fb78971 CLINVAR:557425 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0ee569ce-ea63-4c1d-a869-60329c07d754 CLINVAR:557425 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6de60c4b-d571-48a0-8cc6-504c8bd7152f CAID:CA16020844 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2226d719-59a7-4183-b61f-d4db652c6b51 CAID:CA16020844 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d8d64f95-a8de-4b0c-a4d1-c840cb9643be CAID:CA16020848 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8433e20f-2ba2-4de5-ba72-a8cbebee64c4 CAID:CA16020848 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f9240ce4-d027-4a2b-b1f1-706b2b669a31 CAID:CA16020914 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 257e3c7a-8470-4082-934c-f24332e2cd37 CAID:CA16020914 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6ad422e9-25e6-4c1c-bae7-b72308861d81 CAID:CA16020927 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 915ebb0f-10b0-4d3e-9b07-5dfd4c316e28 CAID:CA16020927 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 38fb2157-f730-4724-8c83-cd596fbee4df CAID:CA16020942 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 164a04b6-473d-4240-b572-7d6caffffa19 CAID:CA16020942 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5f798c5e-42aa-443c-b2e4-13e3444509f8 CAID:CA16020952 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ecfb038d-13bb-4b3b-8281-7e08c7f79030 CAID:CA16020952 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 318f07fe-78f7-44d7-887e-189ef23b565f CLINVAR:862570 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 858f63e6-b9b7-4c60-aef7-960e0302fbcc CLINVAR:862570 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ea62facc-52b9-4110-bdb9-2a7867afc180 CLINVAR:551592 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7ff2bff9-24d7-4fdb-bed7-4730dffd25aa CLINVAR:551592 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen babb115a-19a8-444f-b73b-f936a050661b CLINVAR:189059 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 958d1e06-4930-4c53-8ebc-03e5acd2fd5d CLINVAR:189059 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3c18bbc4-cf23-43c4-a5fb-366b64f7b70d CLINVAR:556716 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 64fc8fa7-21f9-4a2c-8e73-6107ffa31ebd CLINVAR:556716 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c00c5505-74bc-4df8-92c4-5b068facda65 CLINVAR:552747 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 52043313-b22f-46ea-82d3-8783d6566fc8 CLINVAR:552747 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9de9c6ff-9715-4fea-b082-48d8c347c9dd CLINVAR:554096 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 75f66022-4c51-4227-ad0d-54aa54d1398e CLINVAR:554096 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b89ae9e5-e463-40b3-b9cb-360fd60614f8 CLINVAR:550277 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a8908a6e-1567-4990-b5fb-7bf23d69e2d1 CLINVAR:550277 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1d2b3e94-4d68-49df-9992-201c9e891345 CLINVAR:370552 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2df57832-37b7-4d92-952d-a0a69039ea96 CLINVAR:370552 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b1a16467-51de-41f1-8251-3c6553370313 CLINVAR:370639 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f46b3258-4b2d-486b-b0d8-d39a5c1ad474 CLINVAR:370639 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 326b3ced-e7ce-4d2e-bdfa-e490f39d0c58 CLINVAR:370993 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ad32f59f-ec2c-4cf6-9bc1-b7a82eee9cac CLINVAR:370993 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a21cc5e8-58b1-44d6-a749-62e4ff8f4d19 CLINVAR:555341 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4de1ff9a-060b-4f79-b4f4-ea4332e0c1a6 CLINVAR:555341 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d8f9dcd3-708a-412d-b09d-0b2b24514322 CLINVAR:558571 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b836a9f3-4930-45cc-a543-be03ca7f86f5 CLINVAR:558571 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 84c73673-59b7-4ad6-a318-b908a980aaee CLINVAR:92480 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 03dfb6a2-3a2b-4391-a2ed-30a7e2c1e9f7 CLINVAR:92480 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 98abed83-8c8f-4d8d-956f-4b9bb090b89b CLINVAR:550478 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5fdaad82-e474-4566-b9f1-f0a420721b4c CLINVAR:550478 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 28ad6ee3-8ee3-45a3-8e0c-a03340cd4fcb CLINVAR:597005 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5f0d0b21-63c9-48cc-a809-4925bdf94651 CLINVAR:597005 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen df1ddd15-0753-4c03-8ec4-e463d7267ba1 CLINVAR:42835 biolink:associated_with_increased_likelihood_of MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4414b8ad-5973-4196-a23d-272f3e615e3f CLINVAR:42835 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8cfc6f9a-a88d-47e3-858d-2bfd36ba2582 CLINVAR:42840 biolink:associated_with_increased_likelihood_of MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 461f40ff-2e50-4582-89af-98adc6e180f7 CLINVAR:42840 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c90c1e13-fb76-41d7-a204-2606f0e80908 CLINVAR:42860 biolink:genetically_associated_with MONDO:0005021 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c4d2a113-7562-4c19-b0aa-9360eafcb1cb CLINVAR:42860 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ef0f7867-bf16-4a4d-a128-c2a8a06b6c8f CLINVAR:42876 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 259e4663-89d1-41eb-b750-5f4f1e789bb2 CLINVAR:42876 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aa08ce54-7485-4c40-b153-b0c08ff1b8aa CLINVAR:42948 biolink:associated_with_increased_likelihood_of MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2d5a4ab1-e1ef-4cb6-8d02-39ee0b32a7d5 CLINVAR:42948 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 381b2542-3204-4031-9e04-40fe08e9016f CLINVAR:42960 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1ac2081d-091d-46bf-95b6-e0a8a345e395 CLINVAR:42960 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7d3432f4-273d-4581-8fb8-2c7161ec46ae CLINVAR:43028 biolink:genetically_associated_with MONDO:0004994 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4c55d4f1-6527-473e-8f0a-d8a8fca1761f CLINVAR:43028 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0438be14-e3b9-4b5a-986e-ee4cadd7c9fe CLINVAR:43064 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7557b25e-a6cb-4786-b14f-7e713136c661 CLINVAR:43064 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 639c4bb2-bbbe-4ec0-ab45-8839ded2a97c CLINVAR:161323 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 978fa341-90c0-4899-bec6-d558f57124b2 CLINVAR:161323 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3929701f-970d-4be7-946d-bb58a57bd1e2 CLINVAR:164316 biolink:causes MONDO:0005021 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9c2e83c4-a4c2-469b-8d88-b61c075491b4 CLINVAR:164316 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 56e222ad-ee5a-4245-81e1-5302c5edaaec CLINVAR:42926 biolink:causes MONDO:0005021 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 693a8585-bfc8-46c9-a0d7-5b4fb7d1b7cd CLINVAR:42926 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d2cbcf2e-81a2-4312-97b2-9a6b46428f1d CLINVAR:164319 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e1cd6f6b-d188-4726-8430-03d3cec68708 CLINVAR:164319 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 606d79da-5184-471c-aac8-f84040145ed1 CLINVAR:181203 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 55543c89-c810-47a9-b164-812a8baa9d98 CLINVAR:181203 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0f3f1207-8d47-4568-8953-eefbe691c465 CLINVAR:164381 biolink:associated_with_increased_likelihood_of MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 57f1e031-7e3e-4c2d-8b00-65e37a4f5795 CLINVAR:164381 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4bc948b1-4374-4b67-8840-bcdad282b667 CLINVAR:177667 biolink:associated_with_increased_likelihood_of MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 01e33b94-160c-417f-b8cc-c8b05dddab74 CLINVAR:177667 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 38e2a5ec-1aa2-4fae-ab56-c06465b68eda CLINVAR:177734 biolink:associated_with_increased_likelihood_of MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 53e73adf-6f66-443a-88eb-f22e3bc1a6d7 CLINVAR:177734 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6f316c52-877a-440b-bfe5-774c5cc2a664 CLINVAR:177847 biolink:associated_with_increased_likelihood_of MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 78df87bc-382f-4f50-8de9-1fbc459119ae CLINVAR:177847 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 94e90409-6b72-477a-9d7c-dc55f96cbeb6 CLINVAR:179272 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7cec9476-27dd-41c3-aa07-0027f64f2735 CLINVAR:179272 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a510cd9b-aa74-4d88-bf63-2976d8f64fe6 CLINVAR:180439 biolink:genetically_associated_with MONDO:0004994 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ab22cd98-74c9-4b00-88e7-10ad34863a42 CLINVAR:180439 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d2805754-4cd1-4148-971a-839c379bbc7d CLINVAR:180441 biolink:genetically_associated_with MONDO:0004994 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ea092492-b997-42aa-84cb-b1c8a78e4562 CLINVAR:180441 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 938f8540-d0be-4516-a58b-7386818db9e7 CLINVAR:43097 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f5f3b64b-f684-41c9-beaa-5087476a7ce0 CLINVAR:43097 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4ac4afc9-b8c3-4d00-acca-e4bd1a937d14 CLINVAR:180434 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ed7338c6-aa23-4208-bb51-55035e0d3314 CLINVAR:180434 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2a86065d-935f-44cc-a0fd-137bb2094425 CAID:CA16020978 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen eb51d75b-803e-4ac3-a258-3b7ea46acabf CAID:CA16020978 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 30c96be3-3083-4f39-9d8c-395c62e9c536 CLINVAR:549912 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen afc7fc15-b510-4810-b62b-caf2c2b75fdd CLINVAR:549912 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 53eda814-197a-4a47-84af-9fc07f8589af CLINVAR:127811 biolink:genetically_associated_with MONDO:0007903 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 83c965df-7e90-42ad-9286-91e0c09be757 CLINVAR:127811 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 189a163e-1b60-4027-bd41-6ca133b873df CLINVAR:973858 biolink:associated_with_increased_likelihood_of MONDO:0007903 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b67bda36-5c5e-405a-a669-fbce53031fcf CLINVAR:973858 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 09cac763-94b2-4586-becb-7844d960acd5 CLINVAR:102681 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 411c209b-b31c-430b-a5e3-eacea0ad2296 CLINVAR:102681 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bbd20f05-000a-4bb4-891b-87733c9adca0 CLINVAR:9641 biolink:causes MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e84992e8-603d-4ca7-b8f6-f181f25dfcbc CLINVAR:9641 biolink:is_sequence_variant_of HGNC:7414 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 36a35ca1-3d42-4b6b-99ef-c2d93566ff4d CLINVAR:1065382 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ca1d5e89-6f3f-4111-87a1-d3a6705f20f7 CLINVAR:1065382 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dbe7e452-0808-4afe-bc42-a3d776603e51 CLINVAR:9642 biolink:causes MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 04efea8a-6965-4de7-ae0b-168e09f7d5c7 CLINVAR:9642 biolink:is_sequence_variant_of HGNC:7414 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6d2f98d1-3092-4e04-aa69-92fe0b6f658f CAID:CA916084430 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 43622a23-8f0c-4b23-be38-d34b42fe500d CAID:CA916084430 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4c57f1b2-adc9-4f79-8689-8a5312b9b6a9 CAID:CA916084429 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen de25f939-af3b-4b64-854f-3b768ec7c5b1 CAID:CA916084429 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2620838b-9d45-41c8-8870-48ec8c5b5e6b CLINVAR:890601 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 44cc7fce-0cc9-40f1-b386-1ace4aba8a6b CLINVAR:890601 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0d75a2fe-6b03-4f9e-b0dd-2aef0854b9d8 CLINVAR:265901 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f1a0d0f6-5d5b-4a4d-a8bc-e4cec94b649d CLINVAR:265901 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 67516dc0-e910-4a01-ac6e-fb05f320261f CLINVAR:650703 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 52888d09-6c69-4bd8-ad11-c835645d9ff8 CLINVAR:650703 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen df1a2d9a-ef80-48e5-a45a-8b0e1070fa1c CLINVAR:977125 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d690c589-ff83-4d5a-88c9-a3a6edbfd122 CLINVAR:977125 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6ad0e420-0fd1-4f3e-a8fd-6bfe409fc29b CLINVAR:953025 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ecdb9090-ffc1-4561-beec-4a8ea7e30ca0 CLINVAR:953025 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7f60e711-696f-4502-b119-e66d3d02b3bc CLINVAR:2323 biolink:causes MONDO:0011229 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a0974d11-9a34-45f8-bd2c-a6aeb43500b0 CLINVAR:2323 biolink:is_sequence_variant_of HGNC:23287 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fed7c9af-85d3-42b5-aa5e-eff8215babfe CLINVAR:39816 biolink:causes MONDO:0016054 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen cf98b4e2-dd12-4efe-80ea-4f49949e6bf0 CLINVAR:39816 biolink:is_sequence_variant_of HGNC:393 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fff2f747-0930-4968-b6c6-6d1e2474b2d5 CLINVAR:664963 biolink:genetically_associated_with MONDO:0100283 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5f07161a-b2ff-4505-8a85-40aa55e11a40 CLINVAR:664963 biolink:is_sequence_variant_of HGNC:3942 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0f90b274-3a59-4c62-ab4a-a6ce1a447cf8 CLINVAR:995382 biolink:associated_with_increased_likelihood_of MONDO:0100283 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6da73795-7575-466f-9ca8-7100c9bb4071 CLINVAR:995382 biolink:is_sequence_variant_of HGNC:8975 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c8abd110-88d6-44cd-b89d-46cca9f7a936 CLINVAR:39808 biolink:causes MONDO:0016054 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 49bd7b77-ba79-42e7-8568-97a42e8d097c CLINVAR:39808 biolink:is_sequence_variant_of HGNC:8980 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ddf46458-a9f8-4617-afa5-e68e75ee3587 CLINVAR:376130 biolink:causes MONDO:0016054 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1dfaf74e-34a3-40e8-b780-830e04863907 CLINVAR:376130 biolink:is_sequence_variant_of HGNC:3942 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9641ed93-6771-423b-88e7-8c6898748351 CLINVAR:858694 biolink:genetically_associated_with MONDO:0100283 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ca946e93-fd4c-41ad-aa26-7ecad89716de CLINVAR:858694 biolink:is_sequence_variant_of HGNC:3942 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9088981f-60ef-4fc3-a326-0c5b17145a4a CLINVAR:376453 biolink:causes MONDO:0016054 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 03a83db1-10a6-4c9e-83ab-895aef3d53be CLINVAR:376453 biolink:is_sequence_variant_of HGNC:3942 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ab58435e-8bd1-40ff-ab21-2095acceeac5 CLINVAR:1296990 biolink:genetically_associated_with MONDO:0100283 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen eb59607c-5984-4541-9f15-9ee0a8962d10 CLINVAR:1296990 biolink:is_sequence_variant_of HGNC:8975 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4ea2e104-5033-4d92-b342-ceb7fe53c35c CLINVAR:833713 biolink:genetically_associated_with MONDO:0100283 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6e3033c6-a9f2-4770-b293-ffbf6dc9f33f CLINVAR:833713 biolink:is_sequence_variant_of HGNC:3942 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ca9d42f5-a26d-465e-a097-3d7de343b68e CLINVAR:374796 biolink:causes MONDO:0016054 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 85928c3a-2c12-4793-8611-7d275d1ce085 CLINVAR:374796 biolink:is_sequence_variant_of HGNC:3942 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5c1829bc-0e7d-4aff-a38c-6220cea86d83 CLINVAR:1296992 biolink:genetically_associated_with MONDO:0100283 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ed3628bf-c032-4397-b873-79ed9a82515f CLINVAR:1296992 biolink:is_sequence_variant_of HGNC:8975 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8b65d8e0-936f-430a-8a1d-8cfecd1c4e88 CLINVAR:31944 biolink:causes MONDO:0016054 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen eb89385b-4aaa-414a-8eed-b1fa0335e813 CLINVAR:31944 biolink:is_sequence_variant_of HGNC:8975 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6642229d-85bc-42cd-8d42-83986bf9a8e3 CLINVAR:39703 biolink:causes MONDO:0016054 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e40e0ee8-6bd3-47c5-ade9-9c143410a435 CLINVAR:39703 biolink:is_sequence_variant_of HGNC:8975 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e5665814-77c7-4c3d-9386-653aa3613fc7 CLINVAR:1296991 biolink:genetically_associated_with MONDO:0100283 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1f05f606-aaa9-45a8-b7bb-f3d95965cc92 CLINVAR:1296991 biolink:is_sequence_variant_of HGNC:3942 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8527a81e-4f0a-455f-8ffe-649823a83d63 CLINVAR:376476 biolink:causes MONDO:0016054 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen af7d8a5b-63bf-4ddc-85a6-e7613be119b0 CLINVAR:376476 biolink:is_sequence_variant_of HGNC:8975 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2fe42a20-2356-4e8c-8628-06c096d26594 CLINVAR:156702 biolink:causes MONDO:0016054 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8ba4ef89-613d-4e5f-a2b9-dac5d71d86d8 CLINVAR:156702 biolink:is_sequence_variant_of HGNC:3942 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aa621ed7-2edd-4046-bac3-cdea3f44a8b0 CLINVAR:376129 biolink:causes MONDO:0016054 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 35a76549-f4a9-43e0-a418-f11caf9638b2 CLINVAR:376129 biolink:is_sequence_variant_of HGNC:3942 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1535668e-5a52-4793-a1aa-324bfd759a14 CLINVAR:1296997 biolink:associated_with_increased_likelihood_of MONDO:0100283 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f8e6e545-e9ae-48d6-93b4-afb254cd16dd CLINVAR:1296997 biolink:is_sequence_variant_of HGNC:3942 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c87b0370-57ac-4bd7-b5e0-be6a0f4f6834 CLINVAR:1296994 biolink:genetically_associated_with MONDO:0016054 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen bfbdaa90-1bf7-4b15-a8da-f96b644fd19b CLINVAR:1296994 biolink:is_sequence_variant_of HGNC:3942 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 965c0902-c70c-4b97-a495-ef0509183e2e CLINVAR:1296989 biolink:causes MONDO:0016054 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c3cfeaa1-6d13-4817-a174-830589c085f9 CLINVAR:1296989 biolink:is_sequence_variant_of HGNC:3942 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 318f0f43-b1e3-45a6-984f-747785cdd10d CLINVAR:659938 biolink:genetically_associated_with MONDO:0100283 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b4d7fba4-a20e-41aa-ac18-60f102c7d6c0 CLINVAR:659938 biolink:is_sequence_variant_of HGNC:3942 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c3631a0f-9b16-4e53-b60c-9ac9c9ff13be CLINVAR:1296993 biolink:associated_with_increased_likelihood_of MONDO:0100283 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen cd746035-9b8b-48bc-857a-884d7f797c38 CLINVAR:1296993 biolink:is_sequence_variant_of HGNC:3942 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fb380dcd-2011-47dc-bc52-147b2bc3a55a CLINVAR:1296995 biolink:genetically_associated_with MONDO:0100283 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 36c5fe12-2427-48eb-af2b-c1fd4030e306 CLINVAR:1296995 biolink:is_sequence_variant_of HGNC:3942 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 38e15ce4-e220-4467-bdaa-5f44d5b2dbbc CLINVAR:156703 biolink:causes MONDO:0016054 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2beab01b-b7c9-44c0-88c1-7fb475b80870 CLINVAR:156703 biolink:is_sequence_variant_of HGNC:3942 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1d194da3-0b41-4107-ba27-968bae747fd3 CLINVAR:1296996 biolink:genetically_associated_with MONDO:0100283 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7c671544-7441-4c9e-b6c1-b75fec9f2b1b CLINVAR:1296996 biolink:is_sequence_variant_of HGNC:3942 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 57393444-c7c0-4b3c-83a5-4906cb98f2af CLINVAR:417723 biolink:causes MONDO:0016054 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen abd17331-55d9-4036-b08b-c4ca117d7fd3 CLINVAR:417723 biolink:is_sequence_variant_of HGNC:3942 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7dfdbab5-3405-47bd-8b3f-bfec65d838f4 CLINVAR:13652 biolink:causes MONDO:0016054 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen cc747be8-134c-4fd3-bc64-d2d6178880ec CLINVAR:13652 biolink:is_sequence_variant_of HGNC:8975 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cad6c8a5-aeb8-42d7-9b71-ff3d0d58a9df CLINVAR:693058 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ea41ec82-dfa2-4068-afa5-537f6207ce66 CLINVAR:693058 biolink:is_sequence_variant_of HGNC:7414 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b297810b-bd17-4c35-8e20-970a49038782 CLINVAR:1172526 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1340ce15-2756-478b-85ae-2d372d510217 CLINVAR:1172526 biolink:is_sequence_variant_of HGNC:7414 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1ff0f523-070d-4bfa-bd81-90b5d876ebb3 CLINVAR:658833 biolink:genetically_associated_with MONDO:0011229 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2dc066e0-f248-478a-92ac-0f31797c93ac CLINVAR:658833 biolink:is_sequence_variant_of HGNC:23287 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7302696d-bd68-4faa-89aa-9290be83cdf2 CLINVAR:329444 biolink:genetically_associated_with MONDO:0011229 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f6f2f6b5-6bcd-4ae7-8c56-02564be7943d CLINVAR:329444 biolink:is_sequence_variant_of HGNC:23287 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 86e12187-5301-4108-95a7-2a48992b52fb CLINVAR:329442 biolink:genetically_associated_with MONDO:0011229 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d89bd2dd-b568-4110-a08d-2f295b244441 CLINVAR:329442 biolink:is_sequence_variant_of HGNC:23287 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3404d247-5b8c-412e-8d28-2bea85c8c463 CLINVAR:214936 biolink:causes MONDO:0019169 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b4994000-6021-42f6-aa31-e61b62f7c95c CLINVAR:214936 biolink:is_sequence_variant_of HGNC:8806 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e302b524-1ec4-4e89-b098-e1c0d781acb6 CLINVAR:214938 biolink:associated_with_increased_likelihood_of MONDO:0019169 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 47c2a0eb-7f73-4de6-ad8e-b596f249d8ae CLINVAR:214938 biolink:is_sequence_variant_of HGNC:8806 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 43a95d42-80da-4941-8fa9-426c9ada81ce CLINVAR:972803 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c674b25a-c6ed-4c76-b543-16f6962b3728 CLINVAR:972803 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 161781a6-f7a0-40f9-a234-385e883f5b0d CLINVAR:1327503 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen bf453d1c-c73a-42cb-a7c9-48a0e09fe9c3 CLINVAR:1327503 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d224281a-b5d8-44b0-908b-73c6af545703 CLINVAR:1327504 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 89fa6be5-bd2d-4436-a718-5c7eccabce29 CLINVAR:1327504 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8cf5ab74-5252-47c4-939d-44e48728ab38 CLINVAR:371481 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3a819c49-f2bd-447e-8fce-9150d01c3e0c CLINVAR:371481 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c55d7d05-c808-4f0d-b8a6-4e3a32e9298f CLINVAR:551558 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c4435b37-f070-4682-85de-17af22b4bc8e CLINVAR:551558 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b1b4a043-124c-4392-9956-04b72e4c0dd9 CLINVAR:9714 biolink:causes MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3b423d5c-646a-4ad0-9d7b-60950351dd41 CLINVAR:9714 biolink:is_sequence_variant_of HGNC:7458 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8b62537f-5ddf-4182-93ea-82909ddc6b60 CLINVAR:555153 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2d92650a-5b73-4368-a125-620683d65dfb CLINVAR:555153 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1677d47e-ef50-42ae-8d57-89e5b0a8cc48 CLINVAR:558700 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e828e20b-28ed-4a36-af85-5899895814c4 CLINVAR:558700 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6832a8ff-ecbc-4e87-bdc7-b67caea48d79 CLINVAR:956209 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6365d694-8e9b-4e49-af45-472ecb846c00 CLINVAR:956209 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 250ec248-eefc-44ab-9521-29ba1fb7d483 CLINVAR:9702 biolink:causes MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 87215ca9-5fe9-4d9d-90bb-0c6856797417 CLINVAR:9702 biolink:is_sequence_variant_of HGNC:7461 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 66b4be57-25d4-4251-85e3-af2b9e138605 CLINVAR:689930 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 34f74e28-0ffd-418a-ace8-5accc0c36199 CLINVAR:689930 biolink:is_sequence_variant_of HGNC:7501 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4538f201-a150-4d75-be3a-dd0bca0cf702 CLINVAR:265160 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 437ef1c7-962f-4d28-a264-04acba9a3e41 CLINVAR:265160 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 959f8b61-befa-41cb-af95-83efb3c108b9 CLINVAR:1327591 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen cf32505b-d64c-4399-891c-d604b93164e3 CLINVAR:1327591 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bc4fe16e-5fa8-4aa4-b7df-913918345b31 CLINVAR:1327600 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d130ad84-93e7-44b5-864d-b8b4732e1d72 CLINVAR:1327600 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7a90ebd5-3da1-4c68-999b-b21f149825c3 CAID:CA386959939 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f05d50d4-a40a-423a-a5e8-c85c111a286f CAID:CA386959939 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d299fd8a-13ac-454a-b417-1be050d759c4 CLINVAR:1327616 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen dcd87c35-83c0-4ff3-9282-061de9f93726 CLINVAR:1327616 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9df775f3-9ee6-4a84-8f04-9a45af9ccc36 CAID:CA386959900 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen cf34b3ce-4714-48fa-8d11-89280a4a3016 CAID:CA386959900 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fea4dbb6-9064-4c31-938a-7d98398d08fe CLINVAR:586798 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3b4ebaa7-464e-4a95-aa3a-d6c9ad8b5f87 CLINVAR:586798 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 625fc7c5-44e7-4b07-b80c-2244d28ce508 CAID:CA386967824 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 09c118d2-e470-4666-8e3f-08b2fe061857 CAID:CA386967824 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f83f7547-3b2a-4bf6-af38-f6e51c1458f3 CLINVAR:617646 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5fa7d386-c36d-4ab6-9b1c-9aab236fe221 CLINVAR:617646 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 476777ad-9476-47f4-96ba-6182c661c468 CLINVAR:1327622 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b75d2fe5-e75a-4c59-86c0-4b4ea4d42473 CLINVAR:1327622 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3a8767b9-d1a2-4e3b-b076-7a9ba65c530a CLINVAR:1327592 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d9c26f0f-f87b-4855-bba3-ed046cd8a738 CLINVAR:1327592 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4ecc97ce-9e84-4ba9-8d10-e95d6979635c CLINVAR:1327593 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1a6d8a45-574b-4806-a3d8-a9f6ed734b66 CLINVAR:1327593 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 62b60df2-b28b-4844-a349-80616b218f6e CLINVAR:14930 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 21641ae8-bf42-4213-8dca-ba3ce480c228 CLINVAR:14930 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 13d4e3f6-5a52-4ade-915e-1af9a24ee13a CLINVAR:1327594 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4a40ca13-6127-4441-892d-ffa3f4645179 CLINVAR:1327594 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4dc31609-d2b4-4246-ac87-9b9ace1a9d2d CLINVAR:1327595 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 03404e48-b161-4cf2-9ee5-213ca7ad1ac8 CLINVAR:1327595 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9e51abdb-b722-426e-9719-9b8bdbf8b440 CAID:CA386965858 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 54b909a7-55ed-4a18-ba30-34596720fe36 CAID:CA386965858 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3f8c7658-ffc1-4c62-a770-1d32f01616c2 CLINVAR:1327597 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 205bde27-51f6-4d52-9717-19cf4fef6322 CLINVAR:1327597 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 36f20919-bc4d-4307-bec8-1bd686a6b494 CLINVAR:1327598 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 37907566-f344-44d6-aa05-052212578398 CLINVAR:1327598 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 18e88cef-f221-4146-8edd-1d87591a2db7 CLINVAR:1327599 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2e377fdc-aa65-4d7e-98da-07a2de6ee0e3 CLINVAR:1327599 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a4c7d177-fdf7-4bea-ac9c-8b22faf5a8e8 CLINVAR:1033090 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d0683d41-4c18-4d8d-88b9-7a4cc083c865 CLINVAR:1033090 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4dbbb9a1-7ba5-4e24-a804-569f6ec60f30 CAID:CA244520175 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6b296413-0822-4084-bbbc-9b50c512c921 CAID:CA244520175 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7c8951c6-84fc-46e0-98a6-b48f9230d259 CLINVAR:1327602 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a26d1993-455a-4e8b-bd9e-dcab096115a0 CLINVAR:1327602 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b25ca6b7-d1c7-4e03-a860-ff2ad7b4f5d5 CLINVAR:447488 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f6f4e278-0da8-45c4-b0bf-e703f8c299f2 CLINVAR:447488 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f7e8f06f-c0c8-4561-a861-8c600e26d702 CLINVAR:14943 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4605cf0a-1ad3-46f9-8fab-53a69e686a5a CLINVAR:14943 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0fa145e9-9478-4766-a973-93a3977e0860 CLINVAR:14933 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen afa22ae4-195c-48c0-aec1-c22cc9099b00 CLINVAR:14933 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 46cab5bf-d682-4dbf-a833-20584d93aa56 CLINVAR:562373 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 58f47969-eaf3-44aa-9fba-411434ab5a8c CLINVAR:562373 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 911362fb-d908-441a-9fea-e0b81a64e8db CLINVAR:1327603 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 05bd93ef-afc2-45d8-ae2e-c9f792eb3808 CLINVAR:1327603 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9982b029-d616-4bee-83c6-6b0a756d3324 CLINVAR:994547 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 390edaf0-ddd7-4465-9c16-e6f7763a7d59 CLINVAR:994547 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ac531a10-ae69-4bd1-a9f6-24a08c872aa7 CLINVAR:484614 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f64d08df-f1a0-46eb-8e12-d9c69e22c727 CLINVAR:484614 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a884865d-616a-46e3-a7bd-0c4febfd53ad CLINVAR:9689 biolink:causes MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen cc452a40-674a-4bcd-b9cd-cda4192bc0ef CLINVAR:9689 biolink:is_sequence_variant_of HGNC:7462 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 43769e06-3203-4e10-a14f-1a569ca06960 CLINVAR:9579 biolink:causes MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f5823a55-8863-42ae-b34f-0e47c51cff50 CLINVAR:9579 biolink:is_sequence_variant_of HGNC:7489 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 31fcc229-0f6e-4591-ac37-641ec801d509 CLINVAR:590492 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 137fd7ff-4858-4bbb-a1a7-6ad39a49a5a4 CLINVAR:590492 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 62fe03b1-44e2-4cac-9889-412c98449c89 CLINVAR:133093 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c3ebfee6-7904-4c47-a6c4-ec1094c62246 CLINVAR:133093 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0ca80314-0eee-4f59-8c5f-d92bedffac39 CAID:CA16020828 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5d7e24c4-cf79-4d10-9b62-47171408ec5e CAID:CA16020828 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 042da13f-e4de-4d1c-9aa0-edfc06b62bf7 CLINVAR:1327604 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 19f95aec-cc46-417b-ab98-6fa6f34695c0 CLINVAR:1327604 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 21c3c604-c9c0-40a8-b871-5e8d5ccc92ee CLINVAR:1327605 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 563f93b3-5dfe-4aad-8f30-a593a09cb935 CLINVAR:1327605 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ea0f93cb-381d-4eb5-aac3-8178d658b63b CAID:CA2023554331 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f93ecd8c-b1bd-4fea-9b4c-4b2940723bd8 CAID:CA2023554331 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6bab89d1-3b39-4fb4-a8a1-580eddbf71c6 CLINVAR:1327608 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 959339a2-e2c7-475a-a4ac-3a96a1267400 CLINVAR:1327608 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 630ba97d-72ec-4078-911d-0f2ccdf72bc3 CLINVAR:1327609 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 502e1950-fccc-4553-a786-13fad7784eaa CLINVAR:1327609 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 580c1f86-e0aa-45a4-8bea-f30b787282bb CLINVAR:1327610 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3e293ba3-ca29-4cdb-bc98-b1c40e8f5cfe CLINVAR:1327610 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ff25c0a5-66a1-4dbf-ad4e-918b28d1941c CLINVAR:703089 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0d27b991-d377-4519-b19a-12185941db9b CLINVAR:703089 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5d1c51df-085e-4206-ab02-098aeb8de249 CLINVAR:102539 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f8c9500d-5002-46d8-a783-c4924de57d59 CLINVAR:102539 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1833de82-366e-4b1e-9fae-477be8269bb3 CAID:CA16020982 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9780ba52-2e2c-48ba-b603-3d5c471953fb CAID:CA16020982 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5d117111-b9d4-4130-858d-47d8e8d234c8 CAID:CA16020983 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b8e7af5a-cace-4818-9254-cb45fc880d1e CAID:CA16020983 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 07062f7a-3898-48c7-8784-3d6d5e2c65da CAID:CA16020990 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen bbb28d04-8067-4ab1-b69a-d32310d60833 CAID:CA16020990 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b1d33c26-2c28-4c9a-8fd8-1941cdf5019f CLINVAR:962987 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f671429f-134a-4cc6-ba69-021ce984e0cf CLINVAR:962987 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d81a53f1-dd50-483d-a0ce-0dcfc86c910d CAID:CA6748773 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 74052e34-ce80-41c4-b622-7d39474cf71a CAID:CA6748773 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e40f4e19-f4c8-463c-841a-18b72cff9faa CLINVAR:102528 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a74c37e2-da23-4019-9b1d-9b9398c2fca9 CLINVAR:102528 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dc766231-374b-4834-83ba-0a315f3fbc12 CLINVAR:102545 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1e83c7e6-4141-474c-8fb1-8ea9bc4f907e CLINVAR:102545 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e04904f5-97e3-4f01-9e92-48c99a9f805f CLINVAR:102546 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6f70185c-bacf-4c9a-a7a6-87d776189cda CLINVAR:102546 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4f45e6ad-1d7f-4a11-a544-41ac45093a3e CLINVAR:281052 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3f918886-7382-4881-996e-211fa98aae20 CLINVAR:281052 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1c5ee22a-b85a-471e-a612-67b55c2cfec4 CLINVAR:283219 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e42709e2-46f3-4326-9fa8-62b189c7d4e9 CLINVAR:283219 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1d90a67e-c4ec-40d9-8d0f-b2ae026e66a5 CLINVAR:640911 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1a8aae5a-0245-4e06-9efc-f2762485f861 CLINVAR:640911 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f618fa91-476c-4683-8fc8-d397850c41f2 CAID:CA401363854 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 319fc66c-5fac-4f82-8505-8d219a22a6e5 CAID:CA401363854 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b364a994-c1eb-4ec3-ade2-a8d4b0c7a5e3 CLINVAR:370637 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6ce28dd6-f5d1-4120-b434-67a37eeea3aa CLINVAR:370637 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8e58939e-e16a-4298-afb2-10c1401ef523 CLINVAR:181210 biolink:genetically_associated_with MONDO:0005021 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c0869c6c-7f07-4816-94fb-994a5c64a2f1 CLINVAR:181210 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ba61ae2d-89da-4425-983a-da13991ab8a3 CLINVAR:181236 biolink:genetically_associated_with MONDO:0004994 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0ea86c02-8325-436e-ba82-0edef5de9583 CLINVAR:181236 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ed7240ed-306d-46fd-b689-8af3a562e1bf CLINVAR:181278 biolink:genetically_associated_with MONDO:0005021 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 80b4bb6a-ca48-4e15-8531-7fb1fc121aa0 CLINVAR:181278 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ae344272-1625-430c-ac29-8c0840f386b0 CLINVAR:181286 biolink:genetically_associated_with MONDO:0004994 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8a0eacbd-2f7f-4386-96c7-6a47703db2ea CLINVAR:181286 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 584cef4f-6a3e-4da5-beef-ac41eece1546 CLINVAR:181293 biolink:genetically_associated_with MONDO:0004994 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4d10cd14-478e-4202-9f1b-aff7ad337ca3 CLINVAR:181293 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 97113e48-9005-4197-98d3-a9cdd602d1c0 CLINVAR:181299 biolink:genetically_associated_with MONDO:0005021 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1cca0401-5b49-46bb-b671-912f69a2bcd9 CLINVAR:181299 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0e249c06-c2cd-4a54-9f37-81cc4f84a96f CLINVAR:181300 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c5b6c642-8bd4-4c5b-8ae5-26e0fa08394f CLINVAR:181300 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 32a2d804-873f-4202-8838-cdb49de1a4bb CLINVAR:181310 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1831d738-7ec1-4ae4-91fb-ca3b63d1fdb3 CLINVAR:181310 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 515fc602-ddde-4832-8e4e-3c7457a6a1fe CLINVAR:181312 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7cbc8aa6-31e4-4308-993f-97aa8cbddfec CLINVAR:181312 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6dcced3d-6fed-48c6-806c-eb03ef3d8de8 CLINVAR:181315 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6f9f860f-30d7-4a63-a694-36abe727bf89 CLINVAR:181315 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4f8f055d-8903-4f3c-b1fe-8526db4223e4 CLINVAR:181330 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 97c51b21-8ddc-4ea6-a9a5-cabd635ddb02 CLINVAR:181330 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c6f67057-7933-4346-a53f-bcd943444fc8 CLINVAR:36831 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 83bf2a7e-30d1-4e54-81f5-4da65e5381a2 CLINVAR:36831 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 34ef7868-6933-4886-ac77-8455718912f1 CLINVAR:1327611 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f5c6d752-2f5d-4a5e-95eb-c20c80ca8bac CLINVAR:1327611 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 75010e35-8db5-4254-9967-e24a6d109a22 CLINVAR:1327612 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 77000a80-a8a0-4109-8cfe-42972bbff3b8 CLINVAR:1327612 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5b25001e-e6cc-4871-ae79-61ecb7bf3902 CLINVAR:1327613 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c9778fb2-d7f4-42ac-a4c0-d96e8fbb0fa7 CLINVAR:1327613 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 29bb6790-e311-46e4-b536-4503a2af7a77 CLINVAR:1327614 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c5396046-cee7-42d4-b300-5caa3eae42c9 CLINVAR:1327614 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen edb9c601-f0f8-4a77-a781-625e9b43bd3d CLINVAR:1327615 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 73bb9783-0a8c-4ecd-8b09-670d22230ee4 CLINVAR:1327615 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 213515e8-5900-4304-9973-d420c07b5ed2 CLINVAR:1327617 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0c303b77-b1cc-4e55-826a-5915d8c3f514 CLINVAR:1327617 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 497b6d5b-8e9c-4b4d-8d35-eeb5d124f54b CLINVAR:1327618 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3fddf1fa-b479-4fc9-a049-8db7c41788d5 CLINVAR:1327618 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f75075a7-25cc-4923-8349-d87e83d84e1c CLINVAR:1327619 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7b4c55d0-8482-4952-a28f-eee6cf8ffe58 CLINVAR:1327619 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen df81988a-2720-409b-9a9e-25927fce3424 CLINVAR:689846 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0becfe4b-797b-4f6c-b597-2c70cde881e0 CLINVAR:689846 biolink:is_sequence_variant_of HGNC:7500 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 61fdcd63-088c-47f8-bb33-65f48be88cd6 CLINVAR:693460 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen de359ef8-8dfc-49bc-bda5-13384babb27d CLINVAR:693460 biolink:is_sequence_variant_of HGNC:7461 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 093abb2a-5a5d-41d4-93e6-587bfa96e1f4 CLINVAR:692343 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e847c35e-eca9-4ebb-8889-fe094f8820f1 CLINVAR:692343 biolink:is_sequence_variant_of HGNC:7455 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen da9c1f9d-e406-4104-8858-1fd426ae0072 CLINVAR:1328511 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3a485a69-aa07-483e-a472-2c0af26706cf CLINVAR:1328511 biolink:is_sequence_variant_of HGNC:7419 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6f048e22-7846-4e38-a4ec-3a3049752362 CLINVAR:1328512 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen cf14ac9a-96fd-4226-8f28-5537ba647326 CLINVAR:1328512 biolink:is_sequence_variant_of HGNC:7456 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0f07836f-67e3-485f-8a68-0a703237e2a1 CLINVAR:693828 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a51d01a3-271a-4427-bc6d-6fcf24a5cfb2 CLINVAR:693828 biolink:is_sequence_variant_of HGNC:7427 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 67a76ad0-5b54-45d9-8c08-295c8ae6d95b CLINVAR:689941 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 941c5655-733b-410b-9ad1-79ba4360d1fb CLINVAR:689941 biolink:is_sequence_variant_of HGNC:7501 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c6738d69-3c2a-4657-881c-eccdc8f2619b CLINVAR:102493 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6d4bb532-4405-4dcd-b074-21bed8355b26 CLINVAR:102493 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1ad63aca-5353-45f6-b6a5-4bd74c2e34d5 CLINVAR:102487 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7ace6799-e2ae-4b02-8f4e-5f885d6b2095 CLINVAR:102487 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6db2d0ab-f0e2-4fc3-a72c-28f6828c4fad CLINVAR:690123 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7f9720ea-4aa7-47a3-9125-561a99cf11e3 CLINVAR:690123 biolink:is_sequence_variant_of HGNC:7496 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 44f66bee-75ba-4ddb-bf10-0f050c2a7e6e CLINVAR:102585 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b9cd751c-93c5-484a-a8a1-8dd2ffd8f621 CLINVAR:102585 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 185ca0d3-d368-417f-b790-8455b838bbb2 CLINVAR:102611 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 47407fdf-b994-4b65-a91f-f77eebe21556 CLINVAR:102611 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 894f216c-a23b-41dc-a8ab-fde5298ab628 CLINVAR:102776 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 678fa964-405e-46b0-870a-1f8a79989512 CLINVAR:102776 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1c2d9000-6cf6-4a59-92be-9c3bd53d509b CLINVAR:102785 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b9c192d3-8307-41ac-bd9e-d97231b04754 CLINVAR:102785 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 97e0a2a7-ceb8-4835-bb65-31e63c52bf5a CAID:CA16020954 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen de1cf2fe-5408-4453-939f-6f3963ee096b CAID:CA16020954 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3cc986ac-5353-4b46-997c-764ae9ec0cb1 CLINVAR:370982 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5eef1126-acb9-4b7e-bf89-564976c587bb CLINVAR:370982 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0b5ecc6e-29f5-43c9-9211-64ef3113bcf8 CLINVAR:102748 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d1effc1f-dc42-4fe6-9aac-44f88f520c00 CLINVAR:102748 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 55d9c8f9-45be-4873-a466-471fe5f5f370 CLINVAR:102807 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 813d6a0e-6347-41f6-be56-6c4762373eaa CLINVAR:102807 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b6d77094-57b5-419b-be25-2cc278dc578f CLINVAR:133186 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2ad323e4-9498-4434-94f3-77b3de7c3941 CLINVAR:133186 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d8a18441-33bd-4d03-9d52-f631184c011b CLINVAR:133187 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2e25f17b-a079-472b-abbb-97cc6357b03b CLINVAR:133187 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 36b93ce4-8d5b-4ccf-843c-84a500bc996b CLINVAR:1330355 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d7ff37d3-8795-4378-85a0-5d0dfd1d6421 CLINVAR:1330355 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b28cb335-e954-4e1c-afcf-d31fd6f7bccd CLINVAR:582065 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9e05335b-3602-475f-b304-a01a9611bec0 CLINVAR:582065 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0e51b659-ab3d-4e6c-88d0-54d9769e8eef CLINVAR:161379 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e01798ac-918b-415c-b92b-c5e6e9b94479 CLINVAR:161379 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 206e9749-b3e4-4a10-8692-11848f2814fb CLINVAR:133194 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f0e42ea3-ed62-4bec-aed6-a17926c18a73 CLINVAR:133194 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9fbe58fe-15d7-47b0-8dbf-a7704e299b34 CLINVAR:133195 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 419d3af3-9198-45b9-b390-373e802119dc CLINVAR:133195 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 46844154-2847-4ba8-9a16-a321f0d9d6a8 CLINVAR:133196 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9b5db5c2-edc9-445c-a678-3ddbf1e992b3 CLINVAR:133196 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen de94c305-f352-42bc-86fa-b7c91718f83e CLINVAR:133197 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 50a3cb43-2bc3-4b52-8eff-f9bdb49c93ce CLINVAR:133197 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4e205b5b-3358-4fa8-a214-90b8825e86d2 CLINVAR:133198 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6a0e43f9-241c-4dad-ba35-6ffed88f7f4a CLINVAR:133198 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 28a37353-3362-41c1-b965-9b6ee85e46b0 CLINVAR:133201 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c9226c89-336f-48b8-8f66-27a4fc8aec27 CLINVAR:133201 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 424ce8ff-dfb5-44cc-b306-789352310dee CLINVAR:133208 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5dd14393-c67f-4ff0-8dc9-4f9bf6879b81 CLINVAR:133208 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7a1079e2-c170-411a-88fe-974458aa5023 CLINVAR:1056224 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4752143f-23bd-4232-ae6c-a2118f865b09 CLINVAR:1056224 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c0bf360b-5182-487e-9917-817aa8c13f4e CLINVAR:133211 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 33f452dc-202e-4b7d-8c15-9d6a582c1ee6 CLINVAR:133211 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9ba9309c-ce2b-4c8c-8f4f-aab864f12e5c CLINVAR:93291 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f31ba19b-56cd-43e2-ac70-efedd9c9a685 CLINVAR:93291 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1b92ba0e-b2f9-4d24-a2ce-687c7267d858 CLINVAR:654130 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5425d23b-94a5-41a7-8242-55bc3777caba CLINVAR:654130 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c84d1636-dac3-43b8-8b70-77172fe7fb1a CLINVAR:1330356 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9a409164-c097-4041-abd3-6c5b866bb436 CLINVAR:1330356 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fea572c0-9016-4e5d-a0d5-19bf31f94952 CLINVAR:133212 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9f6dc821-f144-40b8-a393-e343f92e9085 CLINVAR:133212 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1d0d0f0b-8392-4812-8864-e8c6194d191f CLINVAR:1330358 biolink:associated_with_increased_likelihood_of MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 913c1af9-5c78-4ad8-9139-8646fe0d419f CLINVAR:1330358 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1e91427a-99de-40d7-91a2-dd37eaa675fb CLINVAR:872586 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 527c92e7-ca81-4410-bd4e-d6360046130c CLINVAR:872586 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2e5349e8-391d-4bf9-9afd-0b5d0f459ce1 CLINVAR:1330359 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f386205c-814a-4501-b589-cfbce2364cf2 CLINVAR:1330359 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a9d810d5-ec34-46ce-90d1-59b2d416239b CLINVAR:133217 biolink:associated_with_increased_likelihood_of MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1cd7cbc2-e115-4ce4-8f13-3edbb8b733f9 CLINVAR:133217 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7a3b6d1b-b6ff-4b27-9295-23503e81cbd3 CLINVAR:1308515 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4f4fe99e-1a15-45b9-95ba-3f35b77ff882 CLINVAR:1308515 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fa76cb9e-e4d4-45bd-ba40-2a87294c487d CLINVAR:133218 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a2dd1db8-d47a-47ae-9380-e298a6e21008 CLINVAR:133218 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1b3e10c7-4c92-4686-8871-7192d682c65f CLINVAR:133219 biolink:associated_with_increased_likelihood_of MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 172ad51f-4600-4599-abc2-8bb97e3e3149 CLINVAR:133219 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 18b04d5e-ecf2-4dcc-849b-36d978cb2bc9 CLINVAR:133220 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5af8ca55-7932-4695-96b5-2e646e000ce6 CLINVAR:133220 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1b806904-1c87-48f8-a76a-505db5ceaa9b CLINVAR:133221 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen cc6b5da8-09ea-4c8c-9184-f37e6e592a70 CLINVAR:133221 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b3d4d1e8-3bf4-4a28-a7b2-bc73cf4977fa CLINVAR:133061 biolink:causes MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 164c289a-c31a-4cf9-a452-179aff2ab729 CLINVAR:133061 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dff2a9b1-2150-4017-891a-283a04b6162f CLINVAR:133160 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3222ffe9-02a6-4064-aea4-0bcdbfb055a8 CLINVAR:133160 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ab7a1583-7685-4e9c-a47c-982c0769166a CLINVAR:133226 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d103aca8-cff8-4673-93b1-8d48b4c2c6b9 CLINVAR:133226 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9e8c9e68-a44d-483c-a4c9-07f65b9d4470 CLINVAR:1330360 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0d392e8c-810e-4e2b-8865-850863c5da65 CLINVAR:1330360 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 49573142-03c2-4388-901c-1c280fa72486 CLINVAR:133230 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen afe7ac04-ec48-4139-b121-5ade44f653e4 CLINVAR:133230 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b4d82d16-a5f4-42eb-9d65-2e07e8ee3571 CLINVAR:133232 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 05a26c80-c4e0-4530-b4fa-326b04e4ddd7 CLINVAR:133232 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1f38db69-feef-4c28-a341-1189477eef76 CLINVAR:1330361 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7f4ba16e-f39a-4fc6-999a-514df67becf0 CLINVAR:1330361 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9830cf01-2559-4ada-b818-5f616d5f6cbf CLINVAR:1330362 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2d886213-f43c-4682-b743-03e15771a726 CLINVAR:1330362 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d0a95e95-3a7d-4202-b615-4a25b850544e CLINVAR:1330363 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d1d263e8-399b-40fe-b687-3c3de60d46b5 CLINVAR:1330363 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen db0808b1-de2a-44c2-9895-d23b14877af2 CLINVAR:544516 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 61cd8c1f-254c-42da-87f8-6d27be387f12 CLINVAR:544516 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 882634d0-1d6c-47c4-ada4-08c4dcf30b19 CLINVAR:1330364 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 052c0c7a-ccda-4641-8ca6-cfdbb8d5f649 CLINVAR:1330364 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b531b4c1-39cf-4cc9-9489-ad6e477a228b CLINVAR:133241 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c288eacd-81d7-4f3e-ba1b-2a189cc41b10 CLINVAR:133241 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 30ac3f23-a9be-4b52-98f5-f6c56867350f CLINVAR:329090 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f49711d6-05b4-437f-b1c2-1522620f33f5 CLINVAR:329090 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 571f66d4-d8d7-4fbb-9607-8c6af85cfdc8 CLINVAR:1330365 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a620240b-ae03-45ed-8d3e-d5385091fb73 CLINVAR:1330365 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b8616391-67bd-4ac1-918d-2e12cce31486 CLINVAR:1010267 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f8a0e8dd-d448-450e-a63d-a06bd664830b CLINVAR:1010267 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7b80707f-f7e2-4148-b94a-5c3c7b1deae6 CLINVAR:1330366 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 73e4aaab-cacb-42e2-9ad5-39e4f03f9102 CLINVAR:1330366 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 25d37ab6-e14f-49ef-9452-af8780aafa84 CLINVAR:1330367 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 88d701b8-ef23-4dc5-9b66-a3ecd5a922d1 CLINVAR:1330367 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 121ee901-5824-418a-ad0d-2898707e095d CLINVAR:1303276 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c3830d7b-7d19-4624-bb7a-740eec499f80 CLINVAR:1303276 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6cfbb2c3-3d86-44ef-a734-6cf2b5a48eaf CLINVAR:1330368 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b7d50566-81cd-4abb-ae95-2eaefdb74362 CLINVAR:1330368 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0c527691-31a4-43aa-ab5d-0107d2a49983 CLINVAR:1330369 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 220edb54-5927-434c-897b-94e369fafdee CLINVAR:1330369 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bf46db29-43d1-47fd-bbda-bc1038c75582 CLINVAR:133070 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e06415c8-9ef0-47b1-9364-1fce2ce2a96f CLINVAR:133070 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ca84c943-1140-4d5b-930b-e8fa08294a77 CLINVAR:590630 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5c790a42-0d33-4af0-a31b-28c92f9dabab CLINVAR:590630 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d722cbb6-ba2f-4d53-bd02-dc197918a540 CLINVAR:429750 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f91ccc16-44b6-4574-bb98-4c81856aeb89 CLINVAR:429750 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 30b1be01-d7f0-4cfb-b024-aa49268e668a CAID:CA400029525 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9ccdf46e-b143-44ee-965a-2b82c32f02ff CAID:CA400029525 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 11744e8b-7d76-413f-8be1-c257d7a2ae7d CAID:CA399790170 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b95e5a53-47df-4702-bedf-e7b96ace3d5c CAID:CA399790170 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eb21c93b-4ec7-46e7-a301-f65460a59141 CAID:CA915940727 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3ec96fcd-1683-4f45-b7e0-d7a6c5ad548c CAID:CA915940727 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3aa393d3-8cb1-4124-a28d-d89ee24eec4a CAID:CA400029121 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3e57ad6c-e8a5-4482-9129-8efdc14502b5 CAID:CA400029121 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 470f2b1e-4543-4991-b7e1-775e342e9936 CAID:CA400025209 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 99e71c98-2143-4b15-81bd-92e0bd398f24 CAID:CA400025209 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 78dba555-1e78-40d2-93d5-a4cfadf36213 CAID:CA915940728 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 94610bf7-48a4-4478-bf20-848d5679d315 CAID:CA915940728 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4f389805-199a-40c0-bdcc-8e1a247fc52e CLINVAR:695455 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9e2b5ced-ae1a-4eb7-80d9-79306f83532c CLINVAR:695455 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 146ccc44-7685-4da7-8e25-8dafaab3ba5f CAID:CA2499306877 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9bfc3f89-7091-4bf7-821b-e637aa255431 CAID:CA2499306877 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6d809b76-af44-43b9-93f8-e07920c9bad9 CAID:CA399802112 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 333af392-33bc-4fab-84a7-77b562b06679 CAID:CA399802112 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e9e6736c-97c7-4b50-8af4-96b8aa639495 CLINVAR:1330311 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8a2285ef-9d4b-4ee7-ae21-22408c987a75 CLINVAR:1330311 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6d533a42-5319-45cb-9344-c583e8f4b160 CAID:CA915940726 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ce99df7c-f91a-476c-b63c-7e5abd57dec4 CAID:CA915940726 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1b4eaec1-8423-4f1f-b91f-fcdbe7737976 CLINVAR:13565 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 86cab3b1-1ca1-4cb2-8f15-2064ed5eed86 CLINVAR:13565 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 100d6be0-195d-4001-9799-c2d8dd9ce844 CAID:CA626684825 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0b978e94-3975-4b4f-9267-44cd612d727b CAID:CA626684825 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9cdff5a8-51ad-4ffa-9ab9-a8ca55dee566 CAID:CA400028591 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 642ddc4b-a4fe-42da-adbd-2f1afffbd0f8 CAID:CA400028591 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f7ccd6f5-fcaa-4a61-92f1-2d860946a36c CAID:CA915940291 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 96f1f776-9c82-4c6a-85e0-1d1a729519e7 CAID:CA915940291 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2294da51-f580-48f6-8231-181342187ab3 CAID:CA913012619 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 205590f3-660b-4a91-8b77-c0fb6a7d5fae CAID:CA913012619 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d3fb02dd-b443-4d88-aa82-33f9a39e2eea CAID:CA399805570 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2109dcbc-950c-4da5-aff0-4e37e266fa71 CAID:CA399805570 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ec96c917-1482-458d-b4ee-ed73b42899db CAID:CA399802403 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 558e9196-af80-424c-b06a-f54cf2ea817e CAID:CA399802403 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e6bbe5d4-a287-4621-8815-15e7b51f63e1 CAID:CA923726222 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 01ed3039-8393-403e-b2ac-43f0217d595a CAID:CA923726222 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b4c96a47-57de-457c-a893-eaaf7f4352c4 CAID:CA923726221 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e65977d7-2f24-4f2e-92e9-8a2f3dc54e4e CAID:CA923726221 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dced1b1a-f418-40a3-83c4-72093ac797fb CAID:CA915940256 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f7223406-e48f-494f-9b00-d29fd23600e4 CAID:CA915940256 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 38625782-d823-4256-8443-a8b428f58100 CAID:CA915940255 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d56812e0-e7b9-4b55-b90c-500b29993188 CAID:CA915940255 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7ce7e1a0-1042-445e-a1fe-ddefcdd7355b CAID:CA400032429 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 87501d10-05cd-4a90-998a-421852337746 CAID:CA400032429 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4c3aca1a-19a3-4da6-b71b-b89c1d12c653 CLINVAR:13556 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5f345e09-07ea-4f7d-92ed-b49f91f003b2 CLINVAR:13556 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 58d43fbd-1109-43e7-acd1-401942d6c9ee CLINVAR:1330325 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ac681592-d94e-439f-a0cf-fbe4c0b8ebef CLINVAR:1330325 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1d3392bd-4f01-4871-944c-fa5ca08991c7 CLINVAR:1330326 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 14a5685c-bf7a-43b7-86a9-83fbe98927bb CLINVAR:1330326 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0ecec0fe-0e2a-40f8-855d-0f898427f1e7 CLINVAR:1330327 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fa8bbe39-e080-41e0-9187-8fa44bacdcaf CLINVAR:1330327 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d5c19a18-c502-4e19-97bf-9d7f5134b5e3 CAID:CA399801004 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9726d7d6-f589-4350-b2b8-df2964c9e357 CAID:CA399801004 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f1be986a-dabf-4ced-9dd1-0bac7046af67 CAID:CA915940253 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f5324d2f-5f69-4fdf-b262-248fb1b67abe CAID:CA915940253 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a4b904a3-38ec-4a8d-9c16-268f64ddc2fb CAID:CA400025098 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5574e7ea-2b76-44bd-9446-30cf42b9eb69 CAID:CA400025098 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 142835d2-b9ea-4d33-9ce2-8de9e5e6c6e0 CLINVAR:1330333 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 49955002-cdf8-4b83-ae96-99d929a7fbef CLINVAR:1330333 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cecc3e52-0f85-496e-8a89-d64b3e19dd7d CAID:CA400032983 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 35a47efb-f784-4d2c-abe4-dcf7bbbd6b7a CAID:CA400032983 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7d88d011-5817-4f29-a4b0-551960fd64e1 CLINVAR:1330335 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2e8a995a-db34-4227-8e0c-9318319bbea0 CLINVAR:1330335 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 422e7a2d-8584-4b6c-9755-30a8cb8ecdc4 CLINVAR:13562 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4ec3e25f-11c5-4908-8442-ecca866eba4a CLINVAR:13562 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 78452ea7-67af-4436-bd2e-dd5b64516406 CAID:CA915940237 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 09252c6b-bc08-404a-b266-d92822cc6cfe CAID:CA915940237 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9762c248-5bc4-4960-b233-6a8c15c8c82d CLINVAR:1330339 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen fbdf31b7-fa44-4b45-832d-854c45e043d6 CLINVAR:1330339 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 97a13ae7-3603-4450-bb05-ea573e905c49 CAID:CA400021329 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4aade484-a55c-47c0-ad05-91f1e7ee4e1d CAID:CA400021329 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 999b5123-b7cd-4700-a441-83b45a5ae1d6 CAID:CA915940309 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2c86d607-e5a3-4763-8788-f1dd81d1bc97 CAID:CA915940309 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5d3fd9fc-0f11-4902-9782-fc6422eb8b4d CAID:CA399805691 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f9d2ad52-8c1d-4e89-95a4-0c2de57a41e0 CAID:CA399805691 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f925b3d2-fdb1-435a-b693-4ce7bd5ba808 CLINVAR:1330343 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 898955c7-e1da-40fd-91f6-87d79521fdf4 CLINVAR:1330343 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ba6ec2e8-18cb-41bd-89ef-196565338f3b CLINVAR:1330344 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2b5e164a-7886-46be-bed5-18ab7fb4e2dc CLINVAR:1330344 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a158845e-f1ae-45d5-bd96-37aacfe7a355 CLINVAR:1330345 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen aa75e231-0986-41f2-a325-63fc27ff1581 CLINVAR:1330345 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7118b761-1b2b-4562-b0a1-396001014c2a CAID:CA399805552 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7ee170ec-166b-4ea0-995d-fcafdf75fd6d CAID:CA399805552 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e8131430-dfe0-466a-b7c9-6e615203d0bf CAID:CA399796017 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d245e9c6-e279-4935-9f8f-cac7a66de5cd CAID:CA399796017 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 380e9c36-1e8e-4318-b21b-a14a6fab4e69 CLINVAR:1330348 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen dfab64da-7c6e-4133-9ef6-27200918e329 CLINVAR:1330348 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 437863dd-cc2a-4077-964d-d62eed854e44 CLINVAR:1330350 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 21314a0e-994a-476e-9225-a57396d5b4b2 CLINVAR:1330350 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0bd70d25-9193-4601-8534-5d6e663d6835 CLINVAR:1330351 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 767b4860-dacf-41fc-b3e9-838cd43224c0 CLINVAR:1330351 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a55bd13a-92fc-4033-af94-59c1fe51767a CLINVAR:189776 biolink:causes MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2b0ad2ea-002b-4d39-b473-b04d4aa6fb3d CLINVAR:189776 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9290f869-98f5-497c-ad1d-a72f0e04b22c CLINVAR:156661 biolink:associated_with_increased_likelihood_of MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 35f760c6-c3b9-48ad-974e-296dda3a895d CLINVAR:156661 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 43aaf9d3-fadc-4cce-8f10-6c5f37a7e10b CLINVAR:143700 biolink:genetically_associated_with MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b1c8eddc-8afa-431b-be2a-e46fb35c521a CLINVAR:143700 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3c1678be-1205-4502-acee-7208193afdfb CLINVAR:143563 biolink:causes MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2a0ae33c-21cd-4efd-93c6-ab35ba7240a1 CLINVAR:143563 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e77ccd57-5da0-4e72-87e5-e4a3aa535788 CLINVAR:143590 biolink:causes MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d1f9e4ab-b160-43d7-af8c-a267734f4c82 CLINVAR:143590 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c72d29fa-1930-46d8-be18-ecca9e7d3009 CLINVAR:143583 biolink:causes MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0891f45b-6713-4ce2-b6d1-87d58fc7a3a9 CLINVAR:143583 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d4f35f35-83c5-4c5c-af6c-95e75953d4c1 CLINVAR:143579 biolink:causes MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 46dc164b-ff60-4b3c-8959-42bcdf593e05 CLINVAR:143579 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d39eb416-97ed-4e9b-afab-94bc94f6bb2e CLINVAR:143564 biolink:causes MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 77a5fa79-832b-4dc1-b2f9-9f207b581fcd CLINVAR:143564 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8dde61a4-0171-47b1-ad6a-313dd1e1159f CLINVAR:143559 biolink:causes MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 990bcc88-a139-4394-8367-1113cbc97844 CLINVAR:143559 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 962475af-de95-4081-9ef8-394229f4352c CLINVAR:143552 biolink:causes MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c1195bab-7c97-44d8-97b8-0e1bb694ac7a CLINVAR:143552 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d7e9c870-7f8e-4646-8b5a-049dceef4166 CLINVAR:143546 biolink:causes MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a5a78971-52b8-44b4-92b3-78a55a3d3396 CLINVAR:143546 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cb115bf6-bb2c-43e1-a73e-73eb3c91b8ac CLINVAR:143541 biolink:genetically_associated_with MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d0fbbe99-0086-4cb4-8423-dd33895a3ffa CLINVAR:143541 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ba668a1c-2d9a-462a-a347-bf97a5bedf61 CLINVAR:1334145 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1bafec9c-21be-4054-894c-371da0b2ddf5 CLINVAR:1334145 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 63b64e3d-a871-4673-a512-70a2f3e9869c CLINVAR:1334147 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 830387d8-c403-498e-a3d5-1b2ee4347908 CLINVAR:1334147 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2e861cb2-8064-4787-98d3-4bc2484b41a8 CLINVAR:1173962 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 274a0d91-5f1b-4d83-a3c7-d65e4dd621ba CLINVAR:1173962 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7ea99aec-c504-4564-b419-12d7ae7207ed CLINVAR:1334148 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5b9bec3d-f71d-4863-8103-5e89e42fea72 CLINVAR:1334148 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9e5e0a17-d04d-4a81-87d5-2d69ed74fa17 CLINVAR:1334149 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6457a154-d425-4caf-989c-2c717244e7d4 CLINVAR:1334149 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8247e1e6-a80d-4925-8f57-441984d87ed4 CLINVAR:805632 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen cc47deae-48cc-4126-8f15-e260f94392c1 CLINVAR:805632 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 68ac0967-3b7b-4c38-b1f9-584c2edff583 CLINVAR:586792 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1bb42add-6204-4219-bdcd-0c7c3212bd8d CLINVAR:586792 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3ff647db-8600-4fcd-84ca-feba1c039d0b CLINVAR:36826 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 231e2fc5-74b4-40c9-bef8-a53436b2957b CLINVAR:36826 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5df18020-3688-42dd-8597-7677c0571da4 CLINVAR:420064 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1f3f3e24-a3a9-4d7d-b5f3-ab9891bcd6a5 CLINVAR:420064 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9d339354-40b0-4f03-9a3c-6226d10b28d1 CLINVAR:1334142 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b19aad51-d3b1-41de-be24-65c213c29dd1 CLINVAR:1334142 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c6b2a0c5-4a1e-43e1-8ca5-8ad6a9d92ed3 CLINVAR:1334143 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5e2e8e30-3b72-4828-ad51-c36058465d69 CLINVAR:1334143 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b14f9ba9-b440-4e3c-94ae-23320bf30606 CLINVAR:1334144 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen de68a1ad-e7f4-4b78-93d2-4f5c726051a3 CLINVAR:1334144 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6ce0b34c-6de4-4d36-9147-d2533a760189 CLINVAR:972754 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 50982550-3d81-477c-a067-d4dadc0cf8bc CLINVAR:972754 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 951ce64b-f4d3-43d2-9e9f-9bc3271fd91c CLINVAR:447499 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b7fd25ac-7146-4df8-a4bd-c713733f6174 CLINVAR:447499 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bafc72dd-1a91-478f-b0d9-528235bf3cb6 CLINVAR:435424 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e3321cec-6595-428f-95bd-f4f6f2bddd99 CLINVAR:435424 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d54040ed-247f-40eb-b324-8c079d5da698 CLINVAR:972814 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1b74c420-83ce-49ee-a159-481b0d41dda0 CLINVAR:972814 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d3e4d9a2-8138-4a7c-92bb-74f9a01f62b0 CLINVAR:805637 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a39ff1b1-9525-431c-bf47-01efba06eaab CLINVAR:805637 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fc78f30c-b88c-4c52-bcbd-986cccda8d8b CLINVAR:129226 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ce5cf290-af48-4af6-90de-4fba2be10843 CLINVAR:129226 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2491d53e-857d-4e1d-b88e-4e5e69692877 CLINVAR:36796 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen fb2d8905-e042-40bf-887a-f4ef5c1bb909 CLINVAR:36796 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d7acd3f5-7d7d-4cde-b447-d4d0fe328fec CLINVAR:435426 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 08890d45-b8d1-4d5e-97d3-b2ee54b52eb9 CLINVAR:435426 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 65f035ff-4a9d-4e0d-a970-d13d44e87cce CLINVAR:36797 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen bbb38362-2094-4a32-aef7-c84001b9e22e CLINVAR:36797 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ca9f714b-0b0e-40d9-b8dd-80b5615c4710 CLINVAR:14928 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6871105d-b7a2-456a-ad2c-6d9d4c9d3239 CLINVAR:14928 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 48869581-7c88-43b0-b298-5b518d6ee987 CLINVAR:435427 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9f155911-5ed8-4736-b4bc-934677cac1e9 CLINVAR:435427 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2ae3dbba-dd81-45df-bf85-f2b30d463f2c CLINVAR:489311 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6b19e822-cbfb-4d20-88b4-66f732758e13 CLINVAR:489311 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fae0cc85-7526-4eea-9bfe-175fbffd75ca CLINVAR:449404 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen db5fd6a7-3a41-415a-af6a-8dd0c788f5fe CLINVAR:449404 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d7d40e91-e6ac-4fa3-a45b-738d2d335f5c CLINVAR:14947 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen bcee65f1-b67f-4f99-b4eb-ad8bb5ff7bd8 CLINVAR:14947 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aa2aee56-09d1-4a9d-acbf-5aea756d343c CLINVAR:156667 biolink:genetically_associated_with MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8c53bd81-6168-429f-baeb-ceb7512913cd CLINVAR:156667 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c3a50951-cc2c-4f2f-b804-e54d744b27cc CLINVAR:440546 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen cdc9ad1b-3e32-4964-aaf0-3ba1940dcb3c CLINVAR:440546 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d14c0181-9135-42ab-80eb-7514ba04e79f CLINVAR:440552 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f6bab57c-f25e-4a16-9d3e-e27f945a7fa8 CLINVAR:440552 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 02cf98e4-16fe-4721-bdf4-bead69a3dcb0 CLINVAR:161266 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e396555f-158e-4625-997b-516856db1824 CLINVAR:161266 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 55f9a648-a0b6-4ff9-b76b-6db7cda6e92c CLINVAR:251213 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 08ae2187-da00-4c67-b561-4b4513895fbc CLINVAR:251213 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a23f6b28-35bc-42be-810e-e0a7f2cf7c78 CLINVAR:251340 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f60b2811-f4ac-492c-8ea0-dc6581dbea17 CLINVAR:251340 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5da72d25-eae2-4c02-a229-568266ba2985 CLINVAR:430763 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f06c297b-c66d-4da1-b299-0dc518876d6b CLINVAR:430763 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 963539e6-7f3f-4e85-a8d6-67d5401429aa CLINVAR:251471 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3d93548f-11f1-420a-8b09-1446a5c4f368 CLINVAR:251471 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d784581a-3f2b-4c35-b65f-128b32b90727 CLINVAR:631358 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 62e556f0-b1d1-4a3a-a5cf-fea9da6675b1 CLINVAR:631358 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 370eb413-c1f9-4b37-8f1e-c785e472c74f CLINVAR:252137 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 87e68b5e-aecb-4da9-aa75-098e232ce1ac CLINVAR:252137 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9fbfbbcc-fae3-42ab-89a0-ace0288f357e CLINVAR:161277 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6e187c21-4857-4106-8aa2-d7011bcea745 CLINVAR:161277 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d0f446b4-aaf1-4a6f-a0f3-975b5a024e8e CLINVAR:373430 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 74c041d3-f1b1-4c36-8db5-3a1bb7ad1282 CLINVAR:373430 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 720d5d80-3223-4021-9391-72edae16935e CLINVAR:251739 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 24572e05-b7cb-4429-8741-7c01fed4e802 CLINVAR:251739 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a73105c5-1212-4719-87df-40ded1d384c1 CLINVAR:251740 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3a93329e-ea1a-4e54-b2f7-3f4d782b5b9d CLINVAR:251740 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 24581810-bf9a-4ba6-ba35-f9b630bf4f15 CLINVAR:431524 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 235f4934-b211-4350-b9a2-1c47d66940a7 CLINVAR:431524 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b55aad41-39e7-44c0-a737-2cfa56628753 CLINVAR:226313 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5c7e4f00-8a2e-4053-af93-bf33562f7c7b CLINVAR:226313 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a1484160-f9da-49bd-8632-d1ce931dd579 CLINVAR:251107 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1bf5ef81-d46e-4d79-8ce8-8ac69e4d7487 CLINVAR:251107 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fc5990a8-1de1-497d-beec-a05907152fa9 CAID:CA405685492 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8f1d0e3d-2a8c-4f60-862b-ba51799c8423 CAID:CA405685492 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 446c2612-34b9-46e3-b6df-f470fa418f18 CLINVAR:1330371 biolink:associated_with_increased_likelihood_of MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c0abf11c-7666-45cc-bedc-6aa66bf803ab CLINVAR:1330371 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5f218ac2-9fac-4d75-a808-6dfcbf435c6b CLINVAR:133100 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6010a73a-4187-4c51-ad48-e9f29169ae84 CLINVAR:133100 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d746d08c-0062-4da9-95e9-a2da787d4359 CLINVAR:65986 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3d8d4300-553d-4057-aa4c-0ca6dda7e94b CLINVAR:65986 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 42ec2112-90cd-49f4-a704-49da4494932d CLINVAR:1330372 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1162be8b-44f9-4129-a835-aa2e2d6a4bab CLINVAR:1330372 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2656a8c7-11e1-4e66-b7b5-311b6bdb7f27 CLINVAR:161366 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a868427d-5bf8-471c-b1ae-47b4208c579d CLINVAR:161366 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8bc51aba-e415-40fd-90f9-22a93cc55761 CLINVAR:133164 biolink:causes MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7397738b-5e21-42b9-bd35-a34bb95b104e CLINVAR:133164 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 04135abc-cd81-4be6-b889-e36b4a0f8072 CLINVAR:12984 biolink:causes MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a6103a7b-b574-4ab5-a586-80af5e8ae8af CLINVAR:12984 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3fd9ceb6-49f6-404e-b91a-bcb9230386bb CLINVAR:374083 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1f0eec40-88c0-41b7-8442-ed787fad1c77 CLINVAR:374083 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1d429bae-e8b3-4cf6-b71c-5a858b4e2405 CLINVAR:12982 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 28bb2fcf-f5d3-4ec9-9fbc-15763fcc0739 CLINVAR:12982 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c9011be0-5eea-4c31-8086-eb47743718cd CLINVAR:159865 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c2704fac-c46c-4d58-9fcd-fef1542aea43 CLINVAR:159865 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ceab5efc-9f72-4c53-b28b-da6630bb42a4 CLINVAR:329095 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 37e1f02f-d386-4ebe-8110-562b7263cba6 CLINVAR:329095 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0f1629df-9802-4c00-9a38-12c19c6e2cab CLINVAR:12972 biolink:causes MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b4130acc-1fa2-4e2d-a647-ed0f16a0e8a3 CLINVAR:12972 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1f69847a-f329-437f-937d-19d112c1118c CLINVAR:188773 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 37e00791-be6f-48b0-9948-1d018f6c254b CLINVAR:188773 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 830c1fee-69a1-47e1-899b-d902f4061b81 CLINVAR:371126 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5607f8c2-795f-4e2a-b77e-d56cdd608c82 CLINVAR:371126 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2d3e03cd-10a0-4b33-814a-c48af6e06ea5 CLINVAR:933520 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f9764018-1ec9-412b-a7fc-f9352e7996dc CLINVAR:933520 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b3fb4c3c-61a1-4cd3-9f61-6d5cba8dec45 CAID:CA401360532 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 39c21b80-33fa-4a44-9699-1c11a4dcef73 CAID:CA401360532 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 329cb383-3a26-4a5c-914b-4e606aaf2809 CLINVAR:12977 biolink:causes MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e800f741-be84-4256-81f2-bfdbe3fa1453 CLINVAR:12977 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ab4690a7-41b2-4d9b-aff6-f77606aa1656 CLINVAR:12971 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen dbed2bf8-f970-4567-9603-ea30b8166c5f CLINVAR:12971 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ab5da6fc-c7c4-46a1-94c2-39eae7495486 CAID:CA399805999 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f5d0c255-484f-47ed-8702-196d2f226e41 CAID:CA399805999 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cc1624c0-4d72-490b-9b8d-56bd0e1b983f CLINVAR:1342944 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4f754e46-77fa-4e53-b710-5f4af4c1c8b2 CLINVAR:1342944 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 42bda63b-4f6a-4c28-8084-35429b8f870a CLINVAR:447502 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a06bf095-1ec6-4268-93dd-c0ca35af3c19 CLINVAR:447502 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f92274a7-3288-4c61-8707-5ede2afdb6ed CLINVAR:251582 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a7a1b416-4bf4-44ce-97fb-a4c37208104b CLINVAR:251582 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5533b386-4146-40a4-aa76-df00408b1d48 CLINVAR:251812 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ffd8809e-80ce-48f6-a209-0619c3cae3ec CLINVAR:251812 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1ac78050-aced-4357-a45d-fb9b06acef4a CLINVAR:548076 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 651a850b-52a2-4225-a8d8-11a260a0110c CLINVAR:548076 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7108fcba-7751-4425-ab18-a84e5d03fc0f CLINVAR:440642 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0b1c3d3f-56eb-4250-bbd8-4a4e9d41f160 CLINVAR:440642 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 42b56738-9450-446a-8a64-d2dfd6c5e3b3 CLINVAR:375840 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0e10c5ab-6d1b-4dbe-8bdd-81fadb70a7ef CLINVAR:375840 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 87b4b86c-707a-4fdc-aec5-242f5cad1266 CLINVAR:963080 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 92a6e915-8e5a-420e-abab-23b7589de1cd CLINVAR:963080 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d7448705-8b5c-4a6f-ae5b-32856e33f917 CLINVAR:183126 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen edff7e09-28a7-49e3-b21a-57f231ccbd0e CLINVAR:183126 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 86d502b9-7489-4da2-9589-ee1bde717f9d CLINVAR:252029 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8a5b6fbc-da79-4990-92d1-032838ee5453 CLINVAR:252029 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4e52532c-c997-4e85-a7c3-ac536cb683dc CLINVAR:1342952 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f1cc8262-92ad-4a18-803d-c64c28f407db CLINVAR:1342952 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b5d07ba7-ba9d-448a-b69f-bdb9d119d556 CLINVAR:1342953 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 61799295-3784-4b84-90fb-40ba1533c212 CLINVAR:1342953 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cd88c5f7-df32-4c74-8011-784c1ec0560c CLINVAR:1342954 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a3f7d570-6697-47ce-a1a3-b5e801471511 CLINVAR:1342954 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7e63f80d-a494-4cf5-9d9a-e69344796202 CLINVAR:1342955 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 745da9f1-1bf5-4a8c-a45a-0a0b88c162d4 CLINVAR:1342955 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8cb9c37e-10f4-4497-9109-115c0f37649e CLINVAR:1342956 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 174b2d9c-63fb-4058-9950-6d2cf5aa97ac CLINVAR:1342956 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9caefe1c-dec7-424b-8369-ec6f5d8ef2fa CLINVAR:102812 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0b86ae32-7d76-479d-b0f4-640ce8e7f34d CLINVAR:102812 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2ebd9da5-aa5c-4d58-96b7-a7128bcb6e9e CLINVAR:102887 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen cf76c925-9841-44a3-b0a8-994b64226fa0 CLINVAR:102887 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 894ab25f-fdbe-41ca-9d3b-7f03929ded49 CAID:CA386954870 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 60afad94-c55b-44f1-a728-fcd43b87adda CAID:CA386954870 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 36a11465-37d9-4151-9817-75e982d7d290 CLINVAR:1342958 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ad58dff0-6f83-42bc-9533-4e677e368326 CLINVAR:1342958 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 07caaf90-8328-4b50-906e-6d2386ad02a2 CAID:CA16020959 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c06bbd5d-296b-45ca-bd4c-3715babc2eb8 CAID:CA16020959 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b362aef7-096d-403f-ba2b-526875817d0d CLINVAR:102923 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ea845b19-fbe9-4dcb-85b7-920c8051c09d CLINVAR:102923 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8f924f28-4760-4820-bbdb-4a642046dab6 CLINVAR:102862 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a21f9899-b73c-4473-86bc-1d856c083e8a CLINVAR:102862 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b540caaf-53fa-4a57-82b4-b46baf7d740d CAID:CA16020979 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen fd975265-19ae-4728-8067-60984912a122 CAID:CA16020979 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5a0a7a1d-6e07-4ad1-a4f5-39db9e3c8ed8 CLINVAR:102468 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 24d49c2d-d675-46fb-9bdd-3b083a197284 CLINVAR:102468 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 68674c1b-2258-45a6-98df-fbf1f91220d3 CLINVAR:102790 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 49b54f40-654f-4e36-8820-9056c1897d1e CLINVAR:102790 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 06b23daa-e14b-4f62-abd3-f04fe57b5e05 CLINVAR:102791 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c1d1eaca-3877-4316-844d-d24b1d40b10f CLINVAR:102791 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2f61f5da-84f7-41ad-8706-3014ea10c358 CLINVAR:102801 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5b6b2116-b548-4e1d-ba87-cdae1deb1ded CLINVAR:102801 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 042b1d6a-d679-4dc1-8277-26f801fb1bfb CLINVAR:102802 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ed92aa36-8e34-4375-8714-7262f7bfbe58 CLINVAR:102802 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 83f885c4-3daa-4a3f-ae64-ec41690a4754 CLINVAR:102809 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a21fe364-1b53-43e6-9957-f4bbec5cac34 CLINVAR:102809 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 71c125cf-e048-404e-ae0e-3b3a7720f92f CLINVAR:1342195 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b03f8d52-187e-44c9-93ed-16c017fac481 CLINVAR:1342195 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 81549eef-6e9e-41e9-bd87-a084bcbd9895 CLINVAR:1342208 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a7fad46b-7745-4333-9dc0-971ecc60c93c CLINVAR:1342208 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8f291bc2-ad67-44c0-a309-11df3f2dc7f4 CLINVAR:1342209 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8ac09dd4-ad03-4809-bda1-d75b00a21753 CLINVAR:1342209 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen de6cf673-d282-4826-a024-23805c91f0d0 CLINVAR:7959 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 53fe65cf-c5af-4e20-8980-4902f7dbfd06 CLINVAR:7959 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4a5afbc4-d4aa-4d60-8694-8bb4268e1526 CLINVAR:1342210 biolink:associated_with_increased_likelihood_of MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1e36bfe8-f1d6-4add-ad67-479fa01105e2 CLINVAR:1342210 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 386fe782-faa1-44dd-b344-e730b9c5b9d8 CLINVAR:1342196 biolink:causes MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b698f1b9-375b-4076-afe6-9a020ac7ef27 CLINVAR:1342196 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 07ecb844-fdc2-41d7-8675-5724a8fb633b CLINVAR:7960 biolink:causes MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 198b64c3-aa4e-40a1-a1a6-5720c1259dc6 CLINVAR:7960 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 67ba3ca6-9f2b-4530-b4ce-d5431ad7029b CLINVAR:1342197 biolink:associated_with_increased_likelihood_of MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d1d4742d-d45e-4689-8d22-70a953002e3c CLINVAR:1342197 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f25891a1-7762-4565-b86c-40e8b482ffa9 CLINVAR:1342198 biolink:associated_with_increased_likelihood_of MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d733c387-32a3-470e-a395-4bb8d53ccac3 CLINVAR:1342198 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7cac7ce8-cdbd-4d63-84da-fd33e9e41ce3 CLINVAR:1342199 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fdf07e73-bc20-4e37-bde1-4d565c98d70b CLINVAR:1342199 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5137865c-5d87-43c4-b3dd-211987849f54 CLINVAR:1342200 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 25310b92-44d5-4729-8a39-8d9ea0ef12f3 CLINVAR:1342200 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e98294f6-7ffd-4359-b14e-d75c1cec76f7 CLINVAR:7947 biolink:causes MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b32192a6-5d52-4053-822c-c2fb6a09b738 CLINVAR:7947 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a497927c-279b-47f3-ac9c-519beee454a8 CLINVAR:1342201 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fbccc1bc-1297-4ddb-af59-f9a7ad5b77e7 CLINVAR:1342201 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eabc39ca-a811-41a9-8592-944fc932426c CLINVAR:1342202 biolink:causes MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 03976773-230e-47cf-bc8d-2b8749c4c488 CLINVAR:1342202 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b5173b76-e5eb-4b6e-b8c1-5552dccfbb0f CLINVAR:1342203 biolink:causes MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 93f04ea6-a0b9-4bd4-8fa1-1bf51b925a76 CLINVAR:1342203 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0a04f220-71cb-4de0-9a65-4a562343a2f1 CLINVAR:1342204 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fc2f5cf5-b792-4b92-bcaf-e719d8a75d79 CLINVAR:1342204 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fe5b75ee-1c63-4f4f-a1f0-f509c4fdc44d CLINVAR:1342205 biolink:associated_with_increased_likelihood_of MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a264db4a-5555-4b9e-8afc-5d0ba95fa770 CLINVAR:1342205 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8024c1ed-770f-48a4-adf6-3ca4eaa2f7b5 CLINVAR:1342206 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1da4107d-238f-4e44-a2b2-21852cc026ee CLINVAR:1342206 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 15b34f64-84ec-4a72-937e-739859536d56 CLINVAR:1342207 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9995fd6c-dd2d-4a5d-98db-3ac0c056c5a8 CLINVAR:1342207 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2230e533-5d97-4fc5-b6a2-f5910a7d83f5 CLINVAR:1076425 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen eddff5ba-1752-45c9-906d-ff09485affc7 CLINVAR:1076425 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a665658f-d326-4dcd-98e9-0db4ba2fac08 CLINVAR:617952 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4cdf8864-8639-41ae-8b35-28e615bfaa6e CLINVAR:617952 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5b64b5c8-5428-4768-a432-8ef10dc684cf CLINVAR:447493 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6324cd59-5927-4930-ab62-ba3f0a216509 CLINVAR:447493 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 635c6a4f-98f3-478e-8548-2055044a1834 CLINVAR:1342945 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 56d76584-ae0b-4107-a3e8-97ebc9e285fd CLINVAR:1342945 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e2f63352-caf3-4aee-9277-0971dc9a703c CLINVAR:189172 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 11cb4ee2-57fe-427b-aa0e-0e44a8a89467 CLINVAR:189172 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b7444493-25f9-4d8c-9638-eae990522d04 CLINVAR:558634 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3b62850c-3f87-4460-84fb-59357fd51fb0 CLINVAR:558634 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen abc4bb8b-a4f8-4df4-ac12-b16be2d3f021 CLINVAR:558604 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1ee79b01-b0b5-4c58-af58-d05bfdf0d8c8 CLINVAR:558604 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 41858645-cdb8-4ee7-9a99-c901f26ea0f6 CLINVAR:1342946 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 52feef4f-c292-4c7d-82f9-b9ab2acaa555 CLINVAR:1342946 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2c6bb6d1-ec02-46f1-bf53-2a745b940922 CLINVAR:1342947 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 62d16ac8-7d2d-4dbb-8b6b-b07d48e00264 CLINVAR:1342947 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 895fb818-aa7d-4905-b5b7-afbe6ce96a33 CLINVAR:307454 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 27ad5e87-faee-4b69-aded-33a4434565e4 CLINVAR:307454 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d4656774-4937-41fd-ada2-2bb7b0a6262c CLINVAR:1342948 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 84a4cd6c-a930-430a-99d8-6dc00680a1f3 CLINVAR:1342948 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ecc7a637-3c2b-420d-9e55-f0bced2f561b CLINVAR:36814 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2590151e-d3de-4c87-84c4-e57fd7df9ddc CLINVAR:36814 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aa2ace82-3684-4ec0-a685-e867cba89d58 CLINVAR:502525 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3d86e486-ab36-45dc-80db-51b38a5d902d CLINVAR:502525 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 07090d1c-7bf7-42b6-ad4a-7cb8e1f672fd CLINVAR:1342949 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 08c83165-b9ed-45ce-866a-007724bf82c9 CLINVAR:1342949 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e1f27f7d-4853-4991-8100-a309f34648e3 CLINVAR:1342950 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen fe0c78cd-8617-4d5c-9c3a-db224eea28e9 CLINVAR:1342950 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1cc5830d-e6ba-48e0-b58e-6ee263eaeaca CLINVAR:1342951 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 63c05ea7-60e4-4bb8-8fef-0d37e18b618f CLINVAR:1342951 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d758d97e-21e4-4dd0-91b3-0936a9f98ddb CLINVAR:1342967 biolink:associated_with_increased_likelihood_of MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 620de2ee-9c5b-469d-9717-3f127735d0cd CLINVAR:1342967 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cf1a593e-6b79-4828-82b3-10b33f4d1ff2 CLINVAR:1342968 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 444c23ce-ac92-40c9-8516-950c0fa45614 CLINVAR:1342968 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1cc07dfb-81b5-42c6-abe2-a58c364973ef CLINVAR:1342969 biolink:associated_with_increased_likelihood_of MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c3399934-23c2-4340-a5ea-fd9f87a0a5e6 CLINVAR:1342969 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d733865b-6714-4141-a192-895eb9736f4f CLINVAR:1342962 biolink:associated_with_increased_likelihood_of MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 54cd8dfc-9326-4d99-a980-bbf50ce9a37a CLINVAR:1342962 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7c7411b6-e56f-40a0-bbe5-c5adb1a13c16 CLINVAR:1342963 biolink:associated_with_increased_likelihood_of MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0dc6f011-2d3f-482d-8b77-7cf1ef10c7b4 CLINVAR:1342963 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e474059f-1b2f-40dd-94d2-84eebb5ad399 CLINVAR:7949 biolink:causes MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 00291a23-facf-4a45-b629-36286e4beedb CLINVAR:7949 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dc864ea6-f6ba-47d1-ab05-2e1947ea792e CLINVAR:7948 biolink:causes MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen dedbb4cd-249b-43e3-abef-73f3f02ca017 CLINVAR:7948 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9abf7732-3ee0-42f5-b48c-d27ca9989811 CLINVAR:7961 biolink:associated_with_increased_likelihood_of MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1876af44-2a3b-4248-89e9-41fba735e65e CLINVAR:7961 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d82d6714-aeec-47ab-80b7-e53fca0ba638 CLINVAR:1342964 biolink:associated_with_increased_likelihood_of MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a69ee175-5588-49c8-b024-78f1e301d004 CLINVAR:1342964 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9fa842ca-ba0b-414a-899a-596c91b31d62 CLINVAR:1342965 biolink:associated_with_increased_likelihood_of MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 57b3df97-9b1e-49b1-9e95-a8e666ad2133 CLINVAR:1342965 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 78b554bd-7dba-43f3-b917-9b059f5dc993 CLINVAR:1342966 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0e07f69d-37fb-4aea-9d58-c7047d902f7b CLINVAR:1342966 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 48d7b7d1-7b52-4095-897a-c3dae0d93734 CLINVAR:7946 biolink:causes MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2ba4a7c1-1f1e-4145-bc0a-d859c6aead9a CLINVAR:7946 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c73c0f58-58dc-44ec-b606-7233b6a57c25 CAID:CA397726277 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d2fc5a13-138a-4849-93aa-beeda529b5b8 CAID:CA397726277 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b9d464eb-5396-4f71-b209-081c30fcf257 CLINVAR:554491 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 716a7486-d809-4c39-98ed-118578f4ace5 CLINVAR:554491 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8d8090af-3696-4141-8ca0-948ba6d4db00 CLINVAR:189159 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f33f4336-a99e-41d2-bdac-8b4de7bf513c CLINVAR:189159 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 09c2b172-597f-4953-a7e8-2f75f6636687 CLINVAR:474900 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen fc0ea2ff-cb43-4130-a1f8-9834b85e7396 CLINVAR:474900 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2bf699fd-00c5-4244-a228-c8712cfd12ef CAID:CA624861219 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6cfdf31d-5112-45d4-ad08-b5b022ea0468 CAID:CA624861219 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0513b499-1d75-4999-89db-622d512121be CLINVAR:386274 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b2375aed-899c-4bf7-8202-ce75d7c44b71 CLINVAR:386274 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 92929eb7-e9f2-43d8-bced-d8aebeae6fe9 CAID:CA397723028 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen bd98666c-e477-4cbe-92de-89efafbd79ea CAID:CA397723028 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f4879633-7427-4ba7-8af9-6a0b442876ce CLINVAR:141522 biolink:associated_with_increased_likelihood_of MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ccdf181c-42dc-48cd-aa7b-707966950d37 CLINVAR:141522 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 637c73a2-4ac5-41d4-986a-afb82cb1c425 CLINVAR:453341 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 645f2b41-3069-4102-979e-506ac876f538 CLINVAR:453341 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d621e4e4-d8ea-4290-ad8e-455c21eff622 CLINVAR:583716 biolink:associated_with_increased_likelihood_of MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen dada17fc-3e49-4b61-bbb4-2b83f0aeaafb CLINVAR:583716 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c01ecfa6-1c56-4a14-b5bc-1b6483070156 CLINVAR:453461 biolink:genetically_associated_with MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 195e2ffc-d1e5-44c5-9412-daea4fe7986a CLINVAR:453461 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 452c491d-fbd4-45a8-9742-071b0f75d557 CLINVAR:231535 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f1108e05-fbfc-4a50-b219-5909530b0d8d CLINVAR:231535 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d09efc43-930a-490f-8200-c926b20c0558 CLINVAR:3018 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 58049adc-e8a8-4d7c-98c9-d86b08dadcb2 CLINVAR:3018 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 369b9f57-ee58-4170-b8be-73c7c0db1842 CLINVAR:3033 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 271d5511-f301-4cad-90e1-62061baf47ea CLINVAR:3033 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 22fb2d8c-c9a2-41c6-b773-432b82859d1b CLINVAR:818362 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen fe80203c-84c9-4f63-867a-a43a394c3299 CLINVAR:818362 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7d998bd4-9616-41d7-a0d9-80bc4f06231f CLINVAR:140818 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9b1efddf-5e95-4af2-b343-bb9350cb078f CLINVAR:140818 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6c0a1dc6-5d68-42e0-9e54-dfa93aa1edb5 CLINVAR:407718 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen aa3d1013-369e-408e-abfa-37c66726b553 CLINVAR:407718 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 888caa26-9728-45a2-bf4f-42b90eda8305 CLINVAR:929198 biolink:genetically_associated_with MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6a640677-7097-4f0c-b108-cf30527678e6 CLINVAR:929198 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cf8b6d66-527e-4306-8ade-0b251a16ab80 CLINVAR:220555 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5a01db52-b11a-4f83-a397-4cb4ae1880a9 CLINVAR:220555 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e5506726-21cf-47e2-9c2a-c4a62928d49d CLINVAR:186558 biolink:associated_with_increased_likelihood_of MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ddcfe876-1ec1-4c5b-9e33-3b184d7c6ee4 CLINVAR:186558 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a8c4f069-d790-4e0f-8ab4-42ada0b8c43b CLINVAR:231842 biolink:genetically_associated_with MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1d781b5b-5caa-48b6-a636-377b526b1c9d CLINVAR:231842 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7d99ea97-980c-47db-9673-cb5010870dfd CLINVAR:490737 biolink:associated_with_increased_likelihood_of MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 86ef7ebb-991d-428f-92a9-04019814db41 CLINVAR:490737 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fcd50e18-f3bc-4e86-8389-742b5d0252b0 CLINVAR:3023 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d525336f-9355-4bce-9067-e4e0687121d8 CLINVAR:3023 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 34e0260e-c5df-4fd2-af7d-78cd6e5db45d CLINVAR:133641 biolink:genetically_associated_with MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 689860e0-c7aa-4d25-91b3-08a3f5fa7505 CLINVAR:133641 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 626c4cc6-e64c-452b-9d73-d9c6fc35446e CLINVAR:420799 biolink:associated_with_increased_likelihood_of MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 593ba61c-f1db-4a00-af89-eec2a52fcab8 CLINVAR:420799 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 22873ec1-3b76-4f46-a92c-e934baa0f5ca CLINVAR:187275 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6abc9749-c740-4840-85b5-fbcea4376864 CLINVAR:187275 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 813d19a2-910a-4a4f-bfad-37d455f64afe CLINVAR:141289 biolink:genetically_associated_with MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6a0da531-252f-40a3-8cd9-1506e356cf4f CLINVAR:141289 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 69bf7a4b-e5a0-4453-8e87-5c844c5140bc CLINVAR:3029 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0b1bca05-2a2f-4041-beb7-8ec21505246e CLINVAR:3029 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a8eb8707-2f29-489a-ace8-9053aaab192d CAID:CA16020825 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 69f6b6f1-423a-411e-b806-338274c9c451 CAID:CA16020825 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5d5750bb-69b6-42af-88c9-9e600d76597d CLINVAR:102534 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 958b5941-d9fc-45e6-9f75-31e56c8672be CLINVAR:102534 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f59b03dc-92d6-41af-9fca-131c60626c35 CAID:CA916084428 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2b746b69-2e91-4b0b-8d30-1e1ca3874ae9 CAID:CA916084428 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e1cf3757-9166-43f6-bc94-7f7995732461 CAID:CA645372267 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 32f624f8-e208-4fc8-a883-938ce6264326 CAID:CA645372267 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 80be16eb-fe6b-41ba-88a9-d127b7ebf6a6 CLINVAR:102820 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 09dac3ed-9648-4fe5-a085-a7bce9b997ae CLINVAR:102820 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a84caccb-135e-42ac-ba19-762a6d72d3df CLINVAR:102813 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 65d0d025-579e-4265-abcc-b89d29b08ec5 CLINVAR:102813 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8180b47c-9a9d-44d6-9aae-95a83a90423f CLINVAR:102822 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 555865b6-318d-4502-ac2c-411e000a2ba2 CLINVAR:102822 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 55e3fabf-7800-4806-a46e-308eff2417c8 CLINVAR:102830 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 95d72c86-c5b3-46db-8195-6d7424088400 CLINVAR:102830 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e33afde2-f3f8-4b4c-8af2-775a79ff984c CLINVAR:1693230 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d6ded6c4-df7e-4be8-8263-71b7338cc145 CLINVAR:1693230 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2f8c79c4-069c-48cf-b801-dd5650bb27d4 CAID:CA16020845 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen dfde75ef-fb9e-4ac2-970a-a6444c421877 CAID:CA16020845 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4b1c5063-a8e5-479b-9438-3427d644f517 CLINVAR:650581 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 43d9968a-e2ee-4158-94f8-4e5148b182d3 CLINVAR:650581 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cac8f20a-473b-4eb9-a4dd-b329c290069d CLINVAR:453367 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 44bb7f98-3f35-4323-be69-87f940cfcdb3 CLINVAR:453367 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fe867d87-dc81-4b47-ae88-cfe560c51d92 CLINVAR:449521 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d427bc3b-5b7e-4e21-8f0d-a013cee2bcb0 CLINVAR:449521 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 94667a74-c849-4463-80d7-bbac767e22e0 CLINVAR:562372 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen cc2ea5bf-ad7f-4186-89c8-2f218195b4df CLINVAR:562372 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b11bd2ac-d0db-4d06-84b2-1cd93d88449d CLINVAR:40153 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ce5810ea-d395-4be0-8d77-3b36b8db0b09 CLINVAR:40153 biolink:is_sequence_variant_of HGNC:7414 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0c99395e-18a1-44c1-8e03-958069001690 CLINVAR:9650 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1ee7d4f6-2f1e-4531-8359-70c4d447dead CLINVAR:9650 biolink:is_sequence_variant_of HGNC:7414 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e6cd5d1d-acb5-4a75-b7bd-c270ac81c96b CLINVAR:9645 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fe2170bb-5cb0-4e6a-8011-b32c40b90024 CLINVAR:9645 biolink:is_sequence_variant_of HGNC:7414 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b7621d34-d7bf-4f6f-a485-55d6b89965e5 CLINVAR:9733 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3a879b05-b6ee-4070-bbfc-d4143e6d7884 CLINVAR:9733 biolink:is_sequence_variant_of HGNC:7455 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1af500b7-3605-430c-8b63-f0f821df7912 CLINVAR:65519 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4c01988d-be45-40b0-b33c-c92bca45ead9 CLINVAR:65519 biolink:is_sequence_variant_of HGNC:7455 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1317296e-84fb-4365-b90c-58e6da934f9a CLINVAR:9736 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 62184f25-7948-4f08-b567-30fece422c04 CLINVAR:9736 biolink:is_sequence_variant_of HGNC:7455 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 28805dc3-7a91-40d4-8ff4-2aa5b5cc56d4 CLINVAR:1675057 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1aba27d7-dfbb-4c65-8aa8-334c33a3e2e2 CLINVAR:1675057 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8ca7ef07-85c6-40a5-8c8e-10d984d6a2b9 CLINVAR:1338407 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 95d31987-efc1-47cd-9fd0-371bd5932d17 CLINVAR:1338407 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 77d2dce9-9c7a-4adf-bbdb-cf8c6561db5b CAID:CA386952304 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen fe752754-0661-4e75-afe4-aa319b47d963 CAID:CA386952304 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d92fae50-ebcb-4730-be9e-133d0423bbe0 CLINVAR:994546 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3261aafa-8e55-4663-833e-eaf148be8e92 CLINVAR:994546 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 59c8f1f4-1b3f-4e52-b623-37e0cac13995 CLINVAR:1675061 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9c68e8b6-aade-4caf-909d-2fc745c4de4e CLINVAR:1675061 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cbc8118c-5b52-4285-90b7-fb8ca144bdb5 CLINVAR:1675062 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a583059e-6c54-479c-a351-69e7bb9b3c83 CLINVAR:1675062 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 32ab1ba8-bbb2-4ffc-8ae3-fcd1c81edb4a CLINVAR:1675063 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9a322e2f-8c91-4788-ac09-4994f80233b0 CLINVAR:1675063 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 533f33da-cb16-43e7-9e10-a3976b6bf2b2 CLINVAR:1675049 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b5c63a01-cc68-4bb3-ad18-df41f7fff734 CLINVAR:1675049 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fe69ca38-e306-43ed-9305-60e5df56810f CLINVAR:435422 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f4567879-95f2-4c51-b23f-fdbb1bf527a4 CLINVAR:435422 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6f0619c6-f798-49b3-a4f0-f3883fd108fe CLINVAR:12976 biolink:causes MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ff6cba8c-5f80-4ea6-8b94-f573575c113d CLINVAR:12976 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 79d3352a-2957-462c-a4d5-5418c435c4f9 CLINVAR:12967 biolink:causes MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 56f16537-5ce8-49dc-a6c3-e928b99d7f05 CLINVAR:12967 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0be52624-84e2-401e-ac23-2083045d3018 CLINVAR:133029 biolink:causes MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1c647bb1-c97b-4104-aafe-9855fc63f015 CLINVAR:133029 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d9bfe108-5eb4-425d-bc79-a61bf398067d CLINVAR:133106 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 55bf8778-9721-4285-aadd-a154a4784e0c CLINVAR:133106 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5a0b07c7-94d5-46e4-8179-89c05efc7932 CLINVAR:12974 biolink:causes MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d427b025-fea1-4caf-8b1a-b26cf5da48c2 CLINVAR:12974 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8a94bb89-1ecf-4371-ba2e-c24c612c0897 CLINVAR:1675050 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen db5eebca-336d-4649-8788-2d28035f67c6 CLINVAR:1675050 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5287f6e2-c4e0-40fa-9480-e1138b4c5f79 CLINVAR:1675051 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b919429e-bf3f-41ee-9634-dbc6d82520d7 CLINVAR:1675051 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bcabc8bc-9a46-42be-81e2-46164d2239c9 CLINVAR:1675052 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9e587d8e-577d-4edb-a9c5-889358ec61e9 CLINVAR:1675052 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 11925f1d-1b51-4134-94c3-feaaabfb468b CLINVAR:251552 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2d922e16-c02d-403a-80cc-df8568cbb475 CLINVAR:251552 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2c14b848-08d1-49c6-8166-174127c86ec1 CLINVAR:996231 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 75ef6bbd-1b59-4433-9507-c2eea5382bff CLINVAR:996231 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 489e454f-c6b1-4c12-a66a-3bff06a0c407 CLINVAR:225097 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d4b8d79f-cf02-49dd-8fcc-799bab8170b4 CLINVAR:225097 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1d6f9bb0-3145-4e40-b045-8e24067d880d CLINVAR:251747 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8dd0565f-a4de-4170-8f91-4e187e171c86 CLINVAR:251747 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 20d44a6d-94b1-467b-b096-17423cdf853c CLINVAR:183123 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0f815f1e-907a-4903-a825-b7a00b4e4966 CLINVAR:183123 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aa5d34a0-52fb-4c45-af10-5036114d78ef CLINVAR:251996 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8589fcba-86c7-415b-8e21-2247ad3f38d7 CLINVAR:251996 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6337839a-8a94-458f-98d2-6121af4d3a17 CLINVAR:237867 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b218bb7e-83f0-41a5-b1d7-6d006034f13a CLINVAR:237867 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e91d646e-463a-49b4-8b21-946c8b682064 CAID:CA2573051031 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 78f0f4a5-13ac-48b1-a83a-059903259660 CAID:CA2573051031 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6de8e786-abe4-4cdd-b582-93f3c657f8ff CLINVAR:1675054 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1335fce5-d6b7-4242-9b3a-3cbca9f8c9d4 CLINVAR:1675054 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f92936b4-aaf2-4fb1-ae0d-7d5a4d7fbb44 CLINVAR:1675055 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen cf433284-9bb8-4237-90ed-6812fd2afae4 CLINVAR:1675055 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b4742927-0fde-4e31-8b33-efda747b6eaf CLINVAR:1675056 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 30f45e53-2ec6-4693-913e-91371091f394 CLINVAR:1675056 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bf1ec9f3-6def-498f-b96b-28b117bc149f CLINVAR:972749 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c6a5e043-0ae1-43d2-b734-ef2dcc4df2d7 CLINVAR:972749 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 82701c5a-f915-4922-b447-6b72abea4970 CLINVAR:418252 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b806bff8-8620-42c7-9ff7-109e79a909b4 CLINVAR:418252 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9cdf7723-987d-48c7-9cf4-63c6e34baeff CAID:CA2573051032 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen db3ff8b2-e75e-4e32-b0d1-a6cdaf10b751 CAID:CA2573051032 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6dc0cf41-9623-40bd-b916-8cc48b818e0b CLINVAR:134506 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 21d400ee-2256-4c19-b1cc-7b33bf50dfc0 CLINVAR:134506 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e45bb260-e639-4bc0-9a94-a8f203394278 CLINVAR:1675059 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 46ccddbb-80c9-4557-a845-658666f57a22 CLINVAR:1675059 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d8f0c56b-ba41-438e-9c74-3a9355cce4d4 CLINVAR:1676683 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7d8a91ad-06d4-454d-8d0b-9590a224a8ce CLINVAR:1676683 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eeb41d5a-37fb-4160-88d8-0e718ea6eec1 CLINVAR:1676692 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5b75f694-6d10-4c25-98a0-c98220af525f CLINVAR:1676692 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bedfc86d-6784-4ec1-acf0-c8e82669980e CLINVAR:1676699 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ba565b7b-6107-4d8e-b0c3-250c19f5ff87 CLINVAR:1676699 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 71bd45cf-8a32-486e-8ee2-daeb7df0fdcd CAID:CA386952811 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ae877cf9-eab3-4697-8f27-8cd5debd4e18 CAID:CA386952811 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 86362781-e444-492d-8697-3d61bbfe6968 CLINVAR:1676707 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen eb149807-3e72-4faf-8c25-3ed97404310b CLINVAR:1676707 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1135da8b-7dad-4dad-934e-c3d6e7a53975 CAID:CA386953008 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2453e6e0-1ae1-4ed3-8b95-e9c5fd7fc543 CAID:CA386953008 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c443e816-7a88-4460-bd85-1567453801b5 CLINVAR:36798 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 131e8729-c501-467f-ba46-1bf1b3d1c8e8 CLINVAR:36798 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d5f5596d-b62c-4cf7-9968-d7afeb3618d5 CLINVAR:1676720 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 011b9851-e884-4d5b-bff2-4b59acc90473 CLINVAR:1676720 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0378b4ca-6d97-4ad4-9c70-f771bb015197 CLINVAR:882461 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 45cabb7d-6d29-473a-9da3-036a0aa33ff4 CLINVAR:882461 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3a919bd6-5246-4860-93ff-170b84e9ca1d CLINVAR:1676684 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 656bbac7-136f-4e24-8dcf-48b6fde7fe4f CLINVAR:1676684 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7fbbb5f9-4bdb-4f8b-b5b7-e91c50a61e54 CLINVAR:14938 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9fdaaf49-e3a3-4a24-9688-20191946302c CLINVAR:14938 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 58207741-98e1-4273-bfd8-54eb0bf6d49a CAID:CA2573051034 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9a498226-d750-4fda-a3ea-a6adea6f7322 CAID:CA2573051034 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9d5d2ccc-4a5b-493a-abad-ca4bf0b3eb04 CLINVAR:36809 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a2512c4f-468b-437a-93b0-ba54242448cf CLINVAR:36809 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2269066d-a8f4-41cc-b9c7-0a7540cccedf CAID:CA2573051035 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3d4dd7ef-eef3-4aa3-b46e-e0c8fdc34b65 CAID:CA2573051035 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a2fc768e-19b6-4abf-ba4a-30da819ad3a6 CAID:CA2573051036 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6f49f806-f724-4148-ad67-9986b3ad653f CAID:CA2573051036 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2c1ae25e-e196-4690-ae6c-f58300b3a142 CLINVAR:1676688 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1094f619-369d-4b00-be30-cd05b4f0243b CLINVAR:1676688 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 049ffa8b-7370-4fdb-9cef-33bef864997e CAID:CA2573051037 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1a384184-f028-46c2-8614-374156cf4161 CAID:CA2573051037 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen adb443d3-1b56-4f03-9803-bfcf2c31f1bc CLINVAR:1676690 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fd6c1e77-8e0d-4a20-aba3-a13a0fcca3e9 CLINVAR:1676690 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8c68aec6-0db2-4b2a-9a76-639bb8e92121 CAID:CA2573051038 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c0a6489d-52d1-44a9-ad51-d4dc7c891a32 CAID:CA2573051038 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7214049b-cc9b-4395-a6b8-7ed4cd6fc602 CLINVAR:1676693 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f7659f47-2834-4cea-966f-7cd66dd02104 CLINVAR:1676693 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bc5952e3-8df9-4df8-9d00-c591340f58f0 CLINVAR:1676694 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen db981565-f92d-4f25-b510-82d788737aa2 CLINVAR:1676694 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 98a3abdf-b6d0-4257-bb8e-44609c82a311 CLINVAR:251581 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ddd44fcd-703d-4385-89be-0e681cbf816b CLINVAR:251581 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fc8e8acd-f942-414d-9fde-b2a447270ad0 CLINVAR:3692 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a0b8ff6e-7c12-4de3-8260-3a50a88d30d6 CLINVAR:3692 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 11433e94-4ac0-4ba9-a790-c0036489f10f CLINVAR:440612 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ae42e299-f84e-4efd-99c6-f7125bac0c02 CLINVAR:440612 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3cf52075-9e2f-4060-a8ec-3726c51a7351 CLINVAR:226336 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 22644062-49f7-4985-b68c-9ce9af7814d9 CLINVAR:226336 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8ebdda67-5fca-4c24-8483-26b1547594e4 CLINVAR:251532 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f0028fc4-dfaf-497c-a989-cd780d50f8dc CLINVAR:251532 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b0f0508e-14e7-40a0-b251-e8eb5354b822 CLINVAR:251531 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fe8aad21-98ae-4857-a442-0ad7aa9595f3 CLINVAR:251531 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f31c443a-d88f-4305-90b2-a6eea0a3e6b3 CLINVAR:251782 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9b7e8890-6ef2-4f93-9211-dd47d37b0495 CLINVAR:251782 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e3cef116-bd47-4432-862a-dc696d2c2e44 CLINVAR:251784 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen bf7ddac5-0f16-48f2-ab75-1fe9c8454269 CLINVAR:251784 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a72b0ecf-f8c3-42f4-9e25-005c4b73f1f4 CLINVAR:189296 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d389b662-f962-48c9-a145-531ac51cde2f CLINVAR:189296 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bee476d3-0248-4923-9c43-972ba4ed1f37 CLINVAR:200920 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 09656883-e1f6-4202-a782-a54921e2b04e CLINVAR:200920 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a4fd006d-2667-49e2-871b-9b77dc9164b3 CLINVAR:251505 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e1a31924-2215-4b87-81f0-35ee6908065a CLINVAR:251505 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 05c68057-cac2-4f5c-b277-05a33572db94 CLINVAR:441198 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8269077b-be87-4209-b6c4-82934a015984 CLINVAR:441198 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ebab3f25-0ba0-41bc-8bae-f9c379334bfe CLINVAR:441197 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1b8bb1ac-15a4-481d-9b54-0202dae29668 CLINVAR:441197 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 26c9fb86-7dee-40b1-a5d0-6c360393d46b CLINVAR:998053 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 747999c9-df4e-49f3-a8d7-969915a87316 CLINVAR:998053 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b564fe3e-3247-489a-9b36-a8351efab7c4 CLINVAR:200923 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 92a66312-f09d-49d4-91c0-e63373bcb0a6 CLINVAR:200923 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 41fe03bc-a649-40c4-bfce-c7502c83e34e CLINVAR:251102 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen fe11d586-7adf-4b75-b228-4fca214edf98 CLINVAR:251102 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b2ad6c23-196d-43e6-a6e0-896c0dfd7912 CLINVAR:541714 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ecd1caa9-e3dd-4fe6-a631-871959d69c52 CLINVAR:541714 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 296d7bd4-b6ac-40e8-a64c-a2aa72893bd6 CLINVAR:932830 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 793cd182-fb58-46c2-a667-eb3917590d0e CLINVAR:932830 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9653a500-f51b-49fe-ada3-2be79d036c00 CLINVAR:552361 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9e81c91f-e1a4-4971-8ae3-ea2459f859ab CLINVAR:552361 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f2fb73dc-6b55-455d-a97e-c065552e5e74 CLINVAR:541718 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7f9d9cb7-3565-45af-979e-6ee7780b462d CLINVAR:541718 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fee9f8a6-db42-4da8-86c1-af08eefa2a0d CLINVAR:857574 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4403e2aa-9206-49b7-bea2-d6c7f2286a7c CLINVAR:857574 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1715d33b-219e-4153-9153-30a3cff98378 CLINVAR:550796 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d33b682b-2b42-4af4-9e60-699c614a0c35 CLINVAR:550796 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0dd91773-4683-4739-a33e-859e454daa1c CLINVAR:203588 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ecf0f322-c99a-4aa1-873b-dfee356715ec CLINVAR:203588 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6a5ef35a-d860-4c9c-8949-2e3955d88d8c CLINVAR:943198 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 03361d75-e046-4e2d-8869-0be699cf4e6d CLINVAR:943198 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c46f9846-53e2-4df1-87fe-f531046b224a CLINVAR:932733 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c2e929fe-6f42-426e-90f0-89c027fadb2b CLINVAR:932733 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b24cd772-af2a-4436-8c46-934b3618e1ce CLINVAR:569888 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d7877b69-c8ab-4b34-8898-e611d30a67c8 CLINVAR:569888 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dee58ec2-14b8-46d2-b40c-4ed7feb0cb1d CLINVAR:556238 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e9ac1640-0d74-4abd-ab86-876c3e7aec02 CLINVAR:556238 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e28fd8fe-2e75-4dde-82b0-6b8b93b8ad75 CLINVAR:932734 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 89647d6e-8c20-4d78-85fd-420e80de4aba CLINVAR:932734 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b6d91f06-b11c-485d-ad1f-6114754a9667 CLINVAR:189116 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 87df8e2b-9124-40ab-b14e-9cdbdc0c5dd6 CLINVAR:189116 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4972b908-1711-4006-8f5f-cba6d106cb70 CLINVAR:474896 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 837e635b-9343-4f6f-b6c6-b0fe557bc1b1 CLINVAR:474896 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8252fe0e-894e-48a9-9ac7-38e8811480e6 CLINVAR:203594 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c0d08783-ca9d-4a03-ad9c-98502f04f73d CLINVAR:203594 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cde0ca31-60a1-47a6-ba24-7de8268f1c3c CLINVAR:1624 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5b63c9c2-2ad1-4f7a-a5a9-dffb366c4cc9 CLINVAR:1624 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e2635967-0358-45af-82b3-8ebcb9881cb2 CLINVAR:932735 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 995cbb0a-586e-4a5d-92fa-d75250a07afa CLINVAR:932735 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f0bd9897-fad3-4622-ba2c-b02a3d19480f CLINVAR:1074732 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen bfda0fea-271a-4c95-a19e-de0253cbcb5e CLINVAR:1074732 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8aa3d676-302a-4d6a-9456-e35ba06eb167 CLINVAR:951288 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 977da0ec-fa95-402c-9090-1611f6c98dfd CLINVAR:951288 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen db0d789c-0b37-40a0-b357-191170e28fa5 CLINVAR:1676695 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f660eb97-19f0-4cdb-bc5b-3824a896a2af CLINVAR:1676695 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d40b73ad-197f-41e6-b653-194246204c8e CLINVAR:36816 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 08b80d46-2d56-402f-8964-c5353914c446 CLINVAR:36816 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bf9736cc-6ace-4ea3-85c1-d5d70f6b716a CLINVAR:1676696 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8bfda10f-95a3-470b-a7d5-637cec5c3154 CLINVAR:1676696 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3f83b7ae-1384-4e98-b92b-04e421e5a39d CLINVAR:36817 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3bc3c2d4-6aa1-4274-901d-c5f8a040fbdc CLINVAR:36817 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cd5ff684-8ecc-4413-a69e-c9b3dd7a800d CLINVAR:1676697 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 53151c9e-17cb-4a3a-a73c-bd58b52acffc CLINVAR:1676697 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 36800383-274b-463b-9be8-b2052a2535b9 CLINVAR:447486 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c9d77fdb-9749-4ca4-be93-14b6dad4b961 CLINVAR:447486 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 32dc89e5-4afd-42b7-882f-3382b1574fab CAID:CA913203553 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2a824748-82f7-44d3-a2ab-a3e16bbdab04 CAID:CA913203553 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c0c8ed84-e035-423b-958b-0fab29b26f52 CLINVAR:36819 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 50b5203f-128e-44cb-ba00-264cf6cc31ba CLINVAR:36819 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a7b8f7bb-9f07-43f4-9e7b-c333238d8c21 CLINVAR:307458 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 58ffe06e-b459-4192-8227-bf86405030ad CLINVAR:307458 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eb1eed1e-ae6c-4739-a1b8-3df25ec77767 CLINVAR:1676700 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 21883cb6-0ba9-4e9e-85c8-2f7db5319099 CLINVAR:1676700 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e2dc6cbb-cba0-4a0b-9768-cfb2d14ba91b CLINVAR:1676701 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2da33ec5-42b4-44ef-ab0c-a6ea151c6176 CLINVAR:1676701 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 85f5fd44-10d0-4529-8032-4b92ad7e74fa CLINVAR:14942 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3b8e9dfb-7f00-4331-b381-b8db665a855a CLINVAR:14942 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fe30f2c4-8d96-4021-8706-7435eb8f19ba CLINVAR:1676702 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1a889480-e1f8-4e8e-8d60-f7bac97028c6 CLINVAR:1676702 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8f880a64-04f9-434d-922a-acc379f62ad2 CLINVAR:36820 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9a372f21-6eb9-47c6-91a6-9ac3178652ed CLINVAR:36820 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5fa02a1f-6c6d-4b47-8f05-05de6a9d2ff4 CLINVAR:1676703 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen faf36581-c600-4d5c-b7c1-cdff8dbe0b03 CLINVAR:1676703 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b4fcc9e6-1a06-4408-8c86-2faf2257509b CLINVAR:447489 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c7ec22c0-25fa-4f08-8d9e-3cbe7bf93b51 CLINVAR:447489 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1c4d9e98-e3d5-4a31-8304-66e32bca1705 CLINVAR:36821 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7a79c9a0-1663-4a4f-b9c1-f37d1b5d11f8 CLINVAR:36821 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5f23fc22-f5a9-4d83-b388-f0593c7cd7e0 CLINVAR:1676704 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ad8a1e75-8823-42e5-b552-da970d59ca17 CLINVAR:1676704 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a255be83-28fb-4394-97d9-6b074dff677d CLINVAR:447490 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9bc8e5a8-36db-493b-a517-3f619c88bf65 CLINVAR:447490 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3c53aeb0-55e1-499e-8f4c-2d4b8c6bda77 CLINVAR:1317072 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 742e25f2-c9cf-4a62-adea-c974504b6c80 CLINVAR:1317072 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6176c551-f511-43f8-a36b-16ebd0d8a6dc CLINVAR:377965 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d5bdaf83-9d3d-4e45-a389-be88adfed1bb CLINVAR:377965 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 10d21c5b-0c2b-4dbc-80c0-605c9a8eafac CLINVAR:372380 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ad75058d-1d2f-48d0-9b11-43869fae1e46 CLINVAR:372380 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7bce49b6-4462-4027-bec8-14a53502025d CLINVAR:449035 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen dc1314c7-8951-4eca-8627-7a04bf0f9025 CLINVAR:449035 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2e412a38-e770-48e4-a63c-750d07929694 CLINVAR:36824 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f4e85729-5f12-40bd-bfa5-a5600bad7a8e CLINVAR:36824 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 525f3b25-5d4e-40a5-8357-c9c697285b4f CLINVAR:381588 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 958feb64-5113-44da-8aa5-a588d6ef0b96 CLINVAR:381588 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 02fb154f-a52e-4e00-ac5a-d8f2ce551593 CAID:CA386964227 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 28153a6b-632b-48a2-8036-72aedd99db68 CAID:CA386964227 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a9efeaa4-a00c-453a-8836-1ce7476e284e CLINVAR:1338381 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8ffa33c0-c233-4324-b52d-63759e583590 CLINVAR:1338381 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen afae83b1-6fe5-423c-bd28-4ce410cfc341 CLINVAR:129235 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 129a41b7-3ff3-4ffd-8bcb-c8e9115a8fd1 CLINVAR:129235 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 05ac2b59-34a8-4b18-9535-6145ca7236c5 CLINVAR:393434 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 472a9886-9f22-4c04-9e9b-12dbcb8fe343 CLINVAR:393434 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 023e4487-81cc-46b9-a257-58e37b6025df CLINVAR:36825 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5aa10179-00c0-4b94-b2db-60e2ae222594 CLINVAR:36825 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f2274b2c-544a-412b-bca7-9dc17b4e717f CLINVAR:435428 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen caaf6d01-77b2-4394-8332-db5c94762a35 CLINVAR:435428 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8fb698bb-9380-4db4-9172-ef6ca4053fb8 CLINVAR:379904 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen df7b50e5-41ec-4267-b10a-b45ad84bc16d CLINVAR:379904 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5f0152b2-ccab-4c23-bbea-9752eeb70d30 CAID:CA386965177 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e8380a9a-2197-4207-bff8-fb9fe2f60f91 CAID:CA386965177 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6018de63-b1e6-4bea-b5ad-76e235f77186 CLINVAR:393456 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3b1e4b9f-f28e-4579-bd33-558dbc76cb00 CLINVAR:393456 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4973385f-2deb-489d-9aaf-57a76a5b9278 CAID:CA913203569 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen cc4d9b3b-6b48-491d-b8cf-2243de76948a CAID:CA913203569 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 61895026-26c9-48a1-87ac-5a5ca0560b6f CLINVAR:447497 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b2e7d727-fda8-4659-8a20-7a487d9ce815 CLINVAR:447497 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ada9974a-06fa-4252-a91c-c5624ee47c8e CLINVAR:1676710 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d0b537dd-f97f-4aa3-8021-be73b4e74aba CLINVAR:1676710 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7a76f1a5-eb7d-4663-877f-47f85822a80b CLINVAR:1676711 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9f498ff2-0301-45fe-b1cc-32270623af10 CLINVAR:1676711 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6b3f346a-cbb3-4532-a075-3c49d54e455d CLINVAR:452526 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 005399ad-14d1-4c7b-ab06-7acbf17148a2 CLINVAR:452526 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 82896465-4150-4719-af5d-f38afc6cc314 CLINVAR:36828 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e71eef05-f0ca-407c-8e2e-cb28ac5661f1 CLINVAR:36828 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 04ffc49a-cf5c-448f-a63f-0e04c1ffe82d CLINVAR:1676713 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1cb6a052-5b4e-43d4-aa08-849592868dbb CLINVAR:1676713 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fb6d3424-f836-4b09-a27d-d256efaf125e CLINVAR:838654 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 17309f94-0903-49d6-b555-056e2f50b2c0 CLINVAR:838654 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4e3f0218-3379-4fa8-b69b-c635024f5123 CLINVAR:203575 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c392a217-becc-46b4-9af6-e7c13816916c CLINVAR:203575 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e7059ee2-d879-4164-9665-3f8ee88b3157 CLINVAR:1676714 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1e19994a-ccbd-4bb7-9c89-0ac68e8ecd1f CLINVAR:1676714 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 58f99a9a-dd8d-49c1-bcda-cb47402f055a CLINVAR:1526008 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6c32283b-0d73-4af0-979d-a8fac6249a6a CLINVAR:1526008 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b70aa30e-3ce9-4c34-b778-2300d69c041e CAID:CA915940438 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 007340b5-f2c8-4a72-9d8b-2703d1922fa6 CAID:CA915940438 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2d812edf-5923-4080-9dac-4c01989f2ecc CLINVAR:1676716 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f18f2983-6118-4313-b78c-6bdca26f8868 CLINVAR:1676716 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e8dc6529-726d-4858-9e8e-72de9816b387 CLINVAR:447498 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2377f856-4d8e-465f-aedb-013c2cc9b836 CLINVAR:447498 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d2b15ab0-2a85-4cb1-905f-25d5c7e8bfaf CLINVAR:1676717 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1ea70707-ce86-446a-968e-e354b7d0c345 CLINVAR:1676717 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cfa0cbd7-9962-4982-8acc-a9bd02017ce0 CLINVAR:998237 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 545aee23-6bb9-4b41-b2e5-b02424aa8cc8 CLINVAR:998237 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 61fccb8d-3032-4792-8c3b-d02b2ddbb8bb CLINVAR:265436 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 64e49eea-01fc-40a5-9e4a-86e093f32845 CLINVAR:265436 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2a8b8634-3d58-4a28-824e-f8ea62129c32 CLINVAR:562367 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9345195f-d6aa-47f7-9871-f8b0a86dafe3 CLINVAR:562367 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen faf80dda-68d3-4619-bcf7-baee433fa7d1 CLINVAR:379138 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 278e1062-c1a6-48e2-af86-949e2993c8b6 CLINVAR:379138 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fcda430f-69e1-40fe-8e2e-1ee98ecb7c49 CAID:CA386966158 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4b75eba4-7162-4930-a143-abd81b28335b CAID:CA386966158 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 936d6adb-b61c-47ac-8499-21743ee3f236 CLINVAR:36830 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen bc0731cd-42ae-447a-958e-d355168dce64 CLINVAR:36830 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen de6b84c8-adc8-4c16-b18f-18e17c25250f CLINVAR:1338730 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f880cdcb-35cb-4ff2-9a72-41342ecf5927 CLINVAR:1338730 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5f45c986-1dc1-4697-bb4e-b8c101ce8f21 CLINVAR:265193 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 44486b52-5357-42b1-9a4b-90fb3ecbdf4d CLINVAR:265193 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7970e09b-d2c4-49b0-8e14-7928e51c7ca9 CLINVAR:447504 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5573fba8-bc18-42fe-a9c5-1c0a25453d58 CLINVAR:447504 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 503f0f51-aa07-4985-9851-36a285c93b34 CAID:CA916079828 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8ea8ef62-a66a-435d-a87a-6e3f37bc4855 CAID:CA916079828 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ff9da08b-93bb-489b-a10c-0aa80feaee67 CLINVAR:1315612 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f6242b6c-507d-41f5-8414-9480ec6dfeec CLINVAR:1315612 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e29848ed-60c5-4398-9d2f-284415e4cc80 CLINVAR:1676721 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0ce92824-7ad9-4867-b593-512775c164b1 CLINVAR:1676721 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen efc59c5a-9270-4bf0-9227-920c699715d6 CLINVAR:972753 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f1947c1f-5b0b-4ef0-8034-618f0d0b4d73 CLINVAR:972753 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1eb8a0e0-a0da-4ab8-9f83-84f780d9b0bb CLINVAR:14927 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 22ee2a6c-92cb-4ddb-8b07-11977012f31a CLINVAR:14927 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a48bc59d-b481-4392-a7f2-2b679f27d903 CLINVAR:447503 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2a90162f-e178-4ccd-95d4-f4caef0d08c7 CLINVAR:447503 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 47ed235d-a001-4ae5-87ea-7d0a990e5522 CAID:CA386966358 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 77e0a302-9313-41b3-a0b2-dc77dfcc07fe CAID:CA386966358 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c29bae72-02eb-4577-aa15-46f38419b536 CLINVAR:449403 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4cfbde16-eaa0-4d1b-a914-ba5315c1b044 CLINVAR:449403 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e6b00aeb-dc5a-4220-9da5-b05f7c3f9109 CLINVAR:447501 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4b722550-d433-4084-bed9-4c0459a7b73e CLINVAR:447501 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 882bb1b9-1d1d-4108-a2ac-de5d7de321b4 CLINVAR:447494 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 87051839-4c9f-44c8-881d-743930d5569d CLINVAR:447494 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5d29de81-7b24-486d-80b7-7c340f460569 CLINVAR:1687075 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3a639550-43d4-4e45-93de-8cf7463744d4 CLINVAR:1687075 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f82c0bb6-c70b-427e-8590-4ee53497c810 CAID:CA916084342 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1e88bc42-b748-4a5d-9407-130323d4124c CAID:CA916084342 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fefbca78-c012-4c4d-9536-081bbf117120 CLINVAR:102631 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3296f8f5-2e47-483c-aaef-7247d7ecc8fc CLINVAR:102631 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fbba2c20-b5b4-49ba-86a3-cfa933fd59af CLINVAR:102599 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f98e5ad5-6131-47a2-8c8b-4bb99963d35c CLINVAR:102599 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e5d746b8-63c4-43af-9867-0a0a2beceae9 CLINVAR:102863 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9893951f-a074-4bd4-b340-dc1754e82811 CLINVAR:102863 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen acf116f6-5577-4456-91f4-7bed7c02095c CLINVAR:102836 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1d264e68-bfe1-4c13-9d8b-bcf263bbd4f5 CLINVAR:102836 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 41ebb268-7ff8-4d7a-b8ad-f12daf92ae8c CAID:CA16020858 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 821fbbcc-4811-4542-96a4-a8c739a4c5ea CAID:CA16020858 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 558d9a94-16f9-4cd6-8c2c-f2e3461da4a3 CLINVAR:102835 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6b36ddeb-8bf7-4f5e-98d6-b1dd8d2250e7 CLINVAR:102835 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 35afa686-286d-4cbf-ac5f-a558c5df90e5 CLINVAR:102651 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3df3759d-6a41-4cd3-bfe9-061b7f581f70 CLINVAR:102651 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a2b5f5b2-0251-4c38-8fe9-69726ec970f7 CLINVAR:624 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5e4f1741-ee27-49bb-badd-58e109a6c71b CLINVAR:624 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 01f5658e-bb88-498f-b7e4-f75d2eaf2381 CAID:CA16020834 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9f8f2e2e-f0d4-4814-8360-914684342f09 CAID:CA16020834 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b0d240e9-8a42-438c-aad2-0c8ee0de7e7f CAID:CA16020917 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 45ab0c76-a7ae-42d4-812e-43eef9d66dc0 CAID:CA16020917 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 899fdccd-f907-46fb-852b-fdc0bbd41613 CLINVAR:430837 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9cc5adfa-216f-483e-a88b-c8b3ba51df3b CLINVAR:430837 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fc43a288-bce1-44fc-a0f1-8c3106e25cd6 CLINVAR:134513 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f266c070-7976-4eaf-97eb-62dcf543eb97 CLINVAR:134513 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f8f507e5-c53e-4245-a85e-e8219d292ab0 CLINVAR:447484 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9bf19e89-8d6f-442a-a166-e77f8bbd9745 CLINVAR:447484 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 691417ab-5fe6-4fd7-9d05-8a61d308161f CLINVAR:1687067 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5ebff66c-b57f-4df5-869f-a478cae16efc CLINVAR:1687067 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 20e84a92-d206-4495-8274-1bd6341cc4cc CLINVAR:1687068 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7d8d0ee8-dd70-45e8-81df-940d25c38f15 CLINVAR:1687068 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9ff21d70-b65e-438f-ad61-6cc0217737a6 CLINVAR:1687074 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6221009e-d62e-4060-a271-20403d4ce7c3 CLINVAR:1687074 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e7aec503-76e9-403b-a761-80b639d69b60 CLINVAR:1687070 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5e7fcd3b-abe7-4d99-9587-f66161f61169 CLINVAR:1687070 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ecc33ce4-37c6-413c-921b-b47a81f86cf7 CLINVAR:1687071 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6b82bbde-0071-46ed-a722-c49879a55645 CLINVAR:1687071 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2e202819-3a31-426b-a4a7-bddf1eac58f4 CLINVAR:1687072 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 563c4c0e-3826-4982-b737-6bc2b7a32f57 CLINVAR:1687072 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3950ebe4-74b6-422e-b881-f3b0c5b16931 CAID:CA386958695 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen dfd191a7-cdcf-4558-bc9d-5672ab8ec673 CAID:CA386958695 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fe8ce92a-8ae6-40a6-b414-f3fb3ee63fe8 CLINVAR:447500 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 14675b60-88c2-4729-bdb7-8a38656f8b40 CLINVAR:447500 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5a40131b-2bd4-40fb-a22b-117b580ec70a CLINVAR:14945 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7472c5f9-ab23-44cf-ac83-fcb38d389a72 CLINVAR:14945 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 44e7e46c-e6cb-40e9-9a38-52e3e46779d0 CLINVAR:1687076 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1bb4ef61-37a1-4c38-a8a2-d2f4774cccdd CLINVAR:1687076 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c48ee644-d816-45bc-9d24-d17e94cc295d CLINVAR:252220 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1f2a5331-1d11-48c9-b910-6f48d8f08fac CLINVAR:252220 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d3d5b09a-9ab8-4306-9ab4-69d41be2d404 CLINVAR:252221 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b070ba7e-5287-404d-9b61-fc5e85cca001 CLINVAR:252221 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e813d410-9535-43f8-a93c-71770fe7cf4d CLINVAR:36823 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6b375538-dd24-4ae0-bc69-cd317e620a1c CLINVAR:36823 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dc9f664f-15da-4555-b4cf-d9943cee51f4 CLINVAR:134509 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7b1e357f-8431-4686-9edc-5b80973392e6 CLINVAR:134509 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ad7bf6fb-974c-4b59-83e5-26d5684b5bce CLINVAR:918071 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9199468f-301f-4758-b2ef-36568bec6bfb CLINVAR:918071 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bebaceb4-535c-4939-a46d-61c0cb5baad5 CLINVAR:843407 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9e3ced15-07c8-4a4a-aafa-1f8673af9c0f CLINVAR:843407 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 276003f0-eac5-4edc-a301-656bff8ffce8 CLINVAR:251435 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 71da83e9-3744-4111-ae78-4cd09da1f093 CLINVAR:251435 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 98abb6b9-0295-4a88-b81d-42cf6fc7cf99 CLINVAR:226351 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 67f41e8e-5e8a-47e9-9164-48896386fcba CLINVAR:226351 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 51b60b54-8c5c-4d80-984a-3025f5abcb76 CLINVAR:226352 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c876f26d-ca56-4ea1-8f9c-cad3f0115722 CLINVAR:226352 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 44c57dea-44c2-4080-9bf9-f5f071f2f69e CLINVAR:250966 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3efe60d0-1d71-41c9-9f96-8e56eecd958c CLINVAR:250966 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8bc1c74f-270f-4689-880c-dd826fade18d CLINVAR:250967 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5a6f76be-0d31-40a7-839c-b1506105d85d CLINVAR:250967 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ecd1ea5b-4dc4-4998-920c-57a2293929be CLINVAR:441174 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen dadaffc0-d8e1-47d2-974b-879c11fbfbb4 CLINVAR:441174 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3df8cb18-9695-450b-ae3f-ea8509e97f5f CLINVAR:440536 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 06eaf7d2-7104-4ce6-bf6c-fbaf6b5b98b1 CLINVAR:440536 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a34dd4f4-ec6f-43c2-8e3c-79b9d90bacd1 CLINVAR:250969 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 829a4e8c-6216-4de7-9b59-2ce04eb560bf CLINVAR:250969 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d835d4c1-de33-4c65-acce-60b77e66bb91 CLINVAR:3739 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ac4ea9b9-0110-400c-a341-8c320b172af4 CLINVAR:3739 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 987431d1-ceb4-478d-9ed0-268e7a836c5e CLINVAR:1687077 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen cc7d322f-601b-44e4-8ef5-cd6b3e45c6ae CLINVAR:1687077 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d2768c4b-639d-44c9-95ff-9667879caef1 CLINVAR:14935 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b243918f-960f-4b59-bd1f-d428dc74514a CLINVAR:14935 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 74085a2d-d743-4f8a-8982-bc6436adf51e CLINVAR:920048 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 987f9e5d-f31e-425b-a79d-ec63f2dc60ad CLINVAR:920048 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 11278ea4-e442-489c-ba4c-628abd853fe8 CLINVAR:251580 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen df262634-b3f3-483b-9b89-dcad5cc3372a CLINVAR:251580 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ce9dadef-17ee-44fa-a36c-4727e42a3ad6 CLINVAR:440663 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9b5843d6-da6b-4bae-91ac-33ef426d66c9 CLINVAR:440663 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ef69ad55-a91f-4291-b1f5-570cee17f3e8 CLINVAR:252084 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3450e384-06f4-4d65-90e5-bc99b52e55cd CLINVAR:252084 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 30ab771a-9fcd-446b-9eed-0b29f5804189 CLINVAR:252085 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1ed6b117-12f1-4a87-a178-0115e81e4187 CLINVAR:252085 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 299f2eac-7774-4b47-8639-9c6512064dfb CLINVAR:250957 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4553e892-7d71-4147-8c7b-66738e34a322 CLINVAR:250957 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ee9c3b48-a290-4759-a6ce-0d07a7b86431 CLINVAR:251508 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c1d4d646-14a9-4ffc-824b-567906b981e3 CLINVAR:251508 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c31f8983-6e77-45fc-82cd-973f91524687 CLINVAR:251507 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 56f5cec9-3241-446e-b7fc-9bc14ad24729 CLINVAR:251507 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 37219542-a5e7-4c81-a781-43ce6b71a8a3 CLINVAR:36459 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 17c534e7-8faf-41bf-97c5-53b3332bc62b CLINVAR:36459 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 30e72a55-9ea7-41d7-9757-9a22c4952f13 CLINVAR:252224 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a8f5d992-cdba-4af6-8dae-246ec2d01df4 CLINVAR:252224 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen da47557c-7d51-4f00-950b-745942d9c335 CLINVAR:250933 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6f9314c7-7a36-4fd3-84ca-2998b34b823e CLINVAR:250933 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fee7acff-4a7b-437e-b6f7-1080f6e1469c CLINVAR:251611 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 90a55bfd-cfd0-4f0a-b4bd-147ca27e20b2 CLINVAR:251611 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 70a88e97-a3a6-419e-a7e9-7ed13cdca897 CLINVAR:226342 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f7cc2e33-5fd8-485d-9a6c-92b936403bf5 CLINVAR:226342 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 23fabb5f-da55-4717-b8f7-dea52c6eb264 CLINVAR:440627 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 87a39af2-5b64-4e5b-95f7-58d6bd4bfa3a CLINVAR:440627 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0c0bccb9-c44c-45ee-b71d-1768df0e4058 CLINVAR:251693 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a5959fca-e67e-419b-99be-515d5350748d CLINVAR:251693 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 025e0b4a-2bef-4735-8b21-1cfd145d822c CAID:CA397722480 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 59090dd3-0bd3-4731-a190-a3189b344b83 CAID:CA397722480 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7f741ae0-1abf-4eda-b43d-bbdc0262ee4b CLINVAR:648624 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e3fb2759-0b47-47f3-8af3-64c85c0d8a8c CLINVAR:648624 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fcb12759-e3cd-45a4-8fde-45f38e47bb19 CLINVAR:181279 biolink:genetically_associated_with MONDO:0005021 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b17623ca-784a-4c07-b5d9-dffcefbca140 CLINVAR:181279 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 02222596-5dc8-4a90-8e2c-d84bcb9dd61e CLINVAR:181390 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 05b5e15e-6e17-4f73-a075-b1f3de86ad82 CLINVAR:181390 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7a0d3ba8-c261-44c1-8449-7aaf3b0d8e2b CLINVAR:43095 biolink:associated_with_increased_likelihood_of MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e8210176-404d-4a03-8fd8-c26619e78890 CLINVAR:43095 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 03a2fb3a-a3d5-48ed-9d95-68a006d4ccdf CLINVAR:953854 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b1f9dc43-ff8b-466f-8ae2-4d06ce9d73f3 CLINVAR:953854 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a2a3038e-763b-48aa-9ca3-415d9f7c4324 CLINVAR:932736 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9fd63f69-97bf-4894-8215-36523b69be1d CLINVAR:932736 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d6428822-4254-40fc-9eba-33807f0b3030 CLINVAR:250970 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3ce98c4a-03f7-49da-9bd2-0bc488ed54bf CLINVAR:250970 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5dfdcfd5-38d7-4515-b71b-b606e9746e90 CLINVAR:251309 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 47b68717-0449-4d83-8e56-488bc9ea7f8c CLINVAR:251309 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4cc3f3cb-0a45-4db5-9255-84f7f650dc44 CLINVAR:3683 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f920f49b-05a7-4705-801c-9e09bdcaf9f9 CLINVAR:3683 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5cf3a267-d3fb-40e8-8d65-ae42cf1686e7 CLINVAR:3691 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e37e2275-05c9-4229-92bb-ebc9527452d6 CLINVAR:3691 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ca7f4b13-7db0-48a9-9297-c7d11be50260 CLINVAR:226333 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5c1d8e8d-0b26-4541-b92a-29a359e90ea6 CLINVAR:226333 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 421b11dc-1900-42d2-90a0-b15f5bf3071b CLINVAR:251421 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen af6a5efc-5441-442f-a00c-ee085b822600 CLINVAR:251421 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9259a57e-9dc8-4f1c-8dcd-93d383342fc8 CLINVAR:440613 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 81631ccb-e7fe-48b7-99fd-d8ccfaf161bb CLINVAR:440613 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 66328ee2-2492-4945-b231-3caf2213bfb3 CAID:CA386972260 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 60c223fd-9bc3-4236-92bf-6b383e29e3a3 CAID:CA386972260 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b4d68ae1-5ada-4645-9d0c-fb80abf75b1f CLINVAR:256597 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ad4cbcb9-7a9b-4909-b05e-e8257fc05d42 CLINVAR:256597 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 16b1be89-8de1-48a9-8cd7-f503402dbf90 CLINVAR:36829 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 178490f4-2338-4be4-a983-a2e97a5e563e CLINVAR:36829 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1d514a98-c4dd-4b82-bd9a-5f48296cffbf CLINVAR:1338571 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen bf916c37-11f8-4f8a-9909-a03100916b88 CLINVAR:1338571 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2e514e17-1cff-474f-8177-4b631afa9428 CLINVAR:36832 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 808436b4-cf62-4a7b-849d-9b05fb6fb08d CLINVAR:36832 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6c270bb7-adcf-4d5c-b80b-5f9714e53463 CAID:CA386970411 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7fbc78e3-adab-49aa-9ada-1d16aeffbd1f CAID:CA386970411 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 88b31f34-edc9-486d-b9b3-54aee1babe33 CLINVAR:36803 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen dc51a90e-7f3e-4bb8-8fe8-1795cc9913ab CLINVAR:36803 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 235a6939-4591-4cb9-b2a2-8b5a2264547e CLINVAR:256598 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 29d4c83c-5b5c-4404-8d4b-b7b0406c4e7b CLINVAR:256598 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7172e1d8-f670-4ba7-9954-c7a69f209f91 CAID:CA2573051033 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9cada25a-95bd-4157-850f-bc9f143e0d03 CAID:CA2573051033 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 71a0be55-8178-4f42-9a53-df18a9f36ff4 CLINVAR:307462 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 47820a2a-b570-437e-9fc4-2b27287f6a80 CLINVAR:307462 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7290d0ab-9343-4ddd-b725-eeb39fa98d9c CLINVAR:36812 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1c1070b3-51e5-4136-93e3-9d193a0e2f45 CLINVAR:36812 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 482895bf-75c9-4788-beee-e787af7832a3 CLINVAR:1687082 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 213c9325-dc1c-4c18-b110-c7a788dcc34f CLINVAR:1687082 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen deca7406-d07b-4c9d-93b4-ed55eb125503 CLINVAR:1687083 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1f9f10f0-39c2-4638-8c30-ef75d7b465c9 CLINVAR:1687083 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a955ee42-c99e-4af3-bc9a-989c3c5935fe CLINVAR:438709 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1cf67b96-f8ac-4113-a4f4-d16854cee08a CLINVAR:438709 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a5463d89-3d60-42ef-bfc5-47fe79882da9 CLINVAR:1687084 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 86ac49bc-5a64-4308-a6ab-2c1483bb4674 CLINVAR:1687084 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4e413dde-a2bf-48e7-b48a-dded0b587fd4 CLINVAR:134507 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 75c712cf-9f65-40a7-b376-96f0c4c3b881 CLINVAR:134507 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e3d6956a-1674-4258-a76a-241f262f5849 CLINVAR:1687085 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f401d8fa-e1ed-4a27-b40a-10413d55244c CLINVAR:1687085 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9871fcd7-fc0f-4360-8141-11f8095f97df CAID:CA2573051045 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen fc507cdc-d5f6-4e84-96fb-99d888d33aa6 CAID:CA2573051045 biolink:is_sequence_variant_of HGNC:25719 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2e19d05d-c2e3-4874-ba30-bd073b68a634 CLINVAR:1687087 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f70281ca-4aa5-44a5-8036-fab0662576cd CLINVAR:1687087 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 665ddf46-78dc-4c3a-ac9d-134479bba691 CLINVAR:307474 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 772fdbcb-7f58-4347-864f-caa77d58ccdf CLINVAR:307474 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4158a0bc-158b-46f3-8977-2ad600bc589e CLINVAR:376917 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen bc4b502f-c037-4a80-82f1-682cffcd05e9 CLINVAR:376917 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 72eb9ba3-185a-4a22-b36f-939367a84a20 CLINVAR:371068 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3898da8b-1f18-4e02-8ca5-7affec4c8590 CLINVAR:371068 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0166f00e-c6c4-463c-baca-ba4427dc9375 CLINVAR:373614 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 091bdb70-e7d2-4deb-905d-2641f370046a CLINVAR:373614 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 69452ce8-8d8f-48e2-9a64-52eb8f6e5e58 CLINVAR:929167 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 40c381d2-7cfd-47dc-a2c6-13adf8e6a4bd CLINVAR:929167 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3e5263b1-ecbe-47db-8e2c-705a4e2200b5 CLINVAR:4025 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 54e20085-297d-4e0c-b0f2-a468701641aa CLINVAR:4025 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1c14035d-1cba-48ef-be9b-288d8220733c CLINVAR:1693548 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 51960e49-08bf-4348-ab33-d41bf32a9e50 CLINVAR:1693548 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5e611eaf-ce13-48de-8c6e-111b38d748fc CLINVAR:180144 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f9c76052-a426-46da-ac17-13dd6fb64c3a CLINVAR:180144 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ad078d37-5e27-4782-a1b5-9898161a3121 CLINVAR:430167 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen be433bfc-1cff-4652-97a2-bd232cd56dc4 CLINVAR:430167 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 391b197d-c9d4-4c24-ae67-9ec23851ae9c CLINVAR:307467 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9f97d3d1-ea0d-4aed-b1d3-45de0ffcf173 CLINVAR:307467 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8130ed48-4df8-4a7b-9c1f-24fe658ae887 CLINVAR:48256 biolink:associated_with_increased_likelihood_of MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 92bdbd53-06d9-42d0-9e3b-a26a210028b5 CLINVAR:48256 biolink:is_sequence_variant_of HGNC:8515 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5cc9d4f6-c831-472e-8bcf-856826a524bd CLINVAR:6137 biolink:causes MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 294510d1-9f08-4884-971c-cd1a2841ee3f CLINVAR:6137 biolink:is_sequence_variant_of HGNC:8515 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 19bc93eb-5734-4567-978d-846082bb0a1c CLINVAR:21831 biolink:causes MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2e6e6593-5091-4298-8b85-7227f0790645 CLINVAR:21831 biolink:is_sequence_variant_of HGNC:8515 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 546c235c-c2f5-404c-9596-b1598561922c CLINVAR:48253 biolink:causes MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3a638a00-c950-4d5a-82d3-c91845ca0101 CLINVAR:48253 biolink:is_sequence_variant_of HGNC:8515 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 088f7fbc-d9f9-4f4b-a280-1b92faf35545 CLINVAR:897955 biolink:genetically_associated_with MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 69964847-b31e-4d7f-a511-42c17957280b CLINVAR:897955 biolink:is_sequence_variant_of HGNC:8515 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a3b9ba68-f240-45f0-bd40-b88a2029f6f5 CLINVAR:48235 biolink:genetically_associated_with MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7472663e-0118-49e5-85dd-5fe2362a30ab CLINVAR:48235 biolink:is_sequence_variant_of HGNC:8515 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7de46a9f-65b8-436e-af7b-6797d2b8bc3a CLINVAR:500061 biolink:associated_with_increased_likelihood_of MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4244d82d-3996-40db-8574-3299d8f21fee CLINVAR:500061 biolink:is_sequence_variant_of HGNC:7594 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 55e8ac9d-5713-4886-a8f5-1e8e4dadf3c8 CLINVAR:666995 biolink:associated_with_increased_likelihood_of MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4d01eb3e-6f61-44b1-bca1-5594ed98607a CLINVAR:666995 biolink:is_sequence_variant_of HGNC:7594 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dbf2474f-f48e-42d1-b7e1-53f338fc6879 CLINVAR:505185 biolink:causes MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1fe67f40-c140-43c6-bc3f-7bb62c149dcb CLINVAR:505185 biolink:is_sequence_variant_of HGNC:7594 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3c884a11-4375-4268-a2de-0925a7fba114 CLINVAR:930033 biolink:causes MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e88cbcb7-e5ac-4ef8-a776-8d868d5d0c13 CLINVAR:930033 biolink:is_sequence_variant_of HGNC:7594 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b6071df7-adad-47e0-b1fa-41e4c7a2cf3d CLINVAR:632271 biolink:causes MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2526f736-9015-4fba-b387-091d8cfd90ec CLINVAR:632271 biolink:is_sequence_variant_of HGNC:7594 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 605e8eb5-1ca3-4a7d-8fda-6f9f57956ab1 CLINVAR:623347 biolink:causes MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c5e8613f-e017-486a-834a-56a6ad95d362 CLINVAR:623347 biolink:is_sequence_variant_of HGNC:7594 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 900dc92d-2a32-43be-ae2d-254f83b161b6 CLINVAR:449526 biolink:causes MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d49df3c7-68c8-4771-b38b-9edac39de0b8 CLINVAR:449526 biolink:is_sequence_variant_of HGNC:7594 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5e2812f1-15d3-40af-8143-99fd23b74f01 CLINVAR:6950 biolink:associated_with_increased_likelihood_of MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 34bb3fc4-d0a8-4180-9cdb-ff16f88b9cf9 CLINVAR:6950 biolink:is_sequence_variant_of HGNC:7594 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 62bfdf68-bf3b-4938-aac0-82ea7df0de6e CLINVAR:1693547 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen fd549006-5f41-49d0-9a45-0dbfc5e0d280 CLINVAR:1693547 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c51ba000-0931-4e8f-b7ea-babca451d170 CAID:CA658795287 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen eb6d1629-34cd-4950-a230-aa4b1b446ce7 CAID:CA658795287 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9e3fa4f1-dcb9-4efb-9034-e39e8d77612b CLINVAR:370277 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0d4ee146-d397-4206-b9c3-c3e540ccec0e CLINVAR:370277 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 78b5faff-cb2f-4bf6-abd6-2f815d0432d9 CLINVAR:1686781 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a3ed5573-88c0-49ff-bb4b-7c606eacaaf0 CLINVAR:1686781 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f5397d24-f229-4d5c-a6d7-ca5b4168fc1d CLINVAR:1686788 biolink:associated_with_increased_likelihood_of MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen dc0df39f-ffbe-4749-88b9-08bf68b29b13 CLINVAR:1686788 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 29518c6a-1ca9-41da-bfbc-ef519d58a8ac CLINVAR:7952 biolink:causes MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2a9b88f1-4eb6-402d-bc32-e01f96c52cfa CLINVAR:7952 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 30f1cebe-f6e3-4394-942b-5e8a8008ad6c CLINVAR:1686795 biolink:associated_with_increased_likelihood_of MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a548304b-1b20-49fc-af17-9a11183b13a2 CLINVAR:1686795 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a13630a4-2aac-4979-ab2a-4e61d201ced0 CLINVAR:1686796 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b1f4c7b0-e3a9-41ca-860a-74efb1ee8cd0 CLINVAR:1686796 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 665350ec-7df7-48dc-a5f9-94739705c61b CLINVAR:1686797 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0b982b67-40e3-4721-bf63-a085713cfba0 CLINVAR:1686797 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 88576fcb-fdf3-49d2-b846-4d01fbb5bd0b CLINVAR:7954 biolink:causes MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 157935db-51c1-4108-839e-5f1767a4ae94 CLINVAR:7954 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e962605c-a7b7-4b04-bd6e-7e71a4b3610c CLINVAR:1686782 biolink:associated_with_increased_likelihood_of MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6af9be24-e937-4d51-b4e6-bac90cfec3f0 CLINVAR:1686782 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2d0ff395-48fe-4932-b87d-b354d056e952 CLINVAR:1686783 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0502b0e1-8199-4e1b-8d55-9e007f59309e CLINVAR:1686783 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 699ff5cc-ea30-44ca-b09a-67361089d566 CLINVAR:7956 biolink:causes MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen eb297a1e-f070-457d-887d-fc165181a4eb CLINVAR:7956 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9a1f0a5e-fd8c-4e4e-b8c9-e94a1bcecf37 CLINVAR:1686784 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b7a8b621-bdde-4299-8cb6-03aef39c83a5 CLINVAR:1686784 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3dd57f47-c3e7-405e-8828-e1cb848b024f CLINVAR:30205 biolink:associated_with_increased_likelihood_of MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b11d5929-de81-4980-ab19-316d94286dc7 CLINVAR:30205 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b6dfa88e-2551-4ade-ae99-c0f247596ff5 CLINVAR:7950 biolink:associated_with_increased_likelihood_of MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ba7ce890-ec13-413b-9bc9-fa741088978f CLINVAR:7950 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4c3b1de5-a036-4cf2-bea6-59ce2e689518 CLINVAR:7951 biolink:causes MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 70852a9e-0efa-46ab-bb18-84a978c0451a CLINVAR:7951 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7f0c23f0-b75e-4779-959c-314d17fedd31 CLINVAR:1686785 biolink:causes MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3efc8242-3323-4dd4-8eab-b1540505c061 CLINVAR:1686785 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 52076819-8b10-4ce0-bb59-a08ad10ea7a0 CLINVAR:1686786 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3c454e30-9d18-403b-984f-3ee43ac9f6dc CLINVAR:1686786 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3ed2b078-2e8b-4dd8-954a-7711b54224c5 CLINVAR:1686787 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e1185cd8-3243-4dd3-a7b9-049b625fd1ed CLINVAR:1686787 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b74923df-9c34-4935-960f-604f7168c67f CLINVAR:1686789 biolink:associated_with_increased_likelihood_of MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ce3598dd-2ad9-46c8-94b8-888240426355 CLINVAR:1686789 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2fec45ca-af95-4709-be06-580174716e89 CLINVAR:1686790 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen da68e3ec-2b76-4584-8e6f-d3a35eff6f9d CLINVAR:1686790 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0c563a90-a2f2-4ec9-bf82-8c3a06180a7c CLINVAR:1686791 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 20ffae29-6176-423f-862c-dcfcb2e9c2fe CLINVAR:1686791 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4db26043-9b6e-41d6-bd67-d813f6a96f46 CLINVAR:1686792 biolink:associated_with_increased_likelihood_of MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 370790d8-afc8-4488-acc9-8c2acc0776e8 CLINVAR:1686792 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 15f5ab51-996d-417e-af9f-af829df3e329 CLINVAR:1686793 biolink:associated_with_increased_likelihood_of MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5393736b-7774-400a-8d95-5ef5df57e8f1 CLINVAR:1686793 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 10ee7491-cf12-4b5c-aa0a-3647f1bf1160 CLINVAR:1686794 biolink:associated_with_increased_likelihood_of MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 40bdefe7-e722-478b-a38c-e4defcb586cc CLINVAR:1686794 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ae20b0cf-70e0-4f6f-97d4-02234d2df0f5 CLINVAR:917405 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b84a2493-0f09-4d48-a9d0-378763912273 CLINVAR:917405 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dd20fb82-5591-44c6-a757-fda25b5ce46a CLINVAR:871739 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7f6859fd-b179-4659-8d81-bf12fb0d1142 CLINVAR:871739 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0fac69f4-f012-4098-9e95-650f5575cc16 CLINVAR:1693221 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d03330e5-b4e2-4792-95dd-904d622c2dd4 CLINVAR:1693221 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7fdf1341-a8c4-4aea-beaa-b5ca596a5ee4 CLINVAR:420102 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4bc21e09-6042-46b0-92aa-1ae929fd7056 CLINVAR:420102 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7d9fc504-489f-4af3-b7a4-ba1fc5ef12b3 CLINVAR:419722 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 69c4cc6b-5033-46d2-9bf5-fc74fcb7ff9e CLINVAR:419722 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a664e152-d117-43a4-8b60-8322c64ab753 CLINVAR:1693551 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6939c254-0143-450e-910a-9f32487d5d80 CLINVAR:1693551 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 99d423a7-a7e0-4fda-a5b3-b95a9f522e5e CLINVAR:1072906 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 33bcdce4-a516-44ed-ae8e-56767e8cdaf9 CLINVAR:1072906 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4ab25c2c-a20a-4125-9a45-c0115fc6aec0 CLINVAR:371305 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2d72cfec-3583-4e09-b2ca-a68e6603cca6 CLINVAR:371305 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a373ad0e-138c-4763-99ec-d7a8497275a5 CLINVAR:403712 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9ab0500e-ca12-40d0-adc2-e4f43bc4fdea CLINVAR:403712 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 15a221f5-30aa-4440-b001-bd92ffe9cdfa CAID:CA658795264 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a1dc2737-6719-4796-b041-b802343a20c7 CAID:CA658795264 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 83541492-1dfb-4df5-b900-dc930937a485 CLINVAR:934787 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen de9e8b2f-19c5-40a4-8d53-e2f04e247335 CLINVAR:934787 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2c72df2b-537e-46f4-a901-057b84d0f05f CLINVAR:102819 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b94bc65f-d00b-4147-9022-4fbf93ea2a71 CLINVAR:102819 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 775e8d03-ccab-43c4-babd-63fc389d626e CLINVAR:280984 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 11edc4df-7c45-423b-b758-558c1f0b8610 CLINVAR:280984 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c95a6bdd-1642-45ae-893f-775d83bae937 CAID:CA386954977 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a514c601-eedd-41ae-ba59-1f3d36c585ec CAID:CA386954977 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 55cef50a-0ab9-4620-80c7-0d9994434e7d CLINVAR:1338520 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d4ed35bb-91e8-499a-aa11-09b52055d0eb CLINVAR:1338520 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 46320356-fd79-4259-b344-a74f3ae0f595 CAID:CA386954965 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8f35ff04-a844-404e-a469-6e75dddd18b5 CAID:CA386954965 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fc0f498d-0266-490e-aa8f-b6fda49ce5dd CLINVAR:447491 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4760a0bf-99b7-4bc1-bcce-1ef19b3069de CLINVAR:447491 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1fb9b0f0-833a-48bb-bb67-663ad0139889 CLINVAR:447496 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 17c2d9b2-50e4-4b6c-85d4-1b1fe61bdbb3 CLINVAR:447496 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8eb7e048-cb77-4feb-89e6-03734f6708fb CLINVAR:102529 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 50b2ddce-ddf8-42fc-8b64-663182ad43aa CLINVAR:102529 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f26d553d-b26f-4ab3-ac3c-32991c15d1d2 CLINVAR:1693234 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 22cb45b2-a149-4c84-930d-9e1a378766aa CLINVAR:1693234 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c82062c8-a188-40f0-8879-86778b135d05 CLINVAR:102906 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 13630ff0-2029-4c43-83e8-0dd8672f4391 CLINVAR:102906 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen adc79216-3ce8-41a5-bc6c-f1f14cf87f23 CLINVAR:102465 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3f825ebc-d3bb-464e-8771-b2148fea6abd CLINVAR:102465 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c1054e48-38cf-4c37-bb4c-3e3dce05780c CLINVAR:102470 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 081fe19e-e897-4f0e-86cb-cc36fc234330 CLINVAR:102470 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 56fe7e64-e208-4383-bf71-07fd4675a097 CLINVAR:1691455 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4d87c540-03e8-4fd5-864c-19bd7d0f90f1 CLINVAR:1691455 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7fd911ef-74f8-4668-b052-1a6b97362f38 CAID:CA16020935 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 127e777d-b0cb-4f28-914e-27d35e4a1b5e CAID:CA16020935 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 138d5f5b-0837-49ec-b3e0-fb12a1f41570 CLINVAR:1691466 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 38437ca6-1da2-4159-bd86-df8409bef0fa CLINVAR:1691466 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8a8ea539-c831-4ac6-95bc-2f57923ad762 CAID:CA399792054 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9d3c731b-c825-4a4c-8b61-780368586445 CAID:CA399792054 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fe283dec-dbab-41ae-bd04-ebb5fc791867 CAID:CA16020923 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a1a53dad-1de1-461d-b625-afb4f02c25c4 CAID:CA16020923 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c5ff2a8c-9d61-441a-8044-80f6cd723b93 CLINVAR:102762 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 981eee1f-93d0-4b8b-90d6-4a3ac29113ad CLINVAR:102762 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d7726c35-b2a1-4840-bd2b-e89fd8d45642 CLINVAR:1691484 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ebfd9a1f-0c05-49af-bdae-a551d5c11f52 CLINVAR:1691484 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bf8c18d9-ce5f-41d7-8f03-1e9a225b5a12 CAID:CA16020898 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2f963694-eb9a-401f-9fb8-a8f5998f8e65 CAID:CA16020898 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c669d3f8-9a99-4343-8b8d-234488b7a090 CAID:CA915940332 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3d578f15-f1da-486e-a0c5-899bb377f827 CAID:CA915940332 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3bf4b520-71e4-4c42-a7eb-d91e851b3c9a CAID:CA399794330 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5ab71432-c403-4e75-8d7d-d33d7d2590a6 CAID:CA399794330 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 755c534d-5862-47a2-b1ab-b036436ec063 CLINVAR:1691487 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen cf95d9a4-7489-4f34-b004-448a1dfd6b08 CLINVAR:1691487 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e6f732c2-7e7b-4309-ab31-29528abe4b8b CAID:CA915940323 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 18d4ed3d-69d4-486c-92a0-225ca6729cfc CAID:CA915940323 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 82166159-ce36-4adc-a1a2-81587a1fd8da CLINVAR:1691489 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 31ab2dce-918f-473d-90a8-8955abcf1c2e CLINVAR:1691489 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 622ae572-764d-40a1-b123-421565cd88f9 CLINVAR:1691456 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1b2f57f1-8286-47b8-8202-9b9678afc4ae CLINVAR:1691456 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b7e57f67-a74b-4fd6-8d20-420f2e5a6816 CLINVAR:1691457 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b8d178df-a245-4f31-9eda-1f37cd65acf6 CLINVAR:1691457 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eb500ad4-d8bc-4ea1-a93f-93b0600d53b2 CLINVAR:1691458 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 38bfcd3f-eb3d-4687-a98c-3cd44b0605a8 CLINVAR:1691458 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 921fa23f-fbb1-4599-99f8-d534979043ce CLINVAR:1691459 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c4e0666e-cba8-4023-903e-71c4f8f28a01 CLINVAR:1691459 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2275ca60-8e0e-4047-916e-dc34edd1911c CAID:CA626684863 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen cdd01e55-c57d-4be7-910c-832fea7ace15 CAID:CA626684863 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 19ba1896-b19c-4526-a142-09bf1e00b592 CLINVAR:1691461 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c098b8be-a8c3-46d9-bcda-49d7a88fc38e CLINVAR:1691461 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 76304a11-b0bd-457c-b836-71824fda038a CLINVAR:1691462 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8c72fbbc-136b-4124-8fdf-817c3c6cc0a4 CLINVAR:1691462 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7995148a-9824-4ce3-a5a1-6153bb534976 CAID:CA399804780 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 476b287d-38a8-499e-a5af-4529b08e1a51 CAID:CA399804780 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c282fc2e-4867-4da9-82b5-b9c3f78758b7 CLINVAR:1691464 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 842bdd3c-d6f4-44a9-a900-7ce1ce1eb049 CLINVAR:1691464 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 12b5158e-4418-46f3-b02d-e5fba2abd489 CLINVAR:1691465 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4aef84e1-88b1-4be0-a72b-394da0cd9727 CLINVAR:1691465 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0266341f-925e-4543-a01c-d75b04eab9e1 CAID:CA915940689 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e206120d-098a-473c-aa64-73dff6b420f9 CAID:CA915940689 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 725e4bf1-226c-4de5-9c79-b87fe220a712 CAID:CA915940686 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen dafdf4e6-75ae-4394-a3e2-b67a78881ef1 CAID:CA915940686 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ed1105f5-ba25-49bb-bbe0-94388bc764d0 CAID:CA915940685 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 07e2a4e5-c270-4a17-9ba4-a3e5276427ce CAID:CA915940685 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 30f8efd6-26a5-4031-9a50-96f7baf668ac CLINVAR:1691470 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ebde9a96-7d6b-4f58-bd3e-3b70163f5e58 CLINVAR:1691470 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a3c93636-31d7-485f-9b07-aa51994545cb CAID:CA500261104 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a015f173-85ac-476f-8a0c-f20d3f68b6e2 CAID:CA500261104 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 469fa037-1f1d-4a49-8aad-8e5d7697a707 CLINVAR:627290 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c00bca2f-5e11-442c-9bcb-b95e368b58ba CLINVAR:627290 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0ffb0163-6518-4146-b677-888fd6d03776 CLINVAR:1691472 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 07a05928-e0d3-438a-b420-f4432a341ea0 CLINVAR:1691472 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5cf4b5be-6777-4203-a891-376065676b2e CLINVAR:812734 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0a4392d3-0cad-4736-a6c6-edee77967ad0 CLINVAR:812734 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e3993468-f637-4a94-90db-75f7a174e7cd CAID:CA915940687 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a92adedb-7dbe-46e1-93dd-57635ecb532b CAID:CA915940687 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ce59cbca-affc-4d0b-8844-24c4f797b41f CLINVAR:1691474 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b2c20320-cd91-4590-b955-908d24a88ab0 CLINVAR:1691474 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c9911b3f-c57a-446c-a39c-e0910a8fc913 CLINVAR:850885 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 65fa2ed8-a1bf-4985-a3c9-43e5e6a97868 CLINVAR:850885 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 88aee369-e4c9-4df8-982f-ce0833bd153d CLINVAR:1691476 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e1b8c2ca-4cd9-4317-98e7-0ec28d690df6 CLINVAR:1691476 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 59814835-c910-4f85-81ed-3662297a6ca8 CLINVAR:1691477 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ac700a9b-4647-4c50-b1d0-7c5ead309c4a CLINVAR:1691477 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c3ded747-574a-4f54-b626-632cdb103918 CLINVAR:1691478 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 29c44aef-407f-4dee-b117-0adbd9f78364 CLINVAR:1691478 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d13a4df6-9ca4-4548-ad25-26bc4c238a27 CLINVAR:626980 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4a22880d-d316-410b-b4d2-c1c11cf78622 CLINVAR:626980 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e619d467-d8b2-4eb6-8978-1518a8caa611 CAID:CA915940605 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ac1b4a85-fa7a-4239-99b3-b05e2cd67c61 CAID:CA915940605 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 48de96ea-77d8-4653-b62b-44711a3c0bb3 CLINVAR:1691480 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen bfd53d2a-55b5-44c4-a435-260e2df79247 CLINVAR:1691480 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 57a8716e-f17a-405c-9c54-6d9d5b9385bf CLINVAR:430539 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c32e05e6-5146-4e9f-80c0-fa836c6a8b3b CLINVAR:430539 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5cd86e91-3d18-461f-bd06-34eafd687f60 CLINVAR:1691490 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 953e678e-a9f1-4878-bd49-5dbe1b51796f CLINVAR:1691490 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 72513d27-7dcf-479d-a271-a17a8e564f20 CLINVAR:1691491 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 80e60747-ac7d-4d02-9d50-fcbc4ec58fd3 CLINVAR:1691491 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 01b7dee1-7114-4a1c-8457-05bc0103ccc9 CAID:CA915940808 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 490638cd-e222-4372-bead-a4df54f8e77c CAID:CA915940808 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fc5b0b3f-2a8d-40b7-a92c-d925848d0ab4 CLINVAR:1691482 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5b1f1918-1544-4c77-81ed-518c7efd1ad5 CLINVAR:1691482 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cfc26d97-da1c-4589-9d41-94ed1f376a8a CLINVAR:1691483 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 91b5cbb0-8f90-4e39-a7c9-e5d938140d26 CLINVAR:1691483 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2568a87b-a094-4a3a-be32-753d1d6e6cac CLINVAR:102737 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0523bd5a-2ea3-449a-9f2e-542a61343c60 CLINVAR:102737 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0cc11d20-48b2-4074-bc96-b876e6045da4 CAID:CA2573051040 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen bc96a772-d456-41cd-a948-e567a9c5c27f CAID:CA2573051040 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9b96bb60-0189-42b6-a2fe-cd83a5fae285 CAID:CA2573130154 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ea9b1e94-f30e-4575-a888-1ae167a71f04 CAID:CA2573130154 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 32bcf84e-902b-455b-8623-536e9f3805d3 CLINVAR:1013621 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a5fc5fed-9422-48da-a4ab-24b05660f124 CLINVAR:1013621 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 69833e0b-dfab-4c30-80a2-4f457e869e41 CLINVAR:988835 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ebc13490-c23d-4bf2-b3e3-6c40c7b29e87 CLINVAR:988835 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7b671081-42cc-4a2a-84e1-09b062a777e3 CLINVAR:812739 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5ac8c263-6dd9-4d23-92bb-9a820e122fef CLINVAR:812739 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 40b8f8e3-6105-4c52-b0f7-7dd94eb6aa61 CLINVAR:1479078 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 70b7a36d-7800-46aa-9d46-a1f09f60d632 CLINVAR:1479078 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f0597808-c1c3-4b95-9b08-7049c852227f CLINVAR:1693219 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c87f3bf5-a9a7-4a71-9d84-72f33c55b668 CLINVAR:1693219 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 398c3e77-88bd-422c-b3de-e9466c03ec29 CAID:CA2573051300 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8880381f-3778-430c-bf26-524332dbf358 CAID:CA2573051300 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6b070ff7-708b-46bc-8ebc-a348082aac94 CLINVAR:143485 biolink:causes MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 30cb8b59-47d9-4f82-b8ee-31312893aeeb CLINVAR:143485 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eaff9f69-51d2-4882-a6f5-6ed4138fcdcf CLINVAR:143345 biolink:causes MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6154873c-4d73-4959-af66-beec6baa3c67 CLINVAR:143345 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c8d619be-e42a-4a5a-9017-a1fb480f3889 CLINVAR:11835 biolink:causes MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9399cdc9-c934-442b-807f-0abc6666d933 CLINVAR:11835 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a618cec5-02bf-48b1-80ca-7ef2c8cf29a5 CLINVAR:11809 biolink:causes MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 68bb5490-c424-4037-a6e6-064ab64fdd23 CLINVAR:11809 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c289565f-cc5f-4af6-a893-4b65fed2789f CAID:CA915940209 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d5f1071c-2827-4b4c-8a74-3ae3abeb037d CAID:CA915940209 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ebcfa137-a353-4a11-8d78-be9d920e9935 CLINVAR:102537 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b242060e-310c-4080-a822-865745d2a949 CLINVAR:102537 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e934dea8-e7ac-4d4d-8cfd-d08d7e243fb4 CAID:CA16020907 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen dab4d5a6-e36a-4e3f-9e2c-2d7f0772d17a CAID:CA16020907 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 69f29e0c-1ef6-4174-bb0c-6305368edabd CLINVAR:102920 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5fb09427-3962-468c-b49b-87a6c60c29ba CLINVAR:102920 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b755517d-96ad-4a62-b2e4-3b76802f98e3 CAID:CA16020796 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 52a4290b-5c68-488b-bbec-c20b1691e8b8 CAID:CA16020796 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 77b9314c-c2d0-420f-a5b5-670a651cfa14 CAID:CA16020744 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1b10c6b2-f390-497b-a003-c0ac5ea9429f CAID:CA16020744 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 22fa7d97-8824-4ee5-bd4e-2b037bf8404a CLINVAR:371373 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d7290f9e-92ed-42ea-a3e9-a2f7c6e01d50 CLINVAR:371373 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 905228e7-6351-40e2-9fe0-0a019c63d031 CAID:CA16021007 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen af5cb3ba-3df2-4b9f-bc43-0e6ac70d87c0 CAID:CA16021007 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bf899d30-750c-4d6e-8e03-76d806c63c64 CLINVAR:102615 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b8ceceaf-481e-4bb6-b88e-01c1b6138aaa CLINVAR:102615 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 50fe936d-2800-4c58-8b66-0ed57a547fb1 CLINVAR:102622 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 72f6251d-5b12-4368-bf35-103ea3254146 CLINVAR:102622 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 910185b1-2e58-417f-89a4-59eec00354ed CLINVAR:1699992 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 09043c22-876f-4871-b495-24b48a75b1df CLINVAR:1699992 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b38ad9c6-9038-4d12-b385-02505a0a977c CLINVAR:189082 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 946ffae3-cf15-4e27-a11d-989ecf4baa3f CLINVAR:189082 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1a74b3d3-2347-45d8-8df2-ae347096bbfe CLINVAR:1693549 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5f407a45-a566-4258-b09c-fc93e69fc335 CLINVAR:1693549 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 080024d2-8275-4ca8-8f5d-95ce9208eae0 CLINVAR:556117 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d4a8246d-8727-4ad4-b943-4a8e8b61bf22 CLINVAR:556117 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f6c5b2c7-a7ce-44e3-ae26-bac8b6781a0f CAID:CA401325305 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 23337f5c-fbd9-4dcb-9cf7-278983802c88 CAID:CA401325305 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 45e4c8a9-94c1-4cf9-8ffb-12be4eb3085f CLINVAR:988811 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9156dfa1-5440-4fa1-a244-66b202578ee8 CLINVAR:988811 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b161dfb8-4f89-4467-b8e0-fef06e7a13b3 CLINVAR:1396349 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 781a3646-5f33-44d4-a332-c4308409daec CLINVAR:1396349 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fc6eee83-7fff-4c54-a265-887b779aa1ca CLINVAR:9647 biolink:causes MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ed3e1465-8287-433d-8c2f-0487e322908d CLINVAR:9647 biolink:is_sequence_variant_of HGNC:7414 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 68265092-d3f5-43f5-9ffd-920eef504b40 CLINVAR:9644 biolink:causes MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2fb15ded-0882-49ea-aee7-99bd8645c0c3 CLINVAR:9644 biolink:is_sequence_variant_of HGNC:7414 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen de9faef5-cea0-427f-a41e-ee76b811c9fb CLINVAR:425040 biolink:associated_with_increased_likelihood_of MONDO:0100040 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d987bb8b-1175-423e-ad76-27ac6cf1098e CLINVAR:425040 biolink:is_sequence_variant_of HGNC:3811 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e327a80a-7049-4c44-b007-9a19abf93b73 CLINVAR:207248 biolink:causes MONDO:0010278 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 94836683-587a-4806-846c-4be7d4a6f9a2 CLINVAR:207248 biolink:is_sequence_variant_of HGNC:11079 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 10fbafad-7f63-400b-8d1a-a9e75fb1663b CLINVAR:236302 biolink:associated_with_increased_likelihood_of MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c063031f-52a4-4701-9bcc-3b95f1d39c45 CLINVAR:236302 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 52b0f6ca-7f1c-422e-9b94-c1eeef6ef9aa CLINVAR:167092 biolink:associated_with_increased_likelihood_of MONDO:0100040 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 39a0a682-6ca5-4960-ae49-8e5093f5da7b CLINVAR:167092 biolink:is_sequence_variant_of HGNC:3811 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b1f6c765-ffe5-4e22-b3b4-1d2d50e811de CLINVAR:160079 biolink:associated_with_increased_likelihood_of MONDO:0012589 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 484807e1-1473-4dfc-bd1d-ead624147ec2 CLINVAR:160079 biolink:is_sequence_variant_of HGNC:11634 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8ba9f8ff-d558-472d-b2ae-8a89394c8cb4 CLINVAR:9646 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c4c27e53-73f1-48ad-b353-fa22a8771326 CLINVAR:9646 biolink:is_sequence_variant_of HGNC:7414 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7afc4c51-f99f-479d-bb16-e6de14414d2e CLINVAR:65921 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c4a48e83-459c-41f3-86f9-6865dbc0662e CLINVAR:65921 biolink:is_sequence_variant_of HGNC:7455 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 580463db-8433-45d9-a277-4a0f52e849f1 CLINVAR:986501 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9185bb85-2319-43f5-bb9f-9d7d038af5af CLINVAR:986501 biolink:is_sequence_variant_of HGNC:7461 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dd362e2b-d001-4767-91bc-fb2bb7ad9373 CLINVAR:217366 biolink:genetically_associated_with MONDO:0007113 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c27d081a-8e11-4872-9030-2a12d44a29ca CLINVAR:217366 biolink:is_sequence_variant_of HGNC:12496 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e7020a2b-c92b-4c49-b396-94867cf9c8cb CLINVAR:217365 biolink:causes MONDO:0007113 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen db343cbd-500a-48dc-82d6-395bed4698ce CLINVAR:217365 biolink:is_sequence_variant_of HGNC:12496 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a7ae63dd-93cb-4caf-bd11-d7df5efc7649 CLINVAR:160214 biolink:associated_with_increased_likelihood_of MONDO:0007113 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ed2836d8-bdfe-475c-9a90-9b23aaff9639 CLINVAR:160214 biolink:is_sequence_variant_of HGNC:12496 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 692f69e5-c6a8-4c83-9080-113d31e52641 CLINVAR:156677 biolink:genetically_associated_with MONDO:0007113 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e864d0ec-fc5f-4a24-a8fe-4d5a34fd7770 CLINVAR:156677 biolink:is_sequence_variant_of HGNC:12496 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 22290c37-2888-4601-8db0-04ecf849b385 CLINVAR:156120 biolink:genetically_associated_with MONDO:0007113 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8c969ac9-f1e5-498e-bca5-f3b55612f83b CLINVAR:156120 biolink:is_sequence_variant_of HGNC:12496 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 374d8ce1-0579-4629-828a-c73043951371 CLINVAR:1693553 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f2e597bb-70a1-4cfc-a4ab-1662215ee30a CLINVAR:1693553 biolink:is_sequence_variant_of HGNC:7461 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 461317fc-53f7-4e3b-9a5a-4396cf506d6e CLINVAR:143738 biolink:causes MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2834c697-7023-4271-ab6b-2a08d4ca7e65 CLINVAR:143738 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 05f792ad-ca5d-4565-9c04-291d84f45405 CLINVAR:156124 biolink:genetically_associated_with MONDO:0007113 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a2ae22ae-fa4f-4b84-b09c-100337d53ee7 CLINVAR:156124 biolink:is_sequence_variant_of HGNC:12496 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eaf6daed-f726-437f-b6af-92a134343242 CLINVAR:191364 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d0f62c1a-e8b8-4f30-b951-e9ef8108a836 CLINVAR:191364 biolink:is_sequence_variant_of HGNC:7414 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 264c45f7-af48-4d5e-8a2e-e7059fab65ed CLINVAR:1066009 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen fc7231dd-dac7-4db6-85dd-afac7496f844 CLINVAR:1066009 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5f5ed171-e4bc-414f-92b8-6dadbe8d624e CLINVAR:155881 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e07b88c6-f71c-40b5-a568-6c1959b2bfbf CLINVAR:155881 biolink:is_sequence_variant_of HGNC:7455 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fd6d96eb-a21c-40f7-a5fb-c27de681b6df CLINVAR:9698 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7b07b281-0e10-4514-9994-8514cefbc344 CLINVAR:9698 biolink:is_sequence_variant_of HGNC:7461 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1d99c0f7-cfcc-4410-9e25-0f226b2b6548 CLINVAR:9691 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9542c53c-5769-4a7e-bf27-9f039cb905b9 CLINVAR:9691 biolink:is_sequence_variant_of HGNC:7462 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eb7f2f99-a989-4c88-a841-4b9290a5d989 CLINVAR:65515 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9b56aa80-a0a8-4079-b483-43c25b6345c0 CLINVAR:65515 biolink:is_sequence_variant_of HGNC:7462 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 58320f8f-ded6-45f1-aed7-ea8b00c67d83 CLINVAR:9732 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8345d1bf-da40-438f-b7fa-246fe0e5b0a0 CLINVAR:9732 biolink:is_sequence_variant_of HGNC:7455 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a42afe0b-d33a-42c2-ab61-fb45d5bc8fe4 CLINVAR:155889 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen fb3a5072-d992-4d4b-955c-e5d0319f5c39 CLINVAR:155889 biolink:is_sequence_variant_of HGNC:7461 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0e7871c1-bf74-453b-a35a-0e8ddd371880 CLINVAR:9693 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f415c22c-5450-4391-9a67-46728ad202b0 CLINVAR:9693 biolink:is_sequence_variant_of HGNC:7462 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4c47a408-04a2-4b52-a874-6656e3f7076a CLINVAR:9711 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4cd2aa60-849c-4857-90f3-4540c7b5107f CLINVAR:9711 biolink:is_sequence_variant_of HGNC:7459 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 338a7860-f669-4b44-8eb0-1b645ab93e1c CLINVAR:9685 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 456c63ba-a156-4f7e-89d9-65475e4d7358 CLINVAR:9685 biolink:is_sequence_variant_of HGNC:7427 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f0a04217-3b2c-4532-ba89-df9a802e60ae CLINVAR:9692 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 99e7ab99-7415-4613-99dd-89bc56d5f078 CLINVAR:9692 biolink:is_sequence_variant_of HGNC:7462 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bfcd2ca9-05d1-4fc4-bbde-3bad3fa451c4 CLINVAR:9548 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c5784cb2-22b1-4038-ac10-8171f0c59179 CLINVAR:9548 biolink:is_sequence_variant_of HGNC:7500 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d61d012f-3585-4086-88f1-ac1aa7f390ac CLINVAR:9576 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8be452bb-5ee7-4b6f-89fb-c608471914e3 CLINVAR:9576 biolink:is_sequence_variant_of HGNC:7481 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ed8b2ffd-b515-4ee8-8048-f7ef187b1f0e CLINVAR:9731 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d2cd2401-4765-4d86-94ef-4d17826dca45 CLINVAR:9731 biolink:is_sequence_variant_of HGNC:7455 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 39acb96f-d8f9-4ccb-8680-561ede57238f CLINVAR:9703 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3147b2ea-f955-4c5e-930c-b132e243b194 CLINVAR:9703 biolink:is_sequence_variant_of HGNC:7461 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bb9dc8c9-a4bb-4d2a-b0b6-f98b12e81f5a CLINVAR:690280 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen efc49e54-2ca0-4bde-a4ee-a31370ecf0ea CLINVAR:690280 biolink:is_sequence_variant_of HGNC:7414 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bbb3db50-6894-403d-8d94-6821f7f19675 CLINVAR:9708 biolink:causes MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen af643e45-b33a-442c-a5d7-8b5749b31471 CLINVAR:9708 biolink:is_sequence_variant_of HGNC:7459 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 53ed2712-4c51-495c-b2a4-0c8273b472f5 CLINVAR:9640 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 44701673-47ed-43e9-9b6c-aed481fa02a9 CLINVAR:9640 biolink:is_sequence_variant_of HGNC:7415 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 897708ad-9007-4591-8e65-593ea4915f12 CLINVAR:988857 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 186f5058-0e5c-417a-a805-b994db36f448 CLINVAR:988857 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f15d1d57-1bab-431a-8ab3-4ae0dd46871f CLINVAR:226334 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1ea53d36-73b2-4379-8bb0-5e3457a7f6d1 CLINVAR:226334 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0d659a0e-6579-4c2c-b73d-da30b1a21629 CLINVAR:251456 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f59aac10-340d-4b94-bb58-e838a8af8357 CLINVAR:251456 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2adde6b6-5a79-4d2c-951f-2040f1dd5da8 CLINVAR:251457 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4b0bd6a5-79d9-4b30-911a-ee53005e2d38 CLINVAR:251457 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cc18c99d-719a-4bde-8d3c-413cb17005de CLINVAR:251458 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9a2309d9-ac6e-4d7b-82eb-6e0cabe63b88 CLINVAR:251458 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f2313b32-df86-4ccb-8511-85858985b724 CLINVAR:251488 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a717623f-7a0b-4d27-b97b-122fcda54c20 CLINVAR:251488 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ee9a1d73-6c05-423f-a5db-d5ed993ba6b8 CLINVAR:183101 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0fc84345-0842-469d-92f4-5f5d2ed2da11 CLINVAR:183101 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 833e82d8-09d7-4d00-975f-63b833e33941 CLINVAR:251903 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a81b6478-7657-4ab5-a7de-9b9c553f3011 CLINVAR:251903 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4f7c9a3b-0c00-436c-a427-cb2a7544098d CLINVAR:496019 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b1389958-a5ca-4401-bfff-fdfef01b2b24 CLINVAR:496019 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 090d1425-360b-429e-bdc5-371b3e82fcea CLINVAR:251904 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c6d57b55-4f5e-46b7-b9a2-f5c6c2807b2c CLINVAR:251904 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e5107751-809a-4f91-9e8b-adfdeb88f65f CLINVAR:431531 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 71a2f4fd-e21f-4c1b-9fed-94e17026a28c CLINVAR:431531 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 155e9047-5b68-44c0-a598-5e83f7c0f992 CLINVAR:3686 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f26b4878-3e3e-46e5-a786-819793d0ac89 CLINVAR:3686 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9621e33d-55fc-4cfc-899f-6e84b5086719 CLINVAR:226329 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3b64f0fc-d0b3-43f2-aef7-7b32981f687c CLINVAR:226329 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aa9339b1-c80a-47f0-80cb-a322a7aa77ad CLINVAR:251356 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6b7cbff1-b6cc-41e4-9279-1487d660a6d3 CLINVAR:251356 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 78c8fdd6-54d5-46ed-a6fc-621a311cd161 CLINVAR:183092 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c9d3b8ae-1196-4d57-ae09-569fe4f6a44d CLINVAR:183092 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e9d0c91a-5933-4596-8f85-b8c4b639a57a CLINVAR:161286 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 89d018a9-88e5-4424-b678-2990acf58df4 CLINVAR:161286 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 76fa04a5-607f-4304-9756-6d9f0593837d CLINVAR:586794 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e4a31e4e-60a5-4f12-98d5-c25ea008e882 CLINVAR:586794 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ed1f5d0c-0996-4369-b8b8-4af00249a36d CLINVAR:1700000 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4f2a83e7-fc24-43d9-a2aa-7127665b1241 CLINVAR:1700000 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b6f28da2-f7f5-4e03-89cd-91423492aac4 CAID:CA2497030023 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 96f420bc-54d3-48b7-99b6-ac474ac971e4 CAID:CA2497030023 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cefeb2de-9822-4b3c-8437-68998c40d2fd CLINVAR:1315998 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ab61be64-2396-4384-adb9-cc8d1be5641f CLINVAR:1315998 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 09ac6eef-5d9a-4084-b192-43b88f64dc36 CAID:CA2573051042 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 75e9356c-6a30-464f-8c77-f49622554c07 CAID:CA2573051042 biolink:is_sequence_variant_of HGNC:25719 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cd13105a-4187-4e44-81a7-03a8a832d7c8 CLINVAR:14931 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e5ca9c74-c519-450f-aec2-1ddd84e1f79c CLINVAR:14931 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 23cd8705-6a46-4e99-a524-8b0af46a00a3 CLINVAR:627101 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8a2a5c55-8a1a-4912-b21b-fa96530c3782 CLINVAR:627101 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 05336be3-e652-49c7-8eba-040578f5be3b CLINVAR:561235 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d47a9d1d-bc0d-4016-843f-328536404b8e CLINVAR:561235 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 492aabc1-c8da-444c-9bbd-29d12d06da06 CLINVAR:1194557 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen fe2a6a3b-8bda-4980-b9e4-d5c0e35903f3 CLINVAR:1194557 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8b08298f-dd2f-4fe6-8d89-8e2d1a01faf4 CLINVAR:1488717 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 08f56796-f19f-4d13-a7d9-b60c19526b1a CLINVAR:1488717 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f83b7e03-321b-49fd-9352-c71c0951418e CLINVAR:1073521 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a7f2e60b-57ba-4530-91d8-b36bdfb2086b CLINVAR:1073521 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7f115ddf-2e15-477a-8289-5e0b311f4fbe CLINVAR:943551 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 923d2e5a-9a15-4533-8f8d-a9d6247bc6b5 CLINVAR:943551 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 83991c9b-3da0-457d-8052-4c4538af5223 CLINVAR:561225 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 180cf072-ab78-4c7a-9331-b1ae2eb3838f CLINVAR:561225 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 47c75e30-0f5f-4864-8154-607c121b7d04 CLINVAR:1459069 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2d6eed52-d5c1-4aba-af2c-99bca1c69c9f CLINVAR:1459069 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d944fd5d-4c08-406b-be25-3de50ef5d9b2 CLINVAR:666187 biolink:genetically_associated_with MONDO:0100083 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b2f5f5d2-75aa-4709-84d5-e594b468f0f4 CLINVAR:666187 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 797047bc-c6fd-4799-97d0-062bac32664f CLINVAR:532666 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3fc13b06-7365-4c18-91c4-a8379b6946bd CLINVAR:532666 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 374b1c19-57f9-40f9-a930-14faaca13ce8 CLINVAR:660838 biolink:genetically_associated_with MONDO:0100083 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0fc8451e-2bb1-4ae5-aa53-daab66c473d5 CLINVAR:660838 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 699b5dca-4a71-4179-8782-61173db367b4 CLINVAR:843935 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6bc2e3fa-d7c4-4975-996b-e43676a31ed6 CLINVAR:843935 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 72c90cc0-e322-41db-9b3e-46138e2ae497 CLINVAR:861043 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen daa5ee4f-53cb-4594-8528-6ee876f5d801 CLINVAR:861043 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4d477dc3-d113-48f1-9a69-368c973835f4 CLINVAR:898729 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0a43015f-d645-4007-aaa1-c11939212894 CLINVAR:898729 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 050cae39-d842-43c7-8e28-eff5b70098ae CLINVAR:747644 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen db70e79e-b1c0-4f38-aecb-8878debd690b CLINVAR:747644 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3e8b4be3-42a1-46bf-a687-637b8a4205ef CLINVAR:1069299 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6dc9cf3b-8304-4ec4-a7c4-6fcd44ad47f6 CLINVAR:1069299 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 66f4c951-74b6-40bc-a2b4-349dc81b3dca CLINVAR:1076589 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen db2bc5ff-e2c7-4bec-a49c-e79a4e76b099 CLINVAR:1076589 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b41d107c-2b4a-4253-ad11-df853526bde1 CLINVAR:239058 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c603cd59-23a6-4b9d-a870-2edcbc222a59 CLINVAR:239058 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4026ebde-1e4f-4e75-a056-22ba6046c939 CLINVAR:761366 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5e159db3-80f7-4dc0-af3c-db0c9965aede CLINVAR:761366 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a879f8e9-a654-40a5-baa8-bbbcaeb089f5 CLINVAR:1165599 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen adcbef6b-08ac-42d2-b370-9928b722061a CLINVAR:1165599 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen abda4d17-dbbf-4f47-853a-3c2267350eb9 CLINVAR:812740 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f505186a-a9e1-4cec-9293-e1bdd399dd0d CLINVAR:812740 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5ba64a49-04f8-4a8f-a512-54cde937eca8 CLINVAR:1013620 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 40b405bd-9b1a-414e-9e4b-83d2eb5fec9b CLINVAR:1013620 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f4d5c783-3f30-4838-a1c3-c32fd5f0ec3f CLINVAR:580539 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 23af4ada-bc6b-4c39-b94e-e9543197c770 CLINVAR:580539 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 020d6f79-764e-447e-9905-31467be7d914 CLINVAR:941820 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 905a6277-f75e-4e59-9c81-6f65048a28b1 CLINVAR:941820 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aececfbf-7b44-4257-aaa6-fb9f1e27e820 CLINVAR:1000131 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen aae0665f-e0e0-49a1-90e9-6aacd37960bb CLINVAR:1000131 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0e0a8ec2-5d42-4558-9f2d-0244e694baba CLINVAR:532685 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2abca234-e7da-4d34-8941-4ddc22d2b1fa CLINVAR:532685 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ec904140-294c-4508-b9bd-f0b31fd88559 CLINVAR:464000 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 96823fdc-4821-4485-b98a-22848a0b43f9 CLINVAR:464000 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dd480620-b440-4dd8-a8f9-a57dc567d30e CLINVAR:463976 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1cbc07c9-e246-4e7b-a7cb-160393e85fd3 CLINVAR:463976 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1b59a717-09d7-44f4-9bee-46d9d1a79f57 CLINVAR:706138 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e080d690-4ad7-48a2-833b-aa96c7e033fc CLINVAR:706138 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 15d1d239-06f8-4e2a-94fb-2ef2d279520d CLINVAR:1012038 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2403b129-d2c9-457c-bb36-7f4428055f01 CLINVAR:1012038 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ca38c3ad-e41a-4c0c-a22c-0d9f04432d4e CLINVAR:1116571 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen cd3cfd09-aec5-49c7-9230-3f90581552fc CLINVAR:1116571 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3b782cd4-23c7-41d9-9c07-46483baf03a7 CLINVAR:1135117 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a0d75628-a600-4ab9-824c-bac88051b4f2 CLINVAR:1135117 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 97731910-6b3a-40cc-8bf9-f4041c20ba41 CLINVAR:627081 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen cc8da62c-a914-490a-88ea-f9b050ccd4bd CLINVAR:627081 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4aecfb91-a759-4c27-9ac8-88f92a131e03 CLINVAR:4468 biolink:associated_with_increased_likelihood_of MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b4af12f6-15d4-4a1f-b0c5-72b5bf3ac807 CLINVAR:4468 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 72fd00d3-73f1-4116-bae8-efafec2c9e6e CLINVAR:690480 biolink:causes MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen dd195e04-11e7-48cf-adc5-552e7842728b CLINVAR:690480 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cd039aba-d158-4949-bc84-ee08acd74922 CLINVAR:412119 biolink:causes MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e5f92202-09a1-4927-882b-4501ae22f7f0 CLINVAR:412119 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e033d896-fd1d-4cb7-84ac-80cb3913e05e CLINVAR:254350 biolink:associated_with_increased_likelihood_of MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ce1f0dca-9830-49c6-9103-01b3664b7b62 CLINVAR:254350 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ad504201-2f29-4948-868b-f5633c8b2581 CLINVAR:690454 biolink:associated_with_increased_likelihood_of MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f9227a61-3173-4bf6-b458-b621bd7d57b3 CLINVAR:690454 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d5bda6b1-8e55-4602-87db-ca284f3b8883 CLINVAR:254344 biolink:causes MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 39efee0e-3aac-4bcc-9c98-642d3ba33c29 CLINVAR:254344 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6f192e2b-1ee6-4f8a-ac11-2f49c4a47e85 CLINVAR:254287 biolink:causes MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d7c5e14e-92b0-480c-ab40-dfe5628eaaed CLINVAR:254287 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aabebc51-8d30-452e-bfc6-86fd05df7943 CLINVAR:429113 biolink:causes MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0424832c-85b2-4e34-b9d6-3f6e366961f0 CLINVAR:429113 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bf692f09-e456-4487-9e52-2605f90e21e7 CLINVAR:254298 biolink:causes MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3d5a3926-8608-4bc4-9451-41a8c6d9b7a0 CLINVAR:254298 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9234d64f-ee93-44f4-9f52-a185fb6bdebd CLINVAR:254355 biolink:causes MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 189ac4b9-4b30-4fcd-85df-196413be790f CLINVAR:254355 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a15afc90-ea6f-453d-babc-71a707abb68a CLINVAR:254310 biolink:causes MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6de26e5b-35ee-469b-a475-95c9f011fac3 CLINVAR:254310 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 623daa9c-ea2a-4a0a-88c5-0c4f921cb2e9 CLINVAR:429148 biolink:causes MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 545beb1f-3ae6-49d1-b79c-8409eeb4eaa9 CLINVAR:429148 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 38ed86ed-4309-4b6a-8ea6-0d93a1f4a41e CLINVAR:429116 biolink:causes MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4ff92084-73c7-4a5d-ae35-f76818834551 CLINVAR:429116 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen af819759-6825-4f69-a276-373e956593fb CLINVAR:477261 biolink:causes MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c116ca2d-a6e8-44fe-996e-8b061ccac465 CLINVAR:477261 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 83978570-32ba-46b2-9b9f-d765adc4d806 CLINVAR:436614 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6153c6a1-19d0-4816-824b-49c810e09cc9 CLINVAR:436614 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8bfb5cd8-eb75-44b7-87f9-7210e1de2968 CLINVAR:627384 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9354d1ea-b3c1-4807-b777-9e148e0a092e CLINVAR:627384 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0ecc3e80-38eb-4493-a87a-4ecf56a52bc5 CLINVAR:575111 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f0d84609-e2fe-4cf5-a101-212522497cd0 CLINVAR:575111 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7e2e3583-e5a2-45cd-9786-7fa77bbba9cb CLINVAR:1695375 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2c0bba52-4ca7-4ba3-8306-98c0fb74caef CLINVAR:1695375 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 42f8cb43-3599-4325-9e5f-e746a6283996 CLINVAR:464008 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f267aa9c-c55f-4f2a-b3cc-99498bbfb751 CLINVAR:464008 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2341df93-7b6c-4f46-bc64-4766cc058af6 CLINVAR:574330 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d972f639-a2b0-4c17-a5b4-400e4eb0d2bf CLINVAR:574330 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 592241e1-07eb-472a-aa05-439646173e8c CLINVAR:580203 biolink:causes MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2e673b4e-6727-4105-a5f1-67bc5449e964 CLINVAR:580203 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 019a1242-ceff-4192-acb9-49bc5c49ca95 CLINVAR:650411 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0d926d04-05f7-42be-bf94-fb44f555e288 CLINVAR:650411 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 318d99ad-e014-4079-8f67-ca413fa13cb4 CLINVAR:566588 biolink:genetically_associated_with MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8866873b-80a5-483d-830d-94940e3b36fc CLINVAR:566588 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d8b6b0f7-794f-412c-9d75-d719d1fb74d5 CLINVAR:649946 biolink:associated_with_increased_likelihood_of MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7b35d983-d3fa-4a63-9ca9-d6af639954d1 CLINVAR:649946 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 483363f8-c43e-48ac-a11e-9128f3c8a2ee CLINVAR:392183 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 32de3807-5b56-4229-8ba8-162f80b5e0c5 CLINVAR:392183 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5cdbee14-ba09-4642-9aca-a366dfbcf50a CLINVAR:242130 biolink:genetically_associated_with MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 75333af1-456d-4a81-ae92-f99b4b8b1b1b CLINVAR:242130 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9ffe9acc-ad19-44a6-bcbf-d9521c5ee507 CLINVAR:947388 biolink:genetically_associated_with MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 66276158-aede-40b0-b3dc-e22e0d58a049 CLINVAR:947388 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 27690194-71e0-4cfe-8721-b8c2122af4a2 CLINVAR:412120 biolink:genetically_associated_with MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b104844d-4773-428d-bb02-e3c12b825d87 CLINVAR:412120 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4633c155-dc69-4687-ae55-16c771e252ec CLINVAR:242076 biolink:genetically_associated_with MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3cd4a266-a6ff-4f0c-8ed3-38eb50245522 CLINVAR:242076 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a57bfdd0-80d9-497e-915c-ce6ac10e7ef5 CLINVAR:477260 biolink:genetically_associated_with MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5257cec2-a8e7-4ed8-ae49-8a751a9522bb CLINVAR:477260 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 75b85856-2fd2-4571-b5fd-f7044967c4dd CLINVAR:690445 biolink:associated_with_increased_likelihood_of MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen fff52cb8-12d2-414c-8f4f-5967fc320171 CLINVAR:690445 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 51c02943-92d8-426a-98fe-74aa0525cac0 CLINVAR:133202 biolink:causes MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 706a1a25-79a0-4f63-9d1b-1ed3125fe41f CLINVAR:133202 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ffc02067-cc2e-4f51-b3e6-66c39fedfc37 CLINVAR:478159 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5835bfd3-1e06-43a8-99e4-689b1f614ef0 CLINVAR:478159 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c527e389-3010-466a-8ee0-aa9562366f17 CLINVAR:133174 biolink:causes MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1acb6fea-7233-44e1-a4b1-f4b6cb9e21b4 CLINVAR:133174 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 99a72e26-2e47-4b50-9ca2-c5be360261db CLINVAR:65981 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3bf50fdf-db53-43bc-b856-adebf7ab605f CLINVAR:65981 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e41575d5-f4e7-4121-a876-84fe9990f73c CLINVAR:133028 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 123492a2-69b4-4bc8-a4ee-f74a12c2554c CLINVAR:133028 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 01d9ce32-a6e9-4b0c-8eb9-ace7ec2681bd CLINVAR:133012 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 30d375b1-cf9a-4da4-a521-21c8a756e625 CLINVAR:133012 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 00579475-28cd-488c-8e75-dce3dc55628e CLINVAR:133098 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 83013ffb-326f-41aa-a0c7-953de3515416 CLINVAR:133098 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fd4172fc-36a6-4ea0-832e-d39389bc80db CLINVAR:133074 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 005b77a8-e1c1-416e-9d3f-e241d52e1b21 CLINVAR:133074 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1e6d026d-3617-42e3-b6cd-f1d17add8e2d CLINVAR:133072 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c45da002-e770-49d1-9f36-1fade3648bdd CLINVAR:133072 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 23240fe6-1dd0-428c-9326-5e76300a4acc CLINVAR:12978 biolink:causes MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen bba7397d-8a76-4063-8a1d-f51e719af346 CLINVAR:12978 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 170a48e6-ffcc-4d72-b1e3-f181d12545cd CLINVAR:133240 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 00b5bab8-50a7-423d-89ca-bbba8cbcee91 CLINVAR:133240 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c7b6d334-b30f-484d-aa1a-6db80433b1cf CLINVAR:65980 biolink:causes MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e255c8e6-b46a-438b-a052-c3790b9a3644 CLINVAR:65980 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 51ac0fa2-6c88-4f41-ab27-794caa76a26f CLINVAR:65979 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ed6c2903-784a-4227-847a-fee4d59ff623 CLINVAR:65979 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9e53edf6-9046-464e-ac37-31a3f8582203 CLINVAR:12966 biolink:causes MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7d0c669e-490d-46b6-88b8-a610bf5f00a7 CLINVAR:12966 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6ab524ad-4567-45d4-b92d-b1613904e25c CLINVAR:12970 biolink:causes MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2e2d7a95-eb13-4223-972b-c53671ef2bb8 CLINVAR:12970 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 246363e3-aa77-48c8-bf2e-141e0567ae13 CLINVAR:133189 biolink:causes MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 10644a9f-27f9-4b3b-b8fa-b04ee60f70ad CLINVAR:133189 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0df56901-ef1d-4f8d-8144-125d1f5e6d5b CLINVAR:133183 biolink:causes MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 24e4883c-0d3f-43b3-bb25-1a8c4b79ace5 CLINVAR:133183 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7383abd9-b044-4a2a-9825-fd14b0097ce6 CLINVAR:133180 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 61e62ce5-1ebe-4b0c-8918-0ab932945eb7 CLINVAR:133180 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f83a0ca1-26a3-413e-935a-d3510e7ec116 CLINVAR:12965 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a4ca362d-4adc-49be-be6c-270a2e3f022e CLINVAR:12965 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b77fa72a-4184-4519-a1c3-ac0c03d87257 CLINVAR:198090 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0f31de7b-eca8-43f9-9bd3-24e4176dacf9 CLINVAR:198090 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bd7ffdd5-7525-4660-9834-7ad9a7db8a15 CLINVAR:448981 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 748c5488-523d-4c73-bc86-c214d0436b5c CLINVAR:448981 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 19c0c783-5e0d-4e84-b4e8-6e5edc9c8dbf CLINVAR:932849 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c459ec5d-b473-4a25-96d2-c203d6f3525f CLINVAR:932849 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 940aed0c-416c-4a80-85a0-61f32db671ec CLINVAR:932850 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5baa6ab9-a914-4c71-96b3-5693ec418141 CLINVAR:932850 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c3900b35-c707-4b8b-86bd-c0e66fe44f1f CLINVAR:840694 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen aa8edc43-ed9f-4449-80d1-719d08712192 CLINVAR:840694 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bb8b2fc6-3f53-4671-9d78-689e2e41f4fd CAID:CA397723954 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a3724d65-b8cb-4244-a6da-249c80a07004 CAID:CA397723954 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 39a50e0b-78d3-4aa5-92c7-0b2734b68393 CAID:CA1139768925 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d0e231b4-de87-44ed-b701-3f70b3acefce CAID:CA1139768925 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c0fb36f8-8481-4338-8f0d-350d83c0df0f CAID:CA16020958 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 756d6de1-4b7b-4de2-b739-58cb48e87bac CAID:CA16020958 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5c60b925-22e2-48f7-8c22-7623f204952a CLINVAR:102522 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 12a93e02-f664-458b-8b9f-c77364b3882f CLINVAR:102522 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f3c9d4f7-f7cb-4f3a-8ab4-7a58ea19d931 CLINVAR:102524 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c32af15e-4888-4988-a877-924bf533c291 CLINVAR:102524 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6c9eb9c9-2d8f-46a4-9da1-3f83ffc36c67 CLINVAR:102548 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3016150f-3655-4890-a476-11b79023a6a1 CLINVAR:102548 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d1c7c05b-d062-4930-b603-33784fd781e2 CAID:CA386304006 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f231e34b-573c-4373-8e2b-532afc545bab CAID:CA386304006 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cbed058c-9ab4-498c-ad30-84f879f8c05e CAID:CA16020928 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 77781058-4d5e-4e38-ad29-340c7bc55398 CAID:CA16020928 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 85e777f4-e18d-43d1-a15c-df2c6cd89d80 CLINVAR:102855 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 49251b3f-70da-4582-87b6-28cf716ae0dd CLINVAR:102855 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7dfe3fd2-c42b-48df-a162-1da6f6327747 CAID:CA386493446 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e7192115-a357-4af7-8974-3ad9e2c46ca3 CAID:CA386493446 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 88600b87-9dc7-489d-b295-667b0c5ec306 CAID:CA386493436 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 99f24b48-7154-4fc5-8557-2df0c07a3c56 CAID:CA386493436 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6038b8ea-b7b2-473c-ab02-56e30da5d5b0 CLINVAR:164401 biolink:causes MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c61fa2d1-1112-491f-b159-36637e111c29 CLINVAR:164401 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4ae2e7d1-c3bb-48ef-8dd6-760710f52a6f CLINVAR:43098 biolink:associated_with_increased_likelihood_of MONDO:0005021 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 71f716bf-4ccd-4d43-8193-999a9f0a0dc6 CLINVAR:43098 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 277d0d2a-0c4a-42e5-ab63-bd1baca2d331 CLINVAR:177627 biolink:associated_with_increased_likelihood_of MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 88112a66-1b37-467e-9aa5-f75997e3d3fa CLINVAR:177627 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4b7f0d4d-0388-4f23-a4f6-64eab52fc1d4 CLINVAR:181267 biolink:genetically_associated_with MONDO:0005021 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a8a77fb7-28dd-454b-926a-11f0836e8b33 CLINVAR:181267 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 571db077-bdc6-4d4d-a7ea-a84ea22753ab CLINVAR:42834 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3b3f738a-48a0-42b8-86c2-c92386b6cc34 CLINVAR:42834 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 024a9a3c-bd33-4e1b-8273-fafbfebf7060 CLINVAR:228918 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2041c3f8-bd97-4714-83f0-da011fbe8b77 CLINVAR:228918 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ce36ff8d-779c-4428-a58a-62c713e41f13 CLINVAR:181349 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 654b90b9-99bb-40a8-ba3e-79b3d8d7ac6c CLINVAR:181349 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 26438b0c-05d8-491b-be7c-6436fa6fe301 CLINVAR:42912 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3f186b10-dce3-4101-af2d-dfb7e43e5971 CLINVAR:42912 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eeaa1866-33dc-4a8e-a152-7473d6b5c360 CLINVAR:181202 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 635a8a13-c1c3-4cd3-b777-8444c5af85cb CLINVAR:181202 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 06ea88fc-09ef-4a06-8eb4-d3279e772c4a CLINVAR:164351 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9d00ca95-1ff5-4c81-b07f-ca415a557c4b CLINVAR:164351 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 18dca330-5f55-4e23-ae1c-4b6530810f15 CLINVAR:43110 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7b913e77-7809-4b47-b26b-d0988314dac9 CLINVAR:43110 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bec8f032-4535-4f82-a99f-3d7bd3e122b0 CLINVAR:181324 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5f05c138-89d2-48e4-bc1b-7ed8440c1bed CLINVAR:181324 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8a72f193-75c2-4cc8-983b-2c90d0e26a56 CLINVAR:264607 biolink:genetically_associated_with MONDO:0005021 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d3f29708-6c6f-45ed-b3f1-ee807dd8588c CLINVAR:264607 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 70d88b69-0dc8-4a4d-ac0c-3d611996cd29 CLINVAR:43196 biolink:associated_with_increased_likelihood_of MONDO:0700087 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 17c76396-f820-4360-a297-a05f93f0b0ed CLINVAR:43196 biolink:is_sequence_variant_of HGNC:7606 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4cafc7fc-d827-47ad-aadf-44305870bdf4 CAID:CA1563057 biolink:associated_with_increased_likelihood_of MONDO:0010986 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8e89135a-74fb-4fd5-89c2-4851b1bf1142 CAID:CA1563057 biolink:is_sequence_variant_of HGNC:8515 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e97dcd30-9571-402b-9190-f2cc2403716a CLINVAR:1699993 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3cae7e3d-ab71-4152-9dac-c3d8ccdb9096 CLINVAR:1699993 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen afee7db0-b0ae-4d7a-8705-8abbc524f54b CLINVAR:1699994 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2a5310d9-b9e7-4772-ac26-15a0a031025b CLINVAR:1699994 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 29bdf4d7-b131-4d2c-bb39-e52b32c988ac CLINVAR:1699995 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 73b76e47-2868-4962-a1a2-df44b03021fc CLINVAR:1699995 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8fc9f1f1-5a6a-4b33-afd2-69e894540fcf CLINVAR:1699996 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e26a3d74-da77-4a5f-bee3-0d60f988535c CLINVAR:1699996 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ff957090-2651-43ad-b6b8-cf948aeecb7b CLINVAR:1699997 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen de90ec74-a36e-4dce-927b-93ce52d577f8 CLINVAR:1699997 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3394d8ad-35bf-44a3-ab97-b8340fbaca24 CLINVAR:1699998 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7db1ae8f-ed04-4640-b52f-6cab75a453c8 CLINVAR:1699998 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b689f72b-4d40-4ebc-93b3-af77df6b5b92 CAID:CA386967815 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c972e8d6-aef0-4393-adfb-52a97365a5e1 CAID:CA386967815 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2ebd304f-62a0-4ec0-b52d-46b21bc401da CAID:CA386958691 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 99a550b2-b8ab-4b71-93a8-6f42f151cfda CAID:CA386958691 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bbc47583-8a4e-4280-9f66-92a1d6fb3e9d CLINVAR:1804171 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fdbbd3c4-282e-4be7-b427-ef8d249ed694 CLINVAR:1804171 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 27de29e8-2686-4741-a45a-1235ce35d501 CLINVAR:203585 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6c26ff94-9e86-4757-a5bf-24d575a63051 CLINVAR:203585 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3fdccb88-645e-43ef-9871-ae4f55490d4a CLINVAR:371449 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d5eb4409-99f2-426e-a4f8-5ac81c2f1a8b CLINVAR:371449 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e366bb6d-02e4-46ad-b10f-f4d1ef737465 CAID:CA397722455 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1c7e6874-d376-4325-a245-3422dace41f1 CAID:CA397722455 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2019ee94-2079-4c57-a26a-15ba5fa4e059 CLINVAR:21025 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c708bf4e-0f2a-42f9-9cc4-4e6002e444c1 CLINVAR:21025 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9d1ce2bf-611c-4755-86e6-62ad108e6692 CLINVAR:92275 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 206d94e1-af55-4cd0-b047-ed589e824ae6 CLINVAR:92275 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4cf1bd08-5200-4f33-9041-6b3f41428a27 CLINVAR:440555 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a0c791d5-a517-4d8d-8c0d-19770a528ea1 CLINVAR:440555 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3bc31830-4bf7-450f-aa72-857d51452fcb CLINVAR:251105 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d0584cb9-3412-435f-a70a-d552c05f912d CLINVAR:251105 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1027b3a0-811a-4da6-8f24-1b9e013c185a CLINVAR:251699 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0c1a19c3-fd8e-409f-b75f-c4e751061f46 CLINVAR:251699 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4521f4c5-9d06-40a3-af7f-f2cab6f09e6f CLINVAR:3695 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d48c516c-fed7-4b7d-8d30-41f708417405 CLINVAR:3695 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bf3d3a60-250e-4814-baf4-e1d9b2c93e88 CLINVAR:36454 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4ea31c34-2bbf-4fe5-93e9-0dd3302a3fb6 CLINVAR:36454 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ea385c20-ba9e-4b05-878c-c5090e378fc5 CLINVAR:162499 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4539a88a-7a8d-4223-90bb-9cd5e62376c2 CLINVAR:162499 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a52c7bb3-5fe3-4ca3-9983-739aaee318c7 CLINVAR:226363 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen da3ec180-3d59-4f37-a9fd-22ca648fa74f CLINVAR:226363 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1c291102-2c46-4a37-8047-ebada9b313f9 CLINVAR:251938 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4ef721f5-fa84-4a43-9e84-0d719b4a2945 CLINVAR:251938 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen af4bfc95-c2b4-4876-a3d4-46b4f59e3719 CLINVAR:251085 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9e909df4-0f43-44fd-ae72-a6ca815b13b1 CLINVAR:251085 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 991fa351-5346-4097-a511-a73841e927cf CLINVAR:251436 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ed06ac9e-ce93-4f12-8fec-b40e725c1685 CLINVAR:251436 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ebe87100-1b0c-46fe-a2cb-8b86ff92725a CLINVAR:375806 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen fba057d0-340b-4319-a81f-0b8d381b9f52 CLINVAR:375806 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2e049c11-4bcc-4e26-b5a4-8df4dd4dafad CLINVAR:373769 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen dcafa16d-00a2-40c7-a4e7-94d4887a8bed CLINVAR:373769 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a47becfe-c858-4ea0-a76e-48b2d54f80ca CLINVAR:252302 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 74445870-4f63-4ca1-a527-d5047d646f74 CLINVAR:252302 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7fc33e7c-a647-45b9-b2c7-7ae34cad8a56 CLINVAR:250954 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2f7ddbe0-05de-4f12-a290-8be68ce19ee2 CLINVAR:250954 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3e3b0593-704f-40ce-81f1-7bea93a19623 CLINVAR:250980 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 723c3dff-63d2-45e3-9194-81b7c8887074 CLINVAR:250980 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 848404d1-16e1-4d8b-a65a-f52a3ab2842c CLINVAR:250981 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 757ad601-1294-425a-baf3-8fd69378aa97 CLINVAR:250981 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eca27813-6f0e-43e9-b244-260d30223ba1 CLINVAR:251926 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7d622863-9a7f-4544-8452-b4be569ea492 CLINVAR:251926 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0a4bdc71-6e6d-4116-b271-97808cb0158d CLINVAR:252330 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e11fa942-5127-4cea-89c9-8822785e62dd CLINVAR:252330 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 40e34702-61c7-482a-82c2-4854189ecce5 CLINVAR:1703212 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 313decd7-470c-4d97-94a0-eb5f365303e0 CLINVAR:1703212 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b5723a83-f5f7-4e52-9004-6075569d9565 CLINVAR:1703218 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c9319e17-317b-4056-a572-71f9f2fa48dd CLINVAR:1703218 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1467ce4e-a39d-462d-bcc8-d0616c4210ba CLINVAR:1703219 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 45701b26-2df8-42ae-ba02-4e6be5ce531c CLINVAR:1703219 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9a19eb99-95a2-47ea-a40e-90ea82f5aec0 CLINVAR:1703220 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1e5c0437-50ac-4d26-8dbf-ba65a3688753 CLINVAR:1703220 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e017be7d-7d2f-43da-a883-11ad37dbb1d3 CLINVAR:1703221 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8f148d00-d236-4949-99ab-04ed803d8b33 CLINVAR:1703221 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 94c6969a-d797-48e1-97ce-1f06a6748885 CLINVAR:1703223 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 226f965b-f9c0-4d11-83a6-2b407e3ba80c CLINVAR:1703223 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 18ad58f8-e294-41bf-ab6a-8fa49eda26d2 CLINVAR:1703224 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 66e93a61-8517-4d2e-8e5f-9ca48601e74d CLINVAR:1703224 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 43a4fa98-abfe-4265-a23e-012ac0e726c6 CLINVAR:1703225 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 21def778-c7a3-48e9-befd-27e2ffab544b CLINVAR:1703225 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 814a5042-210c-4b7d-b03f-ee9513ddcc31 CLINVAR:1698724 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ba889814-beac-4a30-8fa6-2bb6cb4e285e CLINVAR:1698724 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 13d18825-78ce-4ed5-b2b8-70348b6d1e65 CLINVAR:1703213 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 00017772-1ad2-4c17-b7ed-ee1d04dbc028 CLINVAR:1703213 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f8483a49-1f5c-4cff-ab44-88d99f0d1626 CLINVAR:1703214 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1d7d1cd4-6b80-4db9-bf09-e8842413d7ac CLINVAR:1703214 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0691f8fe-e6ec-43e3-b683-bf52ba4a9b81 CLINVAR:1703215 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3f713e00-5ac4-4cbc-ae8d-276a75e208ab CLINVAR:1703215 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3c6b401a-ac28-4952-9b44-bc38edb5df2e CLINVAR:1703216 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 71804ab3-8943-47d0-a26d-bdcaefd11a3a CLINVAR:1703216 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 89d2f100-4a41-4aa5-8c2c-776a6a185e35 CLINVAR:1703217 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen aa8071ae-1cc0-4698-a596-13ad95ce0765 CLINVAR:1703217 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fbb11f32-56c7-43f3-9430-0cdbe26d9624 CLINVAR:9712 biolink:causes MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2d5b3365-d560-4c21-a9a4-57d9cd90116d CLINVAR:9712 biolink:is_sequence_variant_of HGNC:7501 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e2245ab4-ef64-405c-a66c-d2a31392b534 CLINVAR:986458 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0aa168f1-40e5-4d28-b4fa-12e10dcd2d9b CLINVAR:986458 biolink:is_sequence_variant_of HGNC:7490 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c838d448-3496-45f4-a97f-6c9a3747ad55 CLINVAR:693516 biolink:causes MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 26fe0f99-f67d-418f-9dcb-25536e55901d CLINVAR:693516 biolink:is_sequence_variant_of HGNC:7461 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c80dc407-7fdc-46a7-94fe-455aed948f2b CLINVAR:9715 biolink:causes MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0883c4bb-19a0-4cb5-b3c1-46b90bd4afc3 CLINVAR:9715 biolink:is_sequence_variant_of HGNC:7458 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ebe3fb41-6b5d-445a-8c5c-10cf15f67147 CLINVAR:65518 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9f45fed4-6f3e-40da-b200-ea1281def5d8 CLINVAR:65518 biolink:is_sequence_variant_of HGNC:7455 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 24db2cfa-7750-404c-b6eb-0c9ab9da0bb4 CLINVAR:986454 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 46a516c6-9098-4f23-ad69-21c32d123a9c CLINVAR:986454 biolink:is_sequence_variant_of HGNC:7490 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 67ac454b-6268-448c-846c-51fcf5055af5 CLINVAR:11505 biolink:genetically_associated_with MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1d49790f-5d89-4153-855c-f3967bb65ff3 CLINVAR:11505 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4c44c297-a453-499f-8b3f-8b18a832d959 CLINVAR:929426 biolink:associated_with_increased_likelihood_of MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e1871247-9513-4ff6-8a1a-423e80983a96 CLINVAR:929426 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6abaf8ca-7a26-4c29-9f2e-f0b068c6e52e CLINVAR:489299 biolink:causes MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8fbe3b51-1408-4708-b254-68ae406f89a4 CLINVAR:489299 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 388aa8af-9c7b-49ea-bf50-0b4f4d64ea14 CLINVAR:643438 biolink:causes MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d6267b38-2d02-4c85-8bf0-b094b192be36 CLINVAR:643438 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eb31dd35-ac30-4c9a-b309-34b64c320c14 CLINVAR:487576 biolink:genetically_associated_with MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 972ac6be-ab9f-4ab7-976b-5be8eeb02606 CLINVAR:487576 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 289bbde3-0761-45b1-8605-17ac84a6dfe0 CLINVAR:143749 biolink:causes MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen fc14ffb6-d333-4d54-a759-cfaeef83bfcb CLINVAR:143749 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 170ba3a0-c05e-470b-bf38-19181e65bf49 CLINVAR:156615 biolink:genetically_associated_with MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c7c0e86d-baca-47dd-a64c-a1db121d404b CLINVAR:156615 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cffa14e4-cf80-451e-91ed-f854645bb875 CLINVAR:143754 biolink:causes MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d998d464-2d60-41c8-aea5-f320c6749074 CLINVAR:143754 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1787af3a-c3d8-49c5-8b4a-013940b6721a CLINVAR:133026 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen df8cabf1-dc3c-4f4a-86f9-998a712cdfaf CLINVAR:133026 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f2c480cb-1bfa-488e-9f71-3d984eec1b59 CLINVAR:650932 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5e3ee7be-f2a5-40e1-8f51-f9b603eb992f CLINVAR:650932 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 87a722d7-acf3-4064-8425-a2566590cfed CLINVAR:65996 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 65b8592e-f49d-47ed-8387-f9fedaa90c06 CLINVAR:65996 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d928df4a-fa4a-410d-93c7-0b8c4f6d9554 CLINVAR:803557 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ecb0a335-aed4-4b47-8ac3-5ab009bd7380 CLINVAR:803557 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2556b2da-3101-4687-b92d-8a0d620f76ec CLINVAR:133027 biolink:causes MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0ddd4a59-fdf1-4e89-a0c7-6419841e4357 CLINVAR:133027 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7da7e67c-5820-4912-9e34-d55614bc1a0b CLINVAR:590582 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7224f72e-7de9-4d58-9edc-a1e4c6deaade CLINVAR:590582 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bc6bb3ce-82d0-406d-8eaa-7eef5cda3941 CLINVAR:803555 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2c0de264-8aff-4842-b2be-b681a0344986 CLINVAR:803555 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 39eb5618-3fa1-4f9e-a42b-e9d02e257bfa CLINVAR:133203 biolink:causes MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 34a9a0e4-50e1-407d-bd27-f73da449533d CLINVAR:133203 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b895903f-e5f4-4dc4-9a13-078a1aeb63fb CLINVAR:803556 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6216a3a2-fe38-403f-8328-00b86af51046 CLINVAR:803556 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9fbebc0c-e713-4d54-9c3d-0c54b0df3624 CLINVAR:938242 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen fd62c1cc-af2d-44d2-a1a5-76bfeeb0bc20 CLINVAR:938242 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5d2105b5-b4db-46fc-8952-63a260dcf51b CLINVAR:4021 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen de2f1e36-6342-4fda-94a9-a819a56fda09 CLINVAR:4021 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e6734161-3b32-4365-9902-7b0f4d7e0632 CLINVAR:456391 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 65b8e0d0-ba84-4313-a1c7-6eadc9d8d2f5 CLINVAR:456391 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6ab483e7-3a74-4508-8064-4d37bb49fbf6 CLINVAR:286469 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 69d8a819-c9b1-4e49-8a0d-679de73d94c7 CLINVAR:286469 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0dfedc81-9d06-4b2f-88a4-941bf59f7f0b CLINVAR:371226 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 561c268d-46e7-494f-bfbd-5b7eb28050d1 CLINVAR:371226 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ca1c1476-4cc7-4739-88cb-c7e89025fb26 CAID:CA658795267 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 389f103a-0610-4a3c-baa1-cf8076bdea45 CAID:CA658795267 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 14d0d028-763d-4468-a8f5-75f22e9b518e CLINVAR:188786 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1e39e2fd-64df-4134-83ea-98dbf70d9b1f CLINVAR:188786 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 81221d00-033a-407e-a02b-60c986d9c677 CLINVAR:935199 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2ff4c321-cb9d-4b85-8c43-9d306bbf78d5 CLINVAR:935199 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 220e2453-7b1d-4f70-8271-30f1530e661b CLINVAR:392862 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4e8e73d5-78d7-4c6f-86b0-1f7e9f7fcaaa CLINVAR:392862 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 810c1ff4-2f09-4d0b-8604-148770a8134d CLINVAR:432217 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 778940a7-ecf1-4a17-ac99-8a263c555b10 CLINVAR:432217 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 231d2106-6c9b-4631-92a9-0c3c7f422d75 CLINVAR:552527 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen bbfc4f5e-b344-49cb-8c4b-77bbfc9e4b26 CLINVAR:552527 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e3fb96d3-396c-47ba-bb5f-99e9cbd34aab CLINVAR:843677 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3ee5b69d-3cb0-483d-8d43-dc263ac5c1fc CLINVAR:843677 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e9da7d6f-8cbe-4d11-9e6a-326cac601dba CLINVAR:554339 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6c12fbc5-6f0d-4e20-bfaa-142680c190ab CLINVAR:554339 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ef4204d8-8215-45d8-ac03-05489df5fe00 CLINVAR:856881 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9b2c8061-3154-45b2-8370-8c2f0ec95fd4 CLINVAR:856881 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 83ce11c1-a3a4-4232-88fd-502da0a59c32 CLINVAR:1073045 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3e540e61-177c-4450-ad84-e9afbb03afaf CLINVAR:1073045 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 62126e77-24bf-4586-b18b-16cc28335109 CLINVAR:618506 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 10c276dd-2d74-4f52-b426-e2a683662362 CLINVAR:618506 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4e0b0545-8539-4179-aa31-0f46ea1e5da6 CLINVAR:846935 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8e5d4760-4939-4f9a-937d-be3e773384a5 CLINVAR:846935 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b6c2b51e-32c7-4523-8466-f517715ac83f CLINVAR:1626 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4719bfc9-cc38-4789-956f-7bba82bfc78f CLINVAR:1626 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e768cd57-5015-455e-9f09-9260386c3ee0 CLINVAR:422995 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 16807b88-1e37-4f11-b020-c99f8f28c004 CLINVAR:422995 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 681aa955-db2e-48bb-bbc7-1a412145eb5d CLINVAR:932787 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 147108de-4ea6-4a4a-a93c-7121fa390704 CLINVAR:932787 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 86599a51-690b-4676-84ec-06d1aae154b7 CLINVAR:370686 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e1ef3e5a-64a8-4815-b196-34f404ae1a73 CLINVAR:370686 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 017273e8-9973-4b81-aaa2-c8ceba291100 CLINVAR:203580 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2fdba89a-5727-4b25-afed-43acd45e731c CLINVAR:203580 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8b76f789-8c54-4987-a45e-8f5dd551500f CAID:CA397724300 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7abfb6d8-1f8d-4317-9f74-c19db373f761 CAID:CA397724300 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 05d80fbb-4309-470a-97c9-ec0183366417 CLINVAR:166638 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a6b993aa-b740-43f5-b76a-bacd46958115 CLINVAR:166638 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 01a530f1-deee-47f6-8c49-e5c4b4d277e9 CLINVAR:557575 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 13f2531d-961e-4cac-94e2-da3681e0bb44 CLINVAR:557575 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6d7a3911-8e93-4c3d-8f6d-91a4638d1a60 CLINVAR:370482 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4ffbbd15-8f9d-415f-bff6-fa3837212656 CLINVAR:370482 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bfb291d4-f306-4f0a-94b0-1048148feacd CLINVAR:567061 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2ef769b7-6346-418f-98ce-f2bd4734ae7f CLINVAR:567061 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 60f2ae6c-ded2-465c-b2d2-69a0e9c560af CLINVAR:203593 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0e0131b6-a4f7-41fa-af2e-a9a9b8f7e87a CLINVAR:203593 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d481c2e2-76c4-433e-a7ea-10158eb62221 CLINVAR:581398 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1026f85e-bf3c-4c6a-8350-3a1311ad50ca CLINVAR:581398 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bb90f0d7-766d-4311-b02a-e0a00b8a63b9 CLINVAR:932848 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0a681cc1-ed04-4d7d-9acc-f614145937e7 CLINVAR:932848 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cef9ccc8-e677-4ada-8e03-f85280cd8700 CAID:CA8337657 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 975cca12-c249-456c-8b6b-707b88db3899 CAID:CA8337657 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8df46d30-6e3f-4a51-9f03-af28538ce77b CAID:CA397722888 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 59746ce0-eba6-4c38-8f1f-7ae6717afc54 CAID:CA397722888 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a6e4d94e-2e85-4a46-887a-7de1d31b304a CAID:CA397726273 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 05d8f5cd-0334-4346-8ebf-d06436ddbf33 CAID:CA397726273 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 36b62ab9-bc7c-46a0-be24-4c5b7af62fd8 CLINVAR:193541 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen da41a2f7-7fd7-4b09-9737-18fa45ccb8e5 CLINVAR:193541 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 63cbaddf-11eb-4dfc-8396-7783b29465ef CLINVAR:203570 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen aa63f93b-d5b1-4e97-b25d-ebecfe90e676 CLINVAR:203570 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b130f740-ecf3-47dc-9917-817f7a23f818 CLINVAR:254700 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d8ac67d4-3208-4856-83b9-b00445fb4332 CLINVAR:254700 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 26776f83-7f96-4cc7-97fc-4822659b8ffc CLINVAR:553583 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3a90d409-6980-4f3f-bdc9-3ad5d4af8dfb CLINVAR:553583 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 26949bba-ab0d-4ddc-9479-8cb970ae58d5 CLINVAR:216422 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 78b930aa-a8a1-48dc-b236-f5f9b6d36c13 CLINVAR:216422 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a08b7ea2-f3c5-4b64-811b-4a268e9e3808 CLINVAR:279878 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 708d4952-8fa2-4d86-bc13-b64fe4bf65b8 CLINVAR:279878 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4d21945f-d4fd-4974-9585-950be30dcde7 CLINVAR:420491 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3a880e3b-e630-43a1-93ea-fe113cd84e55 CLINVAR:420491 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen abd145b5-1a5f-4677-b8c0-8cc1f0b185a5 CAID:CA346124255 biolink:associated_with_increased_likelihood_of MONDO:0010986 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ca3fb8d0-4c66-4af2-af67-5cb852894d91 CAID:CA346124255 biolink:is_sequence_variant_of HGNC:8515 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b273c730-fbf8-4396-9788-42aa7b79e0f6 CLINVAR:370279 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen def63bdd-bebc-4e46-8d18-c2537541ceca CLINVAR:370279 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1aee0bc5-cbd3-402b-89e0-19b230dcfb4e CLINVAR:412802 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 26b44c9a-41d3-45d1-8cf8-cf176d4abdd6 CLINVAR:412802 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen baada838-ec00-40d3-b9d9-c764dc572fc7 CLINVAR:127676 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ad961e9f-962a-4275-92d7-3527df964a49 CLINVAR:127676 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e4898946-0eae-47c9-af17-eeeaa0e83113 CLINVAR:127682 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b0160a5d-11a7-4b74-94fe-6ee8bdc5fb0e CLINVAR:127682 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1ed17969-8b97-4007-87eb-92bdd5edf187 CLINVAR:234695 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d9f212ae-05b8-4b53-8f67-cd5498cf5563 CLINVAR:234695 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 63395196-925f-487f-a960-a453b66a3b42 CLINVAR:468719 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 523db73d-1212-49e3-9100-a2fbd6854ff7 CLINVAR:468719 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a064beb2-7ac0-4a49-8802-3ae247a3d35b CLINVAR:141717 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 43d6b2c8-3402-4f20-941f-ffcaa9f7ff1c CLINVAR:141717 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a77603f8-1541-4e78-ae81-c0670e54f128 CLINVAR:404144 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5af1c92c-36c3-49f6-acf7-964870da1796 CLINVAR:404144 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ce460717-bf0c-4b3e-86db-a16bf8988d7d CLINVAR:140783 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c0a8dc4d-71fe-4b22-95f8-cffc1630430a CLINVAR:140783 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0b15fffc-40a0-48dc-ad75-094dbcc93f1d CLINVAR:825730 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2aed1997-cad2-44d8-89fa-589068671a8e CLINVAR:825730 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 447d309b-4760-4672-bdb2-1467e96157b4 CLINVAR:428199 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8a7cad29-372f-4232-bc1a-f95fe474c55b CLINVAR:428199 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3198dd0a-1688-491a-aabb-fcf7f05c9dce CLINVAR:644390 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d8d84d36-a3ad-4a38-89f7-6c164ce3c453 CLINVAR:644390 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b4eb7919-03ae-40e4-b8d3-36eca597b920 CLINVAR:224542 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 96477373-c9d3-484a-af86-19f996c055f7 CLINVAR:224542 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 87654a9d-3768-470b-b1ef-dff2960f740c CLINVAR:619908 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0dd11a6c-99b5-4641-b62e-76a724a94021 CLINVAR:619908 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 25b522e3-c91d-4ffc-9499-4e58daaca395 CLINVAR:484605 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen bd731511-3557-49d0-ad87-71a4ceae9f39 CLINVAR:484605 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 23b86406-e5c6-43c8-b446-dc04cbec5964 CLINVAR:492332 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4d0b3999-5fa4-46ef-bf62-0f3e8cfdf6b1 CLINVAR:492332 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d93eeef6-876f-4737-9bc6-88c49a11983c CLINVAR:316208 biolink:genetically_associated_with MONDO:0012996 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ef5a0831-fa0f-4d27-800a-63fa78af3e3f CLINVAR:316208 biolink:is_sequence_variant_of HGNC:4175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ac538885-e2a0-421d-8cfd-1d18ac683b54 CLINVAR:589915 biolink:genetically_associated_with MONDO:0012996 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen cbb17da8-0ec0-4a69-a120-41e2ef355b07 CLINVAR:589915 biolink:is_sequence_variant_of HGNC:4175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f8091b2c-a7a2-4939-9ed2-293fc44b96f3 CLINVAR:598112 biolink:associated_with_increased_likelihood_of MONDO:0012996 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 534498d3-b951-4333-b8c9-183f63e0bab7 CLINVAR:598112 biolink:is_sequence_variant_of HGNC:4175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1c798c02-a2eb-4605-a442-737501d677bf CLINVAR:625953 biolink:genetically_associated_with MONDO:0012996 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen eb8e9ee3-511b-4c46-80f8-5393deb923b9 CLINVAR:625953 biolink:is_sequence_variant_of HGNC:4175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen caeef15f-3774-4ebd-ae2b-76a13c26b50e CLINVAR:570204 biolink:genetically_associated_with MONDO:0012996 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9df71d72-64d9-4ca0-be05-fab702fc6525 CLINVAR:570204 biolink:is_sequence_variant_of HGNC:4175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5ee867d4-833a-4962-abea-107c889ef4f3 CLINVAR:654184 biolink:genetically_associated_with MONDO:0012996 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e82df361-562c-49ac-b9f8-204c804a5e3a CLINVAR:654184 biolink:is_sequence_variant_of HGNC:4175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 15d723f6-b87b-4224-988c-5f5903d62b31 CLINVAR:316210 biolink:genetically_associated_with MONDO:0012996 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3226882d-c13c-4bba-acc6-239edd2b0831 CLINVAR:316210 biolink:is_sequence_variant_of HGNC:4175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cf6a1ae0-b141-4f09-aca9-505438aee736 CLINVAR:55918 biolink:causes MONDO:0012996 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e8dbedbf-e42f-4c08-a74a-4a8690ef8a6d CLINVAR:55918 biolink:is_sequence_variant_of HGNC:4175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 416d80fd-2776-45c1-b280-92078bcd32cb CLINVAR:205617 biolink:associated_with_increased_likelihood_of MONDO:0012996 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7994f277-2d0d-4bb1-8dd7-f79c9c2dffe1 CLINVAR:205617 biolink:is_sequence_variant_of HGNC:4175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 21808a12-ce0c-45ce-bd78-c8171935814e CLINVAR:55919 biolink:causes MONDO:0012996 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 00ea0fca-90c9-463e-bcee-39b42481625a CLINVAR:55919 biolink:is_sequence_variant_of HGNC:4175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 077bd0de-c0f7-40b9-9c2f-9c18aeba9190 CLINVAR:7302 biolink:causes MONDO:0012996 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3d1d8a38-183c-403c-9b8d-786afab9f74f CLINVAR:7302 biolink:is_sequence_variant_of HGNC:4175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ea76c8bc-52a3-48e9-b814-85e573637d6b CLINVAR:55921 biolink:associated_with_increased_likelihood_of MONDO:0012996 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ba70beaf-75a1-4a47-a729-8319eef76efd CLINVAR:55921 biolink:is_sequence_variant_of HGNC:4175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 25fc8b6b-814e-4219-9b36-36ade025ac41 CLINVAR:21299 biolink:causes MONDO:0012996 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen cf303e79-dab2-478a-9536-3a4fb11f50b2 CLINVAR:21299 biolink:is_sequence_variant_of HGNC:4175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 567f2c2d-af09-42d4-a66b-7cf6ad1447ab CLINVAR:572733 biolink:associated_with_increased_likelihood_of MONDO:0012996 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d064ec72-0ddf-4a55-b0dd-0d7eeb6e9e74 CLINVAR:572733 biolink:is_sequence_variant_of HGNC:4175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 937b02d3-5a53-4838-bd1b-48368c7d2e21 CLINVAR:21065 biolink:causes MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen afa47311-20e6-4767-b7d9-2fe401893c7a CLINVAR:21065 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 350820c7-038a-42b4-8311-4b490ec157ff CLINVAR:205596 biolink:genetically_associated_with MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e899713b-d253-4e30-9222-39f8179df565 CLINVAR:205596 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 73642d1c-9921-47a7-9ae9-060123c04fbb CLINVAR:544252 biolink:genetically_associated_with MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ad8888ee-ed5c-43a7-9bd6-e478ede44009 CLINVAR:544252 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 65875f81-f03d-42c4-b5f2-5461421497c3 CLINVAR:205595 biolink:genetically_associated_with MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9b2283fd-f803-46fd-a45a-507e3ebbbc68 CLINVAR:205595 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 39cb5acf-5fd7-4988-afbf-9d74360eeeb2 CLINVAR:205594 biolink:genetically_associated_with MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a0cd3eec-a1ee-4db4-b6e3-cfc5577ca651 CLINVAR:205594 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b7cb9cae-5900-4768-82cf-9bf907b2fee3 CLINVAR:445930 biolink:genetically_associated_with MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 03d856cc-070b-4bfa-b2ef-d99c8e8a0e44 CLINVAR:445930 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 581edf7b-942d-45a4-a6be-42f35d6e8846 CLINVAR:205569 biolink:genetically_associated_with MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 154fbc71-16d2-4cb9-ab7e-57285a3e49de CLINVAR:205569 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2fb5df41-db30-4547-9cd6-96e7010c70a7 CLINVAR:205592 biolink:genetically_associated_with MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4a9b6490-c01e-4aed-87a2-a9232315a3e9 CLINVAR:205592 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 499e6b83-760f-4e04-82e7-2d81a272590f CLINVAR:577478 biolink:genetically_associated_with MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 90aae23b-66ff-4e53-afa6-caf9762b8c71 CLINVAR:577478 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0c4e32a5-6dd4-4147-af82-41b1ccfbe787 CLINVAR:544261 biolink:genetically_associated_with MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2496a73c-d2ef-4408-8788-78079e31201f CLINVAR:544261 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 93d5f641-883f-479f-b666-1903e6b879d3 CLINVAR:205590 biolink:genetically_associated_with MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5e4536f8-624e-4340-94c6-0e3058d06b5b CLINVAR:205590 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 47242db8-8f62-489d-b8da-8d96d77aeb45 CLINVAR:205584 biolink:causes MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 50a6292a-672d-41fa-b4a5-7539bfcf5b46 CLINVAR:205584 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4a377280-fd1b-4bd9-8da4-99cf3d6ed305 CLINVAR:431959 biolink:associated_with_increased_likelihood_of MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 30e0fcd4-7b37-4126-9f89-c66ac58b6aa6 CLINVAR:431959 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e1b82f1c-a902-4cf5-9a1a-678630466dcf CLINVAR:495685 biolink:causes MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f67f24f9-24c0-480d-86e5-610394f14da1 CLINVAR:495685 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4799e5be-38ba-4608-b9ee-dc294da739a0 CLINVAR:205581 biolink:associated_with_increased_likelihood_of MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 05e637e5-e799-4cce-a4e5-8844669ab2ee CLINVAR:205581 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bbd3fd0e-2de6-4cee-b5e1-7048d2866f19 CLINVAR:513151 biolink:genetically_associated_with MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7d84f948-e83d-45a9-9cf8-d8e1a42a2556 CLINVAR:513151 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3a8ce0dd-8483-419a-a14e-0030fd40773b CLINVAR:225369 biolink:associated_with_increased_likelihood_of MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 661900ba-4199-4ded-ab84-21d2abf1ce8e CLINVAR:225369 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a5388079-e9d2-4638-b70e-03ad7ea979d9 CLINVAR:664123 biolink:causes MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen bf4851aa-6ef8-4238-b3df-a5363c8a708d CLINVAR:664123 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 242ffb43-711f-49cf-846a-f17861680847 CLINVAR:205580 biolink:associated_with_increased_likelihood_of MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6312562e-0f98-4680-95eb-18508ebdabae CLINVAR:205580 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 99949137-53f1-4698-a628-024c6d0e0bb5 CLINVAR:566624 biolink:causes MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3e685904-30e5-4bf8-9eb4-41cebb309349 CLINVAR:566624 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 009788c8-d313-4f95-b4fe-4b84207d20b6 CLINVAR:8302 biolink:causes MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 98dd0a13-6696-49d2-b26c-89da50ecee66 CLINVAR:8302 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6507e854-6ae2-4712-a698-d4e5440dba7d CLINVAR:21066 biolink:genetically_associated_with MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 98d25221-5210-42b6-9059-8681694d0c46 CLINVAR:21066 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ed9182b9-b7c5-4641-88f1-3101bda57cb0 CLINVAR:666596 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b22503e4-b65b-47f3-8ada-b6c03cdccba8 CLINVAR:666596 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bc608e65-b367-494a-835f-84cc40ea4e5a CLINVAR:666588 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen bfbf3539-5262-4d4a-8205-535161a29dd0 CLINVAR:666588 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1592e8bc-d3b6-4092-9957-3494e933f488 CLINVAR:392671 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 659ef045-3ffd-4026-a4f0-7621ecf43894 CLINVAR:392671 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 38b796d5-57a9-4c10-90c3-92c385672ace CLINVAR:533702 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 83388c27-3145-4306-bbea-e2e963a768be CLINVAR:533702 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2a041cd2-5bc7-4a70-b38c-8d9fd1de1ba3 CLINVAR:655315 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f10460cd-93e3-48c6-ae46-045ef5ee3cc3 CLINVAR:655315 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 92779115-b04d-4f4c-811f-e25309863fa0 CLINVAR:432463 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ee24e642-b120-4ea2-88f6-8b4eb44d7910 CLINVAR:432463 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen de4ee2fc-6327-40e1-b8b8-cdaeb0dae85c CLINVAR:465148 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9a5cc898-d186-491f-bd26-7b8b9736dc5c CLINVAR:465148 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 293d7eed-22e2-4086-a1a6-90a3b7754fc6 CLINVAR:643295 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 09adf6dc-9b28-491e-b444-3ea827c5f881 CLINVAR:643295 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8bf17be0-174e-4cc8-b75d-1c098833e25f CLINVAR:650071 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a0614556-3306-432b-bf80-e5bdb631b994 CLINVAR:650071 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 15679b27-d65a-49d2-9c88-17809a8908d6 CLINVAR:572616 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8fdb21e9-ee6a-4ffc-93fa-7b64f8b60d77 CLINVAR:572616 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f8e82607-c800-4fbd-8e05-682ffcb53928 CLINVAR:410221 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1071f7f3-b5cd-4522-996a-65ce3b93f419 CLINVAR:410221 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8b5d749f-43ba-4863-89ff-f42c2aa8c6c8 CLINVAR:658337 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b6f575bf-8a01-4b6a-97f4-76f544befef5 CLINVAR:658337 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 83077ff2-fe32-4655-b3da-ad53a2a9606c CLINVAR:21448 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6889301a-9321-473c-a017-04748b712186 CLINVAR:21448 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9183d526-bc93-46da-b5e9-5c0840a991ca CLINVAR:652028 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ac895886-0b01-42ff-95fe-4954f2c7c106 CLINVAR:652028 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a9c2b012-bed0-49d8-9e5e-8bb569ef2b69 CLINVAR:449366 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 184b2581-ff5e-4afd-939e-e895d5af1827 CLINVAR:449366 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c6ed7325-135c-4edb-99ed-99eb33e35e78 CLINVAR:635461 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 10e831ef-3ff8-43fd-b7d3-7be3b898d99d CLINVAR:635461 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 457994a2-3506-4f0b-a0f1-0c13fd14f1ea CLINVAR:452407 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 12625bfe-6c17-4323-a29f-8a5e570d36c4 CLINVAR:452407 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5c96d3c2-3a7c-4ad7-ae2b-7dc7011116c1 CLINVAR:416002 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6120405b-5531-41fd-91ff-83c5f807c8a9 CLINVAR:416002 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8d178842-b2af-4f01-900d-87ac3ce1e21b CLINVAR:633583 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4b9dd5fa-19a2-4fa4-aae1-ce8ce0a0baf9 CLINVAR:633583 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b5883077-1f02-4351-a7d8-d969faba1f82 CLINVAR:586615 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2765fc31-ad79-4da7-9674-52ff75a3af0d CLINVAR:586615 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 000905a3-2ce6-4d37-9317-0e14c9e86f9c CLINVAR:21017 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 84a0b630-2dc8-4c75-806c-2c94168ae24a CLINVAR:21017 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bac263da-dfca-4c22-8c8d-b1e7c2e617ac CLINVAR:92276 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5ca55294-0a01-440b-8f53-215402201c9b CLINVAR:92276 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 177d7016-5b78-4330-8a11-f9c4a3b3dcab CLINVAR:986472 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c35d13e7-fddf-4595-b111-e4a9c92bd6c3 CLINVAR:986472 biolink:is_sequence_variant_of HGNC:7414 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 74777a5f-ebb5-44d3-b9fe-4d5fa06e6d4a CLINVAR:9632 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen fa4c8442-3dfe-465d-855e-706bdac1934f CLINVAR:9632 biolink:is_sequence_variant_of HGNC:7470 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c0a451ef-e0fa-438a-9b79-33d6de32b7c7 CLINVAR:9606 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 917f3d14-9852-4b48-9860-f0f0a1dec992 CLINVAR:9606 biolink:is_sequence_variant_of HGNC:7488 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3850c386-fea4-426c-b3fc-5dd00c3c1bc7 CLINVAR:689875 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 70b48424-e834-46d0-84e6-75efa4302643 CLINVAR:689875 biolink:is_sequence_variant_of HGNC:7488 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 57dfcf82-7d5c-4de8-840f-312f0ca590b0 CLINVAR:9556 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ee79b9c2-af9e-4536-9837-35e40b528e7a CLINVAR:9556 biolink:is_sequence_variant_of HGNC:7501 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 99b5c553-cc2c-41eb-97a5-92db55f5c016 CLINVAR:223247 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e17dc821-528b-4291-9e87-d0833989c243 CLINVAR:223247 biolink:is_sequence_variant_of HGNC:7490 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 517df516-4792-4c00-8344-fe6d080655d8 CLINVAR:9707 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 523aec72-f913-4aa6-990f-68d90955303c CLINVAR:9707 biolink:is_sequence_variant_of HGNC:7490 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a2ee8489-77a3-4011-82db-e9a28f694f1c CLINVAR:9591 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c9714b31-6bb6-42fd-b459-9e0c0dd24740 CLINVAR:9591 biolink:is_sequence_variant_of HGNC:7490 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a6db24c6-b869-4b54-9012-fc6b96a4765b CLINVAR:102551 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 53c7ff0d-da67-4e77-87b3-ad8134c1bd9d CLINVAR:102551 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen df355ced-7aa3-4d52-91e8-1690f64bc8ac CLINVAR:102652 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ce0a83d1-b18a-4e1d-8953-43ebdce4d3f0 CLINVAR:102652 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 39270ed8-b3d8-495d-94ed-11cf6ae5df70 CLINVAR:102663 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 64ddaee7-75ea-4940-92f7-cc8405d3c775 CLINVAR:102663 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ea3ed0dd-9651-47b9-9ebc-450b565937bd CAID:CA16020977 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f53a838f-d0c9-43b4-99ba-a5998f1186bd CAID:CA16020977 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4f12ece1-c409-42f2-8aea-ba01b0fbdcd7 CLINVAR:102718 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4e3fe382-2f7f-4134-8feb-f6ebef0a8e46 CLINVAR:102718 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c006951f-c666-4e83-a5e0-abb48b58c7ec CLINVAR:102664 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen dae67ed8-0653-4549-8e2e-c13585adc5ca CLINVAR:102664 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 84939421-8dee-49f9-9344-baacb2259cd2 CAID:CA386493311 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c003351f-06fd-4a99-a77f-841394a0669d CAID:CA386493311 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5d0266b8-7c0c-4a87-858a-08f87cfe80aa CLINVAR:657348 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen bfd2eaae-dc35-4645-9ab3-03642bc62f80 CLINVAR:657348 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7026f36d-56f3-40e8-a6b3-0d9eb57fff93 CLINVAR:431990 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4f70feb5-fc84-41d4-869f-0515071050fe CLINVAR:431990 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a359a2fd-3bed-4199-a389-189f8ebdd7ee CLINVAR:92483 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen dfaf6608-c2e4-4c14-b0ce-66979de46a78 CLINVAR:92483 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 06f70ed7-17d3-46ae-b5df-ebb6d865b0c4 CLINVAR:498117 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 58ab80fc-59e7-4faf-b376-4febdc56c35b CLINVAR:498117 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 28f33ecf-f9d7-4caf-a312-b1ff7e6252d1 CLINVAR:370130 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d87e5cc9-426b-45c3-8aab-f83d0ad59189 CLINVAR:370130 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a8e900fc-be6a-4c16-ad18-63ff6c85189d CLINVAR:933090 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4d2358cc-f94e-4acd-a8e9-92cef5a2165e CLINVAR:933090 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 55e5de8b-b31d-4262-ba6c-97010772ce24 CLINVAR:690461 biolink:associated_with_increased_likelihood_of MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 17920203-786e-47b0-90ea-ca458528eed4 CLINVAR:690461 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 97043435-6a19-42f0-9e06-07587c42987b CLINVAR:1722520 biolink:genetically_associated_with MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 83040f59-fb24-4308-ac3f-71e48d0df4a7 CLINVAR:1722520 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 51e22305-3fee-40ff-b481-6a226fecd8b6 CLINVAR:479636 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 751e469e-06de-4e12-a741-f0fb5389cb91 CLINVAR:479636 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ee30c7bd-25be-405d-a3ed-e2ac0b94fe26 CLINVAR:429125 biolink:associated_with_increased_likelihood_of MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9541e2dd-9ad5-4b89-8cf5-a411b50d79fa CLINVAR:429125 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6c4d8061-e69e-4873-9099-fe7ec7fc5604 CLINVAR:824918 biolink:genetically_associated_with MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fc521167-b337-45a6-853e-bc8709d12be0 CLINVAR:824918 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 098b9f8c-a48b-4bfb-acd8-5a353ce0da48 CLINVAR:1722521 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3dbb2088-ce69-443c-ba0f-a537a36624bc CLINVAR:1722521 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 11d6f2e1-4203-475d-99e4-019c40a360bc CLINVAR:1722522 biolink:genetically_associated_with MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0eb600f5-b2be-42c9-aae4-ed18724b6901 CLINVAR:1722522 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5b7479ac-4243-4981-a667-1c136d845821 CLINVAR:825925 biolink:genetically_associated_with MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 396b7e47-8492-4350-bebb-bb49da30f995 CLINVAR:825925 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 21968b01-cdba-42aa-a39d-912750e5aa14 CLINVAR:653922 biolink:genetically_associated_with MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0735e3e1-1f00-4a34-91ec-da91f08b94f3 CLINVAR:653922 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1a4c3d01-a2a6-4b65-aa1b-a0b0b582b3c6 CLINVAR:933126 biolink:genetically_associated_with MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7ca3b735-ce66-4e67-94b1-b2e9556ec4c1 CLINVAR:933126 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 867f6aab-e05b-4c3c-849f-8a806c473c6e CLINVAR:825934 biolink:genetically_associated_with MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f611a9a1-677f-4c82-af61-fe58f6a26242 CLINVAR:825934 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6084e625-f363-47ea-b982-ab219ea695ce CLINVAR:1723160 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 63c0b253-2795-42f0-afcd-148ac5cbdbb8 CLINVAR:1723160 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5dcc8b46-1483-4d2f-a0c9-4116df8b80d2 CLINVAR:1723169 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d683b7fa-b4ed-4439-bfa9-1dca94ea8b8e CLINVAR:1723169 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bd4d7dd6-0fcf-49a0-92fc-a365e011ef01 CLINVAR:1723171 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f7d26b25-c3bb-4f84-be87-85071fc015d7 CLINVAR:1723171 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cbbd4456-18e0-426f-af31-87bc69712869 CLINVAR:1723172 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0cb3aba5-6637-4f0b-9f51-830d23f556fb CLINVAR:1723172 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3d5eec98-7b41-4081-8734-43e49f641a6f CLINVAR:1723174 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 945fe608-1cc1-4849-9815-a8ac5b219dc4 CLINVAR:1723174 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 01a0ae90-6dc5-4f6c-94ad-c682fc8e8cee CLINVAR:1723161 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fe7b11ac-93de-45d5-8f1d-d9c3b8821cee CLINVAR:1723161 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9e6039e7-cb9e-49d5-8d95-56fd2631861d CLINVAR:1723162 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6a542c38-9c28-418f-95db-b25eab39d74c CLINVAR:1723162 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fe58192f-fdbe-40e5-96ec-b527e36de3aa CLINVAR:1723163 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d98a1212-f485-4f27-a16d-d0f18dd6ff60 CLINVAR:1723163 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5656b2c1-237a-464c-be99-ea1d312dc87c CLINVAR:1723164 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 510de4a8-172d-4843-9796-3f0f48316ded CLINVAR:1723164 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1014f7b8-dfa5-4908-bd18-0e55cfb442db CLINVAR:4036 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 893c774e-c466-4f89-a80c-7d631c6fe64a CLINVAR:4036 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4f162c81-7479-42f5-8826-4ee0112b217b CLINVAR:550327 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9780ecfb-2cba-4422-a325-e5e9093d5765 CLINVAR:550327 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 252abe77-93cc-406a-9883-5bacd27bf867 CLINVAR:526518 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8cddd4ba-6095-4e0b-a94d-1c5d7828fdc7 CLINVAR:526518 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 31bf9dea-2cd9-458b-8a7d-62d553915bc1 CLINVAR:289361 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f65a7671-f71e-4d89-9f15-d5e355948b37 CLINVAR:289361 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2f1cc82f-f366-4fa2-8b9d-ffeea9e2ba33 CAID:CA915940949 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen db6ecdda-1179-4872-aeb3-51fd67ecebfb CAID:CA915940949 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c8b3e60c-2552-4ca2-94d6-1ef1b48d2290 CLINVAR:200100 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7cb9a2ad-049f-4762-8484-cc00397af7cf CLINVAR:200100 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e300df65-2a4f-49aa-8716-5873f4d46033 CAID:CA392317923 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f8f5aee6-a822-413e-8f14-2aa40a7d447d CAID:CA392317923 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 70a01ad5-73a3-4479-b46b-ae424f735ef1 CLINVAR:200041 biolink:genetically_associated_with MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2047a43f-b79b-40e0-bd6a-cb7a5c46c87e CLINVAR:200041 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1d618593-e819-4425-9b70-e2bc08a26468 CLINVAR:1325453 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5ce22942-eda6-486c-844d-641f96139b91 CLINVAR:1325453 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 77b4610b-f319-4856-b223-798707b0ba30 CAID:CA392325153 biolink:genetically_associated_with MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4e9c6e0c-5c9f-4934-b4e1-f7eb4c19c699 CAID:CA392325153 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 691daaa9-4d08-40c1-93e0-a414bcf22c17 CLINVAR:549232 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6c5afc32-f312-4b6a-a44b-14cd78ccf494 CLINVAR:549232 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1a9e00cf-d4d1-4081-808b-11e01b3088a5 CAID:CA915940948 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8ea82dbf-966f-4947-998c-9c3775d39a0b CAID:CA915940948 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a8f2e095-fe60-4aef-8715-45194e18684c CLINVAR:161245 biolink:genetically_associated_with MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 333d9587-319c-4586-a7fe-60e56145c6d3 CLINVAR:161245 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 470a922f-742c-49e8-a686-26843672f2a1 CLINVAR:549394 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 66ea92ca-e8ba-4482-a167-ef2aa1fbae25 CLINVAR:549394 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cf1aebf4-6d0e-4716-8065-1c6a2743519d CLINVAR:200064 biolink:genetically_associated_with MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7002d5e7-161f-4cfd-a688-ac9a6c5fe410 CLINVAR:200064 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 40733e4a-1338-46d2-8802-feb62abdc50c CLINVAR:143490 biolink:causes MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5b7aee74-6ea3-4b35-b6c1-78431b1cae31 CLINVAR:143490 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d342ea30-8374-4e2c-8f09-dbaaab2dfc94 CLINVAR:143549 biolink:causes MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7c8cd2c5-1973-4495-9463-883e0adcc8d6 CLINVAR:143549 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen db9e0e84-ba06-45c5-b885-f8ad8c5cb736 CLINVAR:143550 biolink:causes MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c6db55e2-4115-416a-bd6b-c57415cb6415 CLINVAR:143550 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen afdb49c6-8336-4040-9ce4-4380c2547394 CLINVAR:143560 biolink:causes MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7535f3d0-440a-4373-9579-851973c763d0 CLINVAR:143560 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 46c915e0-56ee-4287-8474-bd12daffb9dc CLINVAR:143585 biolink:associated_with_increased_likelihood_of MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 03f74f78-5372-4b62-b28c-15c2aedc3398 CLINVAR:143585 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b9d50683-caae-4742-b9e0-6a9cde5a7095 CLINVAR:143589 biolink:causes MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 95820f8d-279d-4b18-a249-fe998db36b29 CLINVAR:143589 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b6659601-7efd-45f1-99a1-080187b50944 CLINVAR:143742 biolink:associated_with_increased_likelihood_of MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e45ebf7c-85d6-454e-968e-7cfdc103b591 CLINVAR:143742 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8fcfee5f-27d8-4de6-bbd8-b72eeb6ab7ab CLINVAR:143340 biolink:genetically_associated_with MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f491851a-085e-46c4-96f0-8793eda1ac23 CLINVAR:143340 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b2e34413-31e3-49ac-bab1-e26e87657970 CLINVAR:143656 biolink:genetically_associated_with MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2017ae8a-4489-4c4a-8288-9779ca6a4381 CLINVAR:143656 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ee710d84-c953-4d21-b0ea-fe3fde4f7bfd CLINVAR:189732 biolink:associated_with_increased_likelihood_of MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ac120d50-4d4c-45bf-aa26-4f7d12ff26df CLINVAR:189732 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 29463177-d575-42ad-87f6-28bff20f1143 CLINVAR:189754 biolink:genetically_associated_with MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1292588d-498d-44a5-b434-428c982dba60 CLINVAR:189754 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5061066d-1ac2-4a50-9d15-74701ad5decf CAID:CA399802454 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 784c999c-a0ef-45d5-9161-6482ea84a51d CAID:CA399802454 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eb54d685-90ab-4a3f-a679-4abf595f93fd CAID:CA915940214 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6b0b2805-dda7-4369-a2f9-c479ef485e7b CAID:CA915940214 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f0bfb1fd-675a-4358-8f75-b42c507dbb2a CLINVAR:1684418 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2769450c-96de-4ec2-a745-f6ef62f9ec7d CLINVAR:1684418 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 40cefb91-3c38-4aa0-aff6-5bd8ece6538e CAID:CA915940264 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d87c32f8-35a5-4883-a451-7fb9ea67e839 CAID:CA915940264 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0d731ef3-0a5c-4bc0-b44a-1ddedfef3cbd CAID:CA915940225 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b6deb85a-604f-4424-85f8-21e44fad6146 CAID:CA915940225 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0bf7d9e2-c7c6-4e2a-9f4a-c74f0e29ff30 CAID:CA915940263 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 72ef25da-39d3-41ad-a80f-d3e365e428e9 CAID:CA915940263 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 20d635dd-dbe7-4b89-bc6b-aa0e1ff2534c CLINVAR:1879057 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2c392a34-c969-4f93-a9df-f50211a453d9 CLINVAR:1879057 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e5fc5384-0fa6-48f7-9673-cd67db19e455 CAID:CA399805008 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0124956f-648b-41cb-b3bc-455440ec66b8 CAID:CA399805008 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 04e4294b-0f4a-466a-8b5d-80cf391b29d7 CLINVAR:1703874 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e7441d81-f0ee-436b-90c4-39f027e3414b CLINVAR:1703874 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 815e203b-a704-49d1-8ebd-e4ac6f50b576 CAID:CA8603099 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0e024ccd-fcf7-485d-a600-dd1438c75c12 CAID:CA8603099 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6fdf7a25-52c5-4b42-99cf-4d3df55cfde7 CLINVAR:13563 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a69d603b-961a-43be-a6ea-6b3ec064fc16 CLINVAR:13563 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1325797e-676e-46ca-8c9c-42070f007852 CAID:CA915940805 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5a68ccaf-4b91-4326-9383-087e1275c68e CAID:CA915940805 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6c0b73f5-ebf6-4164-be01-709bd4fae42f CAID:CA915940766 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 44aa751e-9e3e-4f9c-b71b-39fb77245ff7 CAID:CA915940766 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eae2f268-88b1-44b9-9c9e-c20401651c5c CAID:CA915940767 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1c405f93-91f8-49f2-932a-7daefa6fc64f CAID:CA915940767 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b8e7f47b-de7e-4bda-b716-3a9b952b1dff CAID:CA399804480 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7f9c6865-160b-47c1-9a9d-192771270525 CAID:CA399804480 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8bca2025-d139-48e1-8a4e-8dbcd784c480 CAID:CA915940267 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2a08b5bd-e8b4-4678-b69d-b5e00fe2808f CAID:CA915940267 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 171bcdff-30c6-4f81-ae8f-71a9eca3e3f1 CAID:CA399798192 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3d320fcd-955b-4ffb-92cc-c4e99c704c4c CAID:CA399798192 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 095d0fd3-a804-4960-9777-e8cf6e9129cb CLINVAR:1703869 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen fe44e69d-bc6e-41f5-95d7-ce87d2d9a9e0 CLINVAR:1703869 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f5711713-9f78-4ca6-9d6d-ac0f523095a7 CLINVAR:1879045 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e5e495a8-aff5-47f9-ba6b-92c5abf336e0 CLINVAR:1879045 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8e460a69-4a98-4393-bcc4-5e84d4d56278 CLINVAR:1879044 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b8483263-3f0e-442f-a64a-75fc0d941d45 CLINVAR:1879044 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e3ce5832-123c-42b6-b847-0543f65a7ee6 CAID:CA291224896 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8764991d-60a7-4bb8-b855-f0b7109f9acc CAID:CA291224896 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 837d3451-4035-4da3-927b-528ce17d3903 CLINVAR:1879042 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen bdc9771b-5bca-4176-bccf-349826ccebc7 CLINVAR:1879042 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a6e3ef89-fa6a-478e-a0a0-c90c6f14b94e CAID:CA400031679 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9cda73a7-ca20-44d2-9d57-af119cf59d4b CAID:CA400031679 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c00ea6cb-dde0-4825-ad58-6c595fc6198a CLINVAR:1879040 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b0d095bc-f578-4290-92ec-494f26e5bc6e CLINVAR:1879040 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9445f4c9-34f4-445c-b54d-db1f6d038a25 CAID:CA399806223 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6de8e45e-c2bc-47c3-a8ee-070c58324f2b CAID:CA399806223 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2589f1ec-8007-4fa5-aa78-137065ce4802 CLINVAR:1879046 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 93e21ac9-ce12-49c0-9d98-8082ad594927 CLINVAR:1879046 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6b6c73d9-5ec4-4937-85e1-9cc15bfda59c CLINVAR:1879048 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 46da8e1f-6459-4496-880f-45124b5e3d65 CLINVAR:1879048 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c73f9a66-97ce-45ba-956e-dda0dd5a1c8f CLINVAR:1879039 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b36318dc-b7ac-4e4c-bb7b-4811d8b93656 CLINVAR:1879039 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0f090468-133f-4888-bb14-ab33104276d2 CAID:CA399787972 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2c5e7613-00e4-4ef1-b779-2dda03841e35 CAID:CA399787972 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f14b8170-645d-47ab-a65d-76a189d47346 CAID:CA915940334 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e76d03b0-4004-4744-8c75-bc661a58d5a9 CAID:CA915940334 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fb676f88-3c2a-444c-a320-c908a3763c87 CAID:CA915940374 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4f788e26-2090-44c3-a8a1-9d8dd00ad5e0 CAID:CA915940374 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 580a6891-84a1-44b4-acdc-2ae5f0d4bc1e CLINVAR:1879034 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b99e9e75-9592-4c92-818b-bebf2a24c069 CLINVAR:1879034 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b062d642-a6ea-4690-8ada-73293e5ea6ea CLINVAR:627151 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5a5bbe72-eefc-4af9-949b-b0665e4a09a9 CLINVAR:627151 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e19ccaa0-6abe-4533-8405-ec8723cc282e CLINVAR:1879033 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen dd78840c-624e-4043-a66f-d0af6b5f136e CLINVAR:1879033 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f1b3e409-f447-490d-a8d8-91894a33faf2 CLINVAR:1879032 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6eac8671-4f65-42c0-a1df-6aacf89b0790 CLINVAR:1879032 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1932b00b-ecb1-40f4-968b-09f5bb28c33b CLINVAR:977126 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d130833c-4efa-4c05-87aa-dbb4d3985a8e CLINVAR:977126 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 549121f9-df9f-49c2-a3b1-b0766c51afcf CAID:CA915940788 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6050ea48-df19-43bf-9678-b9f94cc6849a CAID:CA915940788 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dcceadad-0812-40e7-a81e-1d1994895afc CLINVAR:1879030 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2f90bf1b-fe37-4d02-ae19-48b1259e4742 CLINVAR:1879030 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ed2a5de0-f02a-4394-a0ea-f4ff93773b88 CLINVAR:1879029 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen aab689e5-4829-4a02-8f6b-c6d1e9661f73 CLINVAR:1879029 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8ffd894a-058f-4288-9b14-a39475b88337 CLINVAR:977131 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c1a01d36-e7d9-4880-987c-a4ff3645a85d CLINVAR:977131 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8bbe181a-1b9e-4b2c-b593-3aa7275ad0da CAID:CA400031690 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 57581a0e-ee2a-4f12-a718-704b585576b5 CAID:CA400031690 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4161a689-a9b2-45b4-a32d-5a3be45a68d7 CAID:CA2573131753 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d26bfcab-351e-42f3-be99-d07c004be2db CAID:CA2573131753 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e5d736f7-bdd9-429c-9529-fc26728ab7f2 CLINVAR:1879025 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f93d9ad8-ccad-4f3a-ab1d-c7e9bb68cfe3 CLINVAR:1879025 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9bb6a77b-5e55-4991-90e2-35729fa05f6e CLINVAR:1879024 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3ddbbb53-8f79-49eb-aa8e-bc3ce3cf8da5 CLINVAR:1879024 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ba0d4b91-af0d-40f5-8849-14624f22126c CAID:CA2573131754 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 74a55370-b109-4a63-abc9-cdb0b1b2b34b CAID:CA2573131754 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a45e6eb5-fd7c-40d1-8dcf-b6baa84a57e6 CAID:CA8603039 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 67aa9e23-4a47-41d8-ba66-176b9dfb160e CAID:CA8603039 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 88c6b6c3-78fa-4842-a040-7637d4c5cd7b CLINVAR:1879022 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8b35376a-f42a-468a-802e-64c6fe37cc08 CLINVAR:1879022 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c5f442d9-1ae0-4d6b-8ade-feada8d81252 CAID:CA915940806 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 07b3a397-d36a-4818-92e4-f0685805ae66 CAID:CA915940806 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6824755b-be85-417c-a52d-5cf8f551bf77 CLINVAR:1879020 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 39bf69a1-2429-4aa8-94d6-4a9796b446e2 CLINVAR:1879020 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2a17b74f-a80e-40b9-9630-e039892d4c8e CLINVAR:1879019 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 889710ac-feb5-4231-b3fb-e2aca59cb15e CLINVAR:1879019 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e65c968c-c256-4e7a-94b1-88a088c70f6f CLINVAR:1879018 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 33d21642-8779-46fe-be95-0c35c1ad08c0 CLINVAR:1879018 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ff2185d5-8ba2-457e-be87-9422ff9c61f1 CLINVAR:891157 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1533e1fb-3e41-43d5-b0b7-5688ca5e9e3a CLINVAR:891157 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4001ab2b-5456-4166-92ad-3248cca93811 CAID:CA915940222 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 57047021-ffb0-40f1-b69e-b4253088db79 CAID:CA915940222 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6f879aa2-9491-4e6f-9d5f-514275ba79c7 CAID:CA8623068 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2a053974-17c3-4764-92c9-a1d4739cdcb3 CAID:CA8623068 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 48bc472b-3d60-42d1-b342-86036f54b698 CLINVAR:1879014 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 60e99ba1-0c6f-44db-b3b7-d65a6b748b95 CLINVAR:1879014 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 41d8c886-4f8a-4e16-a6e5-aa6c97398dbe CAID:CA399802478 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9ca3fa41-501c-47c2-aa38-18dbb3c23aa8 CAID:CA399802478 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a90c4f40-73ab-4063-a04b-340a470b6ef3 CLINVAR:1879012 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0f3ad517-ec94-4f37-9d9d-442c4a712f52 CLINVAR:1879012 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2513a994-f066-4f01-8e28-d7b9f48050b7 CLINVAR:1879011 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 37f637e2-ab63-417f-82ab-5eaa7c63c26b CLINVAR:1879011 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b53584e0-0359-49c1-8f51-65071491e108 CLINVAR:1879010 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3a54aa82-268a-4cbc-b300-6d01284610f2 CLINVAR:1879010 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bfb72b4c-1902-4559-b963-a28bad1354b3 CAID:CA400024958 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3902c9d2-4ebc-4900-abd9-49a2dbafabd3 CAID:CA400024958 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 67f17ee7-181f-4fba-8d56-a8549d212258 CAID:CA399806951 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e39fe64c-1afc-4831-b592-d9b6e82c068d CAID:CA399806951 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a83e358b-512f-4cff-a313-2469f91f7f8e CAID:CA915940223 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 82029635-76aa-428a-8c75-b11288405354 CAID:CA915940223 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6fe5e880-a430-47c4-83e3-2f06a93dffbd CAID:CA399792888 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c94598ee-4c89-41b0-8e65-9a6bff124682 CAID:CA399792888 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 702b7d40-2e21-4f48-82be-c76fac168caa CAID:CA400028645 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 83e80772-c708-41fb-af42-5de0cb413b1a CAID:CA400028645 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 807f2453-dd36-43a5-9f3c-7c863c20302b CAID:CA399802559 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7e26150a-394b-4768-b9e5-3c09f3bf1e30 CAID:CA399802559 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bcda4661-9949-4e19-ab1d-b15d6bcc22e5 CLINVAR:100811 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 79aa46eb-ac59-4912-a598-24217f07f089 CLINVAR:100811 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e3025dc7-d354-42fc-869f-b456ec67793c CAID:CA400029664 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9a29424a-2094-4289-81b2-3eb4f6353113 CAID:CA400029664 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 604e6198-8132-48a9-912f-a5e04771b249 CLINVAR:1879008 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 13ade157-163b-420f-a470-df7fbe1078e8 CLINVAR:1879008 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 67593d14-3ccb-4589-8533-3016e0bb18de CLINVAR:225919 biolink:genetically_associated_with MONDO:0012996 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0e8a4b25-2c16-441c-9efe-3ec820a53495 CLINVAR:225919 biolink:is_sequence_variant_of HGNC:4175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a3cec5de-74ac-430a-8f47-ff58d4c61fc7 CAID:CA6748745 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7ee5e248-2ed4-40b8-9fcd-e7de8c5a7529 CAID:CA6748745 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4eb13b59-2aa9-418d-a410-bdd878af0841 CAID:CA386299735 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7d23fbe9-8df0-4df3-a032-02b9e3f3142c CAID:CA386299735 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen caeefaae-4378-4671-bedf-423866685f63 CAID:CA386297078 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3d4d289d-c65a-4001-b070-ff1b8af726c7 CAID:CA386297078 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7a9db383-fe06-4c06-837f-4dcc0acb261b CAID:CA386492906 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6cbb3363-f011-4fae-a2d0-df9a16de6fca CAID:CA386492906 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3a1a1dbf-e3f2-4786-8e9c-3eabce599fbc CAID:CA16020960 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7982fcd4-0cdb-40d4-8821-eb13702a3d3a CAID:CA16020960 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9dec332f-90dc-4721-9555-a99609faad6c CLINVAR:102564 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 65e1a4b1-4f73-4e82-a4dc-8d2a9630e15d CLINVAR:102564 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5cbe836a-5614-4f64-97df-ae3eed190f99 CLINVAR:102653 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 004d1354-cfe6-4e85-8e05-f8498cbddf7b CLINVAR:102653 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3df2625c-2761-4b4d-bc41-6bfadeff4561 CLINVAR:102574 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5c247a0c-3378-4955-aa92-8ffe2c019865 CLINVAR:102574 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ef983d27-b583-496a-9f31-f9c23567830f CAID:CA481331323 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4d9b3c81-08fa-4d08-8ef1-6adf96dead75 CAID:CA481331323 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0a491a01-91ac-40dc-89bf-98353a1a5094 CLINVAR:102603 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen feb56b1e-ee7a-4f8c-aa1b-290e37859cf3 CLINVAR:102603 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6a3fa6d8-8767-4cb7-a0db-16dbaf9a1880 CLINVAR:102730 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0500e2ce-9c37-44c5-84d9-1dd24218a440 CLINVAR:102730 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen adb73dc9-7e4f-4f21-a5f9-acccbcf68a17 CLINVAR:417917 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c270b748-a04e-4c12-9b84-5bfeb223cf3c CLINVAR:417917 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8d05863c-41eb-439b-a091-b035500717ec CLINVAR:854401 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 169a96dc-7921-4af6-9466-9ef133d63554 CLINVAR:854401 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3a7100df-4b93-48b1-a81e-a8d5e3c62712 CLINVAR:474895 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0d599f8d-ef44-417f-9966-c0d35c84ed25 CLINVAR:474895 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d8f722ac-9993-4432-a562-e84b10f0f2ec CLINVAR:971356 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 281d63f3-24da-4566-b737-75bae6ca44ae CLINVAR:971356 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 48de298d-e5cc-4b93-91fc-14877dbf0c6c CLINVAR:555644 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1ed2050d-94e7-48ce-b74a-8dfd9b0a7cda CLINVAR:555644 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 62106c5c-3d01-432f-869b-71d07c102acf CLINVAR:661308 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a5cafeb8-cbca-483d-8e3e-120bf6a14467 CLINVAR:661308 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 299e86a9-be02-40b2-a2a2-e128b6a1e5b1 CLINVAR:1632 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3708486e-0ce8-4a99-856d-a02afd39ed42 CLINVAR:1632 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0299a7f5-9aad-4cda-ac7c-79b2a6fafa3d CLINVAR:203592 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b08da72e-301a-4301-8c39-3721ef98a50b CLINVAR:203592 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fdb67073-db34-440e-830a-a6e8200e3d4a CLINVAR:839947 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 45caac4f-a809-4a02-ab4b-066bdb7d4bf5 CLINVAR:839947 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 66aabd9d-966c-470e-80f4-9f0b7014281e CLINVAR:92290 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen fbbf6377-0d61-42e3-b92b-20ada353c46a CLINVAR:92290 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ff5325f2-ae19-4a14-a4dc-3533b7f80bec CLINVAR:21016 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e17a73d5-d4eb-49b5-a85d-a211c5bcaaf7 CLINVAR:21016 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f13c5ea3-c10c-467f-9cf5-a7476a2068ce CLINVAR:1634 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b79e5be4-aa3b-471b-b723-414f3ed8ebb6 CLINVAR:1634 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 49802508-ab72-4dda-9003-1e184a5f2ab6 CLINVAR:21019 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9814e754-6be8-4d1a-8c80-bd3bb1f5aab9 CLINVAR:21019 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 49716ff3-721d-4926-bd94-e2f57a76fe2c CAID:CA1139532270 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e4b59f3b-a883-4042-acf9-0794ef1352e6 CAID:CA1139532270 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 543fa750-74c4-47c5-9411-7040a978ff31 CLINVAR:166641 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1ded704a-2998-43b9-9d04-00e320378d79 CLINVAR:166641 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1e607391-922c-4949-9d25-df0d6774ba96 CLINVAR:807359 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f8ea9637-69ac-4457-ac44-f371b2f3d96f CLINVAR:807359 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2440d10f-c6ed-4526-8ecc-a187e696581b CLINVAR:370717 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen cb412bc1-1659-4048-be5b-e3745d8b4174 CLINVAR:370717 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3d2d4fcd-57d7-47b7-a81c-3f2fe9242445 CLINVAR:581080 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 044e0bd5-bd15-4588-92c4-fe5b1835295c CLINVAR:581080 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 08831372-2ad0-4d58-ba60-0a5a0db9160a CLINVAR:92283 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3b379b47-c5cf-4faf-a9a6-53669ac33695 CLINVAR:92283 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 13349f3f-667e-45b7-9399-4935a0e1a61d CAID:CA916084367 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7c1711fb-d872-4a54-8dd3-ebd1076ffffa CAID:CA916084367 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d591a1c3-4de7-4d9c-b08c-a36ff2004096 CLINVAR:370770 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8f3cea7b-893f-42f7-92aa-39747f375e5e CLINVAR:370770 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f9a55708-8abd-48a6-b455-ec4920ed9953 CLINVAR:166646 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2d3ad4a1-0e1d-4ee4-9e3d-3246a6d70770 CLINVAR:166646 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f2947120-1d30-402b-95ed-220c54d435fa CLINVAR:932835 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 46ff6371-a0bb-4a67-80ae-f84fd618fcd1 CLINVAR:932835 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 57f91eed-6e3a-43a5-b642-6d119f11122e CLINVAR:557136 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 46baacd5-4457-4cbe-aa2d-246224cc1f5c CLINVAR:557136 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9c90d86a-f527-4bac-8edc-e8149f2071c5 CLINVAR:418698 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 68dfbc21-27a4-413c-bd2f-a11cac96852f CLINVAR:418698 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5eee7a27-8245-4444-8c6f-6b9ce3fa1ef8 CLINVAR:1075156 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0254cc9d-1a70-44db-8785-2ecc098a7e39 CLINVAR:1075156 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a8ddd979-8a55-47a7-8e10-85b59883cb41 CLINVAR:1622 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 87936bf1-6440-4156-96ab-9f8da802af47 CLINVAR:1622 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ef305136-dbd0-4182-8d62-e73f6e5fe5e5 CLINVAR:932851 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 67e68858-4077-47cd-823c-1483bb64a811 CLINVAR:932851 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f411fa15-2c79-4759-bb83-17276db46eba CLINVAR:810875 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5be79e13-97cd-464d-9a03-ec8fd525499d CLINVAR:810875 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen af628ec8-ad8b-4e70-9f4a-49a4388d31a1 CLINVAR:812785 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f5cb33fa-b033-4877-9f82-5bdf025a46d6 CLINVAR:812785 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 99d13906-1a11-40b8-9319-1a0984c546e1 CLINVAR:203595 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c097d219-d1e0-4413-aa38-32076999cb0d CLINVAR:203595 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b54da515-d98a-4d15-b73a-e8823727f3cc CLINVAR:932788 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c34a5c44-337b-4c4b-8e37-c6a30f23474b CLINVAR:932788 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a7d8459c-fee5-47dc-ac5b-6cc30e4a668d CLINVAR:439361 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 19b5a996-e568-4c82-b993-67490abcdbec CLINVAR:439361 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5324a36a-1929-4789-a3fb-cad0cd421fda CLINVAR:1073505 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ace1ce63-7590-4c6e-a278-275e1609be13 CLINVAR:1073505 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 84a8905a-b53a-44f8-a613-ede564274a39 CLINVAR:876022 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1097abb4-f3b3-4734-9123-86c29604210b CLINVAR:876022 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f5722f12-2264-49d0-ab8d-f8cca351d409 CLINVAR:1810373 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ce51e262-56aa-49f0-85ff-76d2b2018af5 CLINVAR:1810373 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 03454f1b-d170-4170-816b-8670f75cce5b CLINVAR:1810374 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9a174b01-c605-4852-b487-5e3d584c8414 CLINVAR:1810374 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen de91c867-1cf1-499f-9d82-631db03a9b5f CLINVAR:1810375 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6a3c6ecb-3468-45ef-aa80-2a7b4f59f0ef CLINVAR:1810375 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ae6b1eca-50c9-4955-9dc9-a4e1ea8acca0 CLINVAR:1810376 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1532ecbc-03d9-4f53-af4e-9afe03ea6af3 CLINVAR:1810376 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f8bd47d7-c9a8-4c9c-8533-f86316d15a0e CLINVAR:1306862 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1610a6dd-e64e-4732-acab-5dab8dfa81ea CLINVAR:1306862 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7996997b-dd0b-4858-9bca-474f917403fd CLINVAR:1810377 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 98cf8bea-fc73-4178-be1e-a0b6f735a88e CLINVAR:1810377 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e32308c5-61aa-4f54-831c-6ef67298941d CLINVAR:1803197 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a03ea886-075b-41dd-89d2-fff29202d0f8 CLINVAR:1803197 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 36989a0d-5116-47c8-8579-ea93d9503628 CLINVAR:1810378 biolink:associated_with_increased_likelihood_of MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c3ebcd12-7cfa-47d8-9e32-2eaaba961495 CLINVAR:1810378 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5102b155-8b04-4151-a8aa-8ccccf541aa3 CLINVAR:1810365 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 73a11287-1a1f-4e2f-8e23-7d7f6603354d CLINVAR:1810365 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7dec0bac-8931-4a66-aa67-255b4d28fd12 CLINVAR:1684936 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 70ff3911-1f17-4966-935c-c7d630318597 CLINVAR:1684936 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 07643adb-964b-401f-9d75-1341f310ec69 CLINVAR:1810366 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 762d59a1-cb89-48d7-a64f-852e4a3db248 CLINVAR:1810366 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 106aeea1-6531-4d06-a622-4c7734d5d589 CLINVAR:1810367 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 19dba6d2-1351-4ce5-a5f2-18dba2764c0a CLINVAR:1810367 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8bf5e1e8-c8ae-4adf-a1d5-a6991f9a442c CLINVAR:1810369 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 63d69f85-9a7b-439a-9cd6-d3bf3143ea61 CLINVAR:1810369 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 618cd471-ce67-43df-8b89-05c1afceef14 CLINVAR:1810370 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5191ea82-f220-4175-903a-759fc0ac4059 CLINVAR:1810370 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 93987c18-253e-41b7-9f85-24f373f712dc CLINVAR:1810371 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b3056481-f23f-41ec-bfca-c770f20a13b1 CLINVAR:1810371 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 475937ab-9f4b-4c16-8473-0ac3936de0f1 CLINVAR:7957 biolink:associated_with_increased_likelihood_of MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 35273988-1969-4852-8b1c-70d6e39f8477 CLINVAR:7957 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 97b9c3ac-d6c6-4713-be07-b1bbaa5dd726 CLINVAR:1810372 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen bd7eff6a-47f6-447f-8540-fe8a550c2268 CLINVAR:1810372 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 96d68287-dcaf-4321-ace5-aff8197db0ad CLINVAR:1073342 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4f137296-2f9f-4020-963e-999a29ea7294 CLINVAR:1073342 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 58fbf309-8d78-4a5f-8216-85215eca505b CLINVAR:1628 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a2494de2-2edf-46cf-bde8-969e559909a9 CLINVAR:1628 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1c652389-7a75-4190-837a-9e58634067ad CLINVAR:818026 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 43af45b9-2d14-4b4e-9432-1475eebac56c CLINVAR:818026 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2e2e770d-b675-4e7c-a7a4-23cd7e5dafb3 CLINVAR:936835 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen edf1121e-0797-4565-a097-df4fbbd21132 CLINVAR:936835 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0571e751-5a51-4029-b917-3ac575822fb9 CLINVAR:557078 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d3e879d5-dd2b-4d41-85b5-daf6afa795d1 CLINVAR:557078 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9c9f0358-5594-4390-b68a-436d4c961927 CLINVAR:550315 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9e68d32c-5b65-4180-93f1-379e979531de CLINVAR:550315 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cfc94ed9-450c-44d8-b771-aa0bb65a37bf CLINVAR:474901 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4f77a646-b87d-45d1-b391-f7feaa2f1208 CLINVAR:474901 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 499441d7-b184-4ffc-9efb-8fb9e4ef7ad1 CLINVAR:203591 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 22684795-01b7-4935-b744-8c75a6074eef CLINVAR:203591 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 206d63af-56d6-44f4-8454-68fb3278e552 CLINVAR:595610 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 19c2140a-19f3-4509-9db3-1ca1cc9a3286 CLINVAR:595610 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ee860bbd-2203-4c00-8814-bcb85194d83e CLINVAR:194317 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 91515dc0-da37-46bb-933f-c770f8abcbbd CLINVAR:194317 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9e406ddf-1e3b-444b-b0e3-2f1b3c381ac3 CLINVAR:429730 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 202b290d-4f8e-4cba-b831-a71a17a87b83 CLINVAR:429730 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f9cc2acc-f9f0-4273-b9cb-5772a6a0c86b CLINVAR:932833 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0d9a492c-7f9f-404e-bcff-20f2eb035482 CLINVAR:932833 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 947eac88-7b6e-478f-a6e8-c7101079696e CLINVAR:379145 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 763984d1-1e73-4840-9b12-f7d536017d68 CLINVAR:379145 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cacbae41-42b1-465f-a6ab-00d88436fe78 CLINVAR:4035 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c1478775-b9d3-4ddf-b7f3-8577b1cc71fe CLINVAR:4035 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1fcb87c7-b0db-41b1-a138-9bcecfdc0ce7 CLINVAR:972747 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b77c0e5e-2452-492a-aec6-884181b3fd87 CLINVAR:972747 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c68f3703-59de-4663-baf7-d079cd3f1761 CLINVAR:198393 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 50ddd757-4ef6-4af5-9d8d-d1a5135a0752 CLINVAR:198393 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a94adf55-2034-463c-8cf8-206fce25dc9f CLINVAR:930445 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d35d2b28-9b17-45f8-8066-1daa44a05942 CLINVAR:930445 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 86b8d191-f4bf-4295-80dc-40ce99e34ad5 CLINVAR:495664 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e5b115c8-11dc-4f19-935d-765647c66e5f CLINVAR:495664 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7432cd69-85fa-4934-8466-4b7806fc7cc3 CLINVAR:550825 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 346ce02f-c879-4ea9-a4ab-a1286bab1f6d CLINVAR:550825 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 30e48221-d341-4714-8683-c11d980fdd52 CLINVAR:283230 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 11cb0ee5-4be8-4d03-baee-89fc596abbfb CLINVAR:283230 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 82b0d47c-923e-4e97-835b-979ab471f12c CLINVAR:557811 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d6872e79-7aee-482c-b4cc-590f770e382c CLINVAR:557811 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0d5a919b-c5ac-4d54-a869-3129f804a7f8 CLINVAR:1308288 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 53e8693b-fd02-4337-a168-2fd150c6b779 CLINVAR:1308288 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d5c9ae1a-fdb4-466f-8616-9266c817f1d4 CLINVAR:597944 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b57f6109-4d41-4cf3-8bb9-505e81f134c0 CLINVAR:597944 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e0e9502b-ebf9-4b39-9f06-146a9dd7e36d CLINVAR:237861 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 96f49d5a-9573-417b-9b05-bd7650476632 CLINVAR:237861 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1420ad0c-a731-46f2-89b9-27810b5b8da5 CLINVAR:251895 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen dea91802-775a-4cf1-b494-3d470534b9a3 CLINVAR:251895 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen afa2839f-9ee3-427b-8ee7-13cc9d0f5c3e CLINVAR:252294 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 882bd70b-56f0-44c3-adf2-d6ebb9c881d4 CLINVAR:252294 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c30f84fb-60ab-44b9-b008-b9f0b2f0f4c9 CLINVAR:252295 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 454848d0-234d-47e9-9ce7-9a79f35d9343 CLINVAR:252295 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fa1e49ca-2add-44c1-8042-bc0bc7aa76f9 CLINVAR:251138 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8a278b16-1079-4106-92b8-c48632b030c8 CLINVAR:251138 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ee05cf8d-cbfc-42fc-a04e-382d094a0bf8 CLINVAR:251876 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen dfa45c16-5c3e-4d2a-b0df-7e398fac4d26 CLINVAR:251876 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 32a16e40-190c-4495-b316-02efeb09936a CLINVAR:251808 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 929f31cd-badf-425e-8664-4f9953c11da2 CLINVAR:251808 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c2486bc6-be3f-47c4-9ff5-f168c7c215f9 CLINVAR:226382 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0a7bc2e0-064f-4f85-bcc5-4562ce21b904 CLINVAR:226382 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 72e095b2-a713-4cc2-a367-c9bcd64373a3 CLINVAR:183129 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9d0de058-e4a8-4c39-ad40-eca4f7591cba CLINVAR:183129 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3e193eaa-3a43-4b4e-9072-913db53d3bf8 CLINVAR:927435 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 77a110e2-1aa8-445b-aa93-0a09894daedd CLINVAR:927435 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bfac9384-1fc4-4a34-b249-8fa931aa52dd CLINVAR:430743 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c5e126c2-4fbd-4b1b-86a0-a319754409ee CLINVAR:430743 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b11d178c-4048-411d-b429-b1331e0b0b12 CLINVAR:252325 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 42c5a6e5-4584-47ba-b72a-324d1ac8d716 CLINVAR:252325 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 57b7fbd8-9110-4ddd-a119-aa446dbd49f5 CLINVAR:252110 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 53217c9c-e41d-40ac-b6b7-1bc1a02c75bb CLINVAR:252110 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9e352cf5-e897-4afe-8aca-3c0e8bb63fdb CLINVAR:252109 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen eb4f2a08-c078-4c2a-8eda-1f48485c6ee8 CLINVAR:252109 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0a0162d8-8444-4fb6-b91a-a29022849f01 CLINVAR:438327 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a6d0608d-f41a-49f8-a621-f6955e0535ca CLINVAR:438327 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0bcc0a4e-d50e-4d67-8bc4-7dc6e9f48769 CLINVAR:250946 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e6f06c69-d894-4ca8-8098-865a77aae6d6 CLINVAR:250946 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 185bb2f4-6c60-4cab-9b9d-4d582771e73f CLINVAR:251097 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b6908084-348a-4972-a17f-530b2e5df93f CLINVAR:251097 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 02f48e41-1193-4f2d-9865-ad401746b476 CLINVAR:252258 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 38538f6f-ece6-45ce-87c4-b887c5c7b478 CLINVAR:252258 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e0de5148-2def-48d9-be7d-9f8c6822cd2f CLINVAR:403628 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2b5aed21-04ba-44db-ae20-b3f1f565773e CLINVAR:403628 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e3079640-83f3-4775-8665-2918ce02f9ee CLINVAR:250982 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 640f38db-8c26-47c0-acdf-317cc0ff0141 CLINVAR:250982 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 425c0853-5b2e-4dc7-bf9b-abd36a26c77c CLINVAR:919564 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen dfb003ee-86e3-41be-8f47-c2d4b47906fd CLINVAR:919564 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen afff29d9-2b51-45bb-81f1-19e549cce7e1 CLINVAR:252065 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 20c5a528-3c3a-4e06-bf76-c379f69b1959 CLINVAR:252065 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c351a447-d1aa-4355-b5a1-28b3374720a6 CLINVAR:251040 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 01972c66-2315-4b9a-9cea-b4ad58fe0cd8 CLINVAR:251040 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 783eb4ad-203f-40f5-8fb2-e12f07778fc3 CLINVAR:523722 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 363e0073-8859-430c-92ca-2027997d969a CLINVAR:523722 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 31ce1639-1c77-45ad-acda-03a8f27820b5 CLINVAR:251087 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 21469956-13d3-4eec-a6c7-ce7b13e14b71 CLINVAR:251087 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3d667877-18b4-4251-93ad-88ce7a460276 CLINVAR:923296 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 70884419-0ba0-4588-bcf2-c79a67cef677 CLINVAR:923296 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3c2b8c03-384c-4a36-9b1a-4d895854d422 CLINVAR:430774 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b53e721b-22ae-48a0-8cbd-99f9c22e480d CLINVAR:430774 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7ce9b58c-dfbb-4e9c-944a-7496fa7b77bb CLINVAR:183115 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f47868d5-83ce-4cb5-856f-ad021737f652 CLINVAR:183115 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0f7bb97d-ce56-4c67-a222-26b1dce67adc CLINVAR:252022 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen efb86ae2-14f7-40ad-940d-65b9fb7d2e99 CLINVAR:252022 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6dac52fd-0eba-4dda-a87e-4f162ba45d9f CLINVAR:441222 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 39ef57d9-a8e8-473f-90f7-b41708337a92 CLINVAR:441222 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 87105ee8-ea3e-413f-8eb0-a2745c41258b CLINVAR:183125 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen cb3fa70e-48cd-441a-9b41-5b3cb4f4bfa9 CLINVAR:183125 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4e7c79cb-87c7-490b-a09b-bb005f8179d1 CLINVAR:252036 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 57506e1f-3988-4e00-8cb7-f73908be75a8 CLINVAR:252036 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0954d93b-91bd-4960-9cf6-3d5dbc4dbe7c CLINVAR:424578 biolink:genetically_associated_with MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3b4c27ab-764b-431d-a7f0-1c5fd1366cbc CLINVAR:424578 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b2392c41-bc39-4e22-816e-11ef5971baea CLINVAR:456652 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen bbc90e55-faeb-4d24-a973-020d6d4da10e CLINVAR:456652 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d423a4b7-dde5-483c-bf05-b6b6a7c7d51e CLINVAR:252071 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d6c097fa-bc25-4dd1-a1e2-16270f4c00e5 CLINVAR:252071 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b45f6b69-8efa-44c9-a68d-770bb7c2c3e2 CLINVAR:251774 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 83a51e48-95af-4f4b-9b3e-57477806cb43 CLINVAR:251774 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dafb0609-79bd-4904-86d0-f15c458e38e5 CLINVAR:251773 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7776127a-0879-4d34-a4e8-af3be3808f22 CLINVAR:251773 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b784767d-73fd-4005-a355-1b6bee42336d CLINVAR:251775 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 36c4866e-d436-4296-afad-66317ec5e886 CLINVAR:251775 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6592d472-8bef-4a19-b663-8f8f17797205 CLINVAR:496018 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 19488823-fa33-4535-a98e-71a0ea4af7f0 CLINVAR:496018 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fa752d53-1c61-4b9b-9635-03d17587f06a CLINVAR:251510 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0fa86c3d-da3a-45dd-af35-acd8ca2a7201 CLINVAR:251510 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bcfe9be4-3ae6-4794-b148-20a93c9d8abc CLINVAR:430742 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d493b7e4-1e16-4784-963a-502b3d1cce8b CLINVAR:430742 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 402cb278-889f-4da3-ba18-22bc5797b9fe CLINVAR:924646 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen acdeb870-b87f-48a1-96be-a1056fb1a9da CLINVAR:924646 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 31b2996d-cb2e-4e48-810e-c6c48ce855fd CLINVAR:251704 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen feaac76e-857f-47fb-9b33-a6c02317b868 CLINVAR:251704 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0b803b58-e403-4aaf-ae50-1c3550f8d969 CLINVAR:870321 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 132fd383-6cd1-40f9-9235-fbdacf2b8d8b CLINVAR:870321 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 26cfad46-4d0e-4569-97ea-64e17e42f7a7 CLINVAR:440630 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 003bde10-24e4-4694-bac0-fe1acbcf907c CLINVAR:440630 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dcf7de54-2faa-402d-bdbd-f8d03c932c09 CLINVAR:924165 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 662b6d9b-bf56-4999-a45d-07afa0041582 CLINVAR:924165 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 352146a7-2375-4ac9-9d6f-eeeee01ff39b CLINVAR:250949 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 261756f7-a5f1-4655-ac85-cd98471a02fb CLINVAR:250949 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2bb4ea41-dda8-4dc5-b58d-56d1574366ec CLINVAR:250952 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen eab67f13-b324-4368-adae-50e4a737d84c CLINVAR:250952 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 66207530-d3dd-42d6-8493-5224b1089185 CLINVAR:430745 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f0bcea83-4de1-40d1-bb9c-f80de3d7fbf5 CLINVAR:430745 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e207684f-f394-43c1-af59-dad2a416b174 CLINVAR:252046 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0d3b8b5a-2ef3-42c6-ba9e-701919c862d3 CLINVAR:252046 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fe0d0646-b59c-4515-b319-4bee5e276b01 CLINVAR:226304 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 72ae5db2-6896-487a-9bfb-0d24c182ffde CLINVAR:226304 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8eb09b3f-f136-4cec-b6cc-eb11180e995c CLINVAR:183108 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen cf4a4098-f743-4d39-8946-2661eb535436 CLINVAR:183108 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 47e1d2c6-161f-4f38-b3b1-2eabf86d9066 CLINVAR:250971 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 54cd0e04-7bfa-4c21-86a2-5461aca61d31 CLINVAR:250971 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 38333865-020e-417a-8de4-baf6bfb19410 CLINVAR:183094 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9ede9422-738b-49ac-9203-53179609aedb CLINVAR:183094 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 23a2899d-d9e4-438c-8ac2-51e3283cda57 CLINVAR:927149 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2d3cc9ce-cb08-44d6-b5f3-150cfc7abca5 CLINVAR:927149 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a77a63ec-505b-459d-8081-f21593844aef CLINVAR:440602 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 02fc1340-8eac-49ad-9407-4aa90b544a4e CLINVAR:440602 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 595a05e6-3e6f-4018-b0b3-302969585639 CLINVAR:251447 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 09d34fac-0b94-4563-813f-a3a5f7dc8e28 CLINVAR:251447 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 480e650f-81df-49b8-b1a6-3377505a62de CLINVAR:456412 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3fcf7f97-834b-4d6b-bc0c-1cbe268cb537 CLINVAR:456412 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 000016ea-9577-4a96-ad42-53d6554b18a5 CLINVAR:143526 biolink:causes MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f1c7de51-c10d-4f31-bbd4-9bef4e445796 CLINVAR:143526 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7d90770d-081a-4061-b679-63fc78f5a407 CLINVAR:690207 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2c974e52-8ebb-4a2e-aaaa-05e818ab4e7c CLINVAR:690207 biolink:is_sequence_variant_of HGNC:7479 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6b101869-c15f-4619-8138-fc6f48afae73 CLINVAR:9586 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3c9bc293-7d4a-4ab1-a903-31689dcebda6 CLINVAR:9586 biolink:is_sequence_variant_of HGNC:7491 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2999c72f-f9ef-4511-991a-8e789887f125 CLINVAR:42226 biolink:causes MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c75d5a3a-68c1-46fd-bd45-3289082b25b3 CLINVAR:42226 biolink:is_sequence_variant_of HGNC:7497 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 21cecf06-4118-4aff-ac97-87035f00ecd6 CLINVAR:689871 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen cd47ea33-b94a-4b2d-acd8-95b56c0f6855 CLINVAR:689871 biolink:is_sequence_variant_of HGNC:7490 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b976d03e-cbe4-4ea2-beb4-aa130465a99f CLINVAR:9612 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ffb491b8-5fd3-47bc-bcc9-18e83abc25db CLINVAR:9612 biolink:is_sequence_variant_of HGNC:7486 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 152ddbef-0fa8-40c6-8059-a28b89fffb95 CLINVAR:9624 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 00b5c881-a533-43cb-8a78-aaf313c7c334 CLINVAR:9624 biolink:is_sequence_variant_of HGNC:7475 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bee926fd-448d-456a-8588-2d7ef51053a4 CLINVAR:986494 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f5ed9cca-d96d-432a-ad55-099ba3363a29 CLINVAR:986494 biolink:is_sequence_variant_of HGNC:7491 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d2ac1563-b709-444e-bb96-c525cbe70d33 CLINVAR:986422 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d2be4661-f584-4e0b-b4aa-cdb98719be90 CLINVAR:986422 biolink:is_sequence_variant_of HGNC:7489 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9122f5fd-3619-47d0-abf1-550be1d204ef CLINVAR:9566 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 45a65f2a-2e89-4caa-94b8-e21bb2a36f78 CLINVAR:9566 biolink:is_sequence_variant_of HGNC:7497 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d2440ff5-3803-4e38-8467-72774aaaf794 CLINVAR:932827 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ce046a99-85bf-4f9b-8430-aa45bca783b3 CLINVAR:932827 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 13b6ed4b-e619-4fb5-b20c-62224267c698 CLINVAR:935797 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen aeabe3d8-1dd4-4bf1-b4fc-4497354862a7 CLINVAR:935797 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0b4e143e-0dd0-487a-82f1-29a61de26e59 CLINVAR:932845 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d97d2c3a-f801-4835-9614-efc6d4314253 CLINVAR:932845 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ebc945aa-d8e9-465d-9f6e-67910fc9bc94 CLINVAR:690181 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2e9379fd-c505-4442-b7a8-942459da4822 CLINVAR:690181 biolink:is_sequence_variant_of HGNC:7491 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aab84c78-8060-47ec-94a8-4be7b0d8fbaa CLINVAR:689874 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d6b510a1-4126-4174-9d98-3289ed0ced99 CLINVAR:689874 biolink:is_sequence_variant_of HGNC:7488 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 33303b03-3b67-41e1-bd88-22c1d83229b3 CLINVAR:379889 biolink:genetically_associated_with MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d1981c1b-3fce-4c8a-820c-edc755869add CLINVAR:379889 biolink:is_sequence_variant_of HGNC:4284 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f99ccb62-8760-440c-905c-d88c6e2586da CLINVAR:225920 biolink:genetically_associated_with MONDO:0012996 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen da03dc4f-38c6-459d-a892-cbd6f6b3ace0 CLINVAR:225920 biolink:is_sequence_variant_of HGNC:4175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 43138e03-f534-4f59-a4e1-170001dc9056 CLINVAR:225916 biolink:genetically_associated_with MONDO:0012996 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 469caf79-e2d0-4095-810f-46f2ae8963f0 CLINVAR:225916 biolink:is_sequence_variant_of HGNC:4175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 819f24ff-89d9-43bd-bd12-b3f5ed24c5cf CLINVAR:225913 biolink:genetically_associated_with MONDO:0012996 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7df6d0e8-8d3b-4e1e-a2b3-12a0b5b8c847 CLINVAR:225913 biolink:is_sequence_variant_of HGNC:4175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0da30f51-9aac-4116-ad6d-9e72408e7341 CLINVAR:917494 biolink:genetically_associated_with MONDO:0012996 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c1d6a74e-1915-4a04-86bf-0c86807d377a CLINVAR:917494 biolink:is_sequence_variant_of HGNC:4175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6d2e4be6-3fa0-48b8-a272-241d2ff392c7 CLINVAR:917493 biolink:genetically_associated_with MONDO:0012996 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9c6610a6-b80d-4f6a-8871-7015c4e60b8e CLINVAR:917493 biolink:is_sequence_variant_of HGNC:4175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8e315078-bd37-4226-801b-e26945fe184e CLINVAR:225918 biolink:genetically_associated_with MONDO:0012996 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 01ebc598-db26-4d18-ab84-d24b86edb61e CLINVAR:225918 biolink:is_sequence_variant_of HGNC:4175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 67407f08-2339-4395-8c08-464ad5f53f6b CLINVAR:225915 biolink:genetically_associated_with MONDO:0012996 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0b7d294f-74ab-4408-8c79-4454e66ddeea CLINVAR:225915 biolink:is_sequence_variant_of HGNC:4175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 098406de-6dd0-403d-a776-5ffe9789b76b CLINVAR:225914 biolink:genetically_associated_with MONDO:0012996 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fc549465-0026-4a6b-b1d5-bccac24cbe4b CLINVAR:225914 biolink:is_sequence_variant_of HGNC:4175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 607b5adb-df99-4f07-a618-b40dd771c8f3 CLINVAR:1478699 biolink:associated_with_increased_likelihood_of MONDO:0012996 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9e3e1402-a264-49cd-9d41-72e928a4efb1 CLINVAR:1478699 biolink:is_sequence_variant_of HGNC:4175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a939bdd5-5922-4043-8a33-ef228e1195de CAID:CA392260686 biolink:causes MONDO:0012996 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2652f28c-cb1a-4cca-9f80-c9981f92a43a CAID:CA392260686 biolink:is_sequence_variant_of HGNC:4175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 347cd354-2e43-4f8a-8169-3f2a6e4911d9 CLINVAR:2446453 biolink:associated_with_increased_likelihood_of MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c32ec4d8-91b5-4247-9c20-965a839a6aba CLINVAR:2446453 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4d914fb1-4faf-49cb-a6b2-2770ba4278f5 CLINVAR:556882 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8b659825-006d-4d77-974f-a43726872499 CLINVAR:556882 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9fbbd834-94d2-41b5-8f17-cbea48e2db9d CLINVAR:1487846 biolink:associated_with_increased_likelihood_of MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4472c714-26a6-41ad-9b34-85550378b27f CLINVAR:1487846 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a2abbed4-17e8-4317-9f05-217d891546c9 CAID:CA1139532474 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5fc74c21-6c1a-49ef-959c-51abf8f7ed8c CAID:CA1139532474 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ea21ecbd-8fbb-4ddc-aae0-529bc6674d45 CAID:CA269524632 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8d658c77-3fec-4735-8e31-69f0c39ed6fc CAID:CA269524632 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 21b1a9fc-1aac-4a53-8066-d12bd0ff6023 CLINVAR:2429790 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3dec0975-4ade-4280-882c-faedee998b42 CLINVAR:2429790 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c905eab8-b283-4c8e-b77c-b78f61c8fa7e CLINVAR:645957 biolink:associated_with_increased_likelihood_of MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen cf42dca2-6741-4e0e-8fc0-44fb21dda3a5 CLINVAR:645957 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e6818652-856c-434f-832b-234dc3bdf6f4 CLINVAR:429154 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 868e2ae1-a4ae-4e96-beaf-ede5ac8ad620 CLINVAR:429154 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7f3abb0f-d285-45c5-a2d7-692b547ab4b0 CLINVAR:644129 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ba1779c6-8717-496b-87a5-36a6fbbb932c CLINVAR:644129 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 60116a2d-2b66-46b8-b70b-6647fbb6d9f7 CLINVAR:483408 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen bfc19a14-dbbc-4097-8de9-8114284a147f CLINVAR:483408 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 43b8195f-48f5-487d-9989-a80cedf3ccdf CLINVAR:825868 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3c72703c-4512-4594-8c87-d29386382c0e CLINVAR:825868 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9b8603f3-7697-4351-a2b5-4d256b519906 CLINVAR:375463 biolink:genetically_associated_with MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen bb6b2310-30ef-45c9-b2c4-c68e3f690f9d CLINVAR:375463 biolink:is_sequence_variant_of HGNC:13733 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dcb81af7-16a9-41e4-8437-c7d9d405c82c CLINVAR:866837 biolink:associated_with_increased_likelihood_of MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6c5d9db5-7670-41c1-8cad-b17d9e937dff CLINVAR:866837 biolink:is_sequence_variant_of HGNC:7606 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e653ece7-aa18-40c2-afa7-24707d380454 CAID:CA913187307 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 78518b74-bf96-4ac0-90fc-c763fecab65b CAID:CA913187307 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6a607d1f-5745-421d-907b-9ef6d12ba766 CLINVAR:92289 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d4f6de62-9417-46c8-889e-6b14b08b0a21 CLINVAR:92289 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2af60e8b-d51a-4c7c-9616-d571fcf6be66 CLINVAR:474878 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 37bb9106-5a4b-43ca-a98a-3a3522af337f CLINVAR:474878 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aa864407-eeb1-4440-89d7-13fbedccc1a1 CLINVAR:941106 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7fe59c9a-0ff2-4cbf-b44d-ea7fdee1d833 CLINVAR:941106 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 82112737-28c3-4e69-b1db-c54fffec0ecd CLINVAR:932838 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 36a71ce6-8154-4505-a5f3-11888093c632 CLINVAR:932838 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ef6c80b1-e9dc-4cd8-b01f-39b0d8994295 CLINVAR:2429755 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 71ecbb67-3a33-4b59-930a-649b18eafa96 CLINVAR:2429755 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7823f30d-cedd-46e7-959c-b3d510c8a869 CLINVAR:2442270 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen bccee025-2620-4d09-a053-6b85b3341f53 CLINVAR:2442270 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c3fb8cbc-29aa-4a42-91d0-4740c6f0b745 CLINVAR:2442281 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4efcd7a4-eb7e-4ffa-9eef-436b70fa88a2 CLINVAR:2442281 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 592a2056-a257-494d-9b3b-e99623575881 CLINVAR:2442286 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 194c0e0b-e114-4086-bfa5-5f3d13b15494 CLINVAR:2442286 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 873c75a5-adcb-4798-9c52-a4b976c151d7 CLINVAR:2429759 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b685947e-f2c7-422b-89c8-a68db5d7f177 CLINVAR:2429759 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8d91c35b-7c53-4f4a-8436-d4372ee9271c CLINVAR:2442287 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen cf098208-94df-4cae-9178-efdc2b95075d CLINVAR:2442287 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen be7a6195-1649-4c38-b6ec-e7a73158a246 CLINVAR:2442288 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9234cb60-a83a-4c7a-98e5-031334b150f4 CLINVAR:2442288 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cd4098d9-9d57-4a51-9f53-74f50cbe0dbe CLINVAR:2442290 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 87b47e96-ef3a-4434-a05d-17c16d423c7a CLINVAR:2442290 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f64ccc3a-c32d-4fbd-a4c2-39c08acea358 CLINVAR:2442263 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9ec5239b-6a59-417f-870e-07477dc5aef5 CLINVAR:2442263 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a2d39271-5f08-46c8-9665-28315e8a8063 CLINVAR:2442264 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2132de15-8b9a-4aff-9b49-2c1a75cca66c CLINVAR:2442264 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 61cbaf7d-dca4-4fb6-9611-3a1756ec314b CLINVAR:2442265 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5b82c703-3ba1-46fe-8d09-c1bea9d5ad29 CLINVAR:2442265 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 11e1a1fc-43db-4680-8b8e-4eef85ec3865 CLINVAR:293716 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 32a876e3-c966-4e33-b544-5d7c32efe3b6 CLINVAR:293716 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8bb7b76c-61a9-4532-aae5-e416124990aa CLINVAR:2429760 biolink:associated_with_increased_likelihood_of MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 87913b56-b4fb-478e-9273-b4c4c61262f8 CLINVAR:2429760 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 089d58c1-0315-4a24-b252-0515261a8805 CLINVAR:2442266 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3b2e4ee5-800b-47c7-a083-f00cab40b4bc CLINVAR:2442266 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0fe68019-1e73-46e3-9490-701458603ebc CLINVAR:2442267 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ee3f37d4-8792-4d20-8d2e-74dc779269ca CLINVAR:2442267 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6fad9130-6666-4331-b2b4-9fda68ee83bd CLINVAR:2442268 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e3ad94f4-b26e-4def-94a8-4f8f5e08fa44 CLINVAR:2442268 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 54cf7471-71cc-4abe-908d-54284242382e CLINVAR:2429761 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen beba2c4f-4eb8-478f-94dd-5f5f26757c8b CLINVAR:2429761 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 25f5d781-fbf9-4edf-b1e2-211959f91931 CLINVAR:2442269 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c4deee8c-8c47-40ea-850c-8211857e1de3 CLINVAR:2442269 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6d15657a-f325-4029-8c70-932048959596 CLINVAR:2442271 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a09ce9c8-da5d-45dd-85b1-d5fe59f50a64 CLINVAR:2442271 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8d86317e-7858-43f9-a5a3-ac46e6d4522f CLINVAR:2442272 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 544639d6-8409-476e-bcd2-543c4fcd7309 CLINVAR:2442272 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cc374f3f-ab65-4b12-b0c2-d7792de5e31d CLINVAR:2442273 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 622c6b7e-326c-44b4-afa2-276c8e3540d5 CLINVAR:2442273 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9938cb54-76cd-4867-91bd-0177b6f68491 CLINVAR:2442274 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 36a4823d-b3a8-4882-b76a-7c6081cee632 CLINVAR:2442274 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e680ea7b-9d5e-4b8a-ad04-7478c2e87a3d CLINVAR:2442275 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6929c9b3-c474-4f41-94b1-8222f5e28c67 CLINVAR:2442275 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6dd0ddf0-2192-4629-955c-b537fcc8eaba CLINVAR:2442276 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e64b1c44-3dd3-422e-9eb8-c5de3c093941 CLINVAR:2442276 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7ffcea00-9f65-45e0-8669-cae40b6e467a CLINVAR:2429762 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 130d5650-83a3-44d1-a1f2-8546d2d5e730 CLINVAR:2429762 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1126b9f3-3363-42eb-b4ca-02d3b918034f CLINVAR:2442277 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 60bdc4dd-d180-4ab6-a935-0493ad0f890a CLINVAR:2442277 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 541a5f84-2aaa-4868-aeee-90e559ff6e6d CLINVAR:2442278 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen dd4b41ef-3c23-44e8-ace1-fed1aca99eec CLINVAR:2442278 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 151c2fa8-b4d3-4caa-b1bd-2ab02ca91e7c CLINVAR:2442279 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a40d5ad8-b9d6-46c2-a5f1-e7254f7e70e5 CLINVAR:2442279 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9903b8b0-5158-466b-87ac-92fe575cd867 CLINVAR:2429764 biolink:associated_with_increased_likelihood_of MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7630e8fd-5015-4d7e-adf3-be60cf589d93 CLINVAR:2429764 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7c840f40-518e-4b7a-b4de-caba023bd022 CLINVAR:2429765 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ba003c21-b47c-42fc-9209-69067bac035f CLINVAR:2429765 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3181e1a8-3a0e-4e46-85d4-c49e2ef14a55 CLINVAR:2442280 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f64a71f3-54be-4213-a01a-082de8d134de CLINVAR:2442280 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4528cb99-2a76-43c6-a05b-5f2dc0998804 CLINVAR:2442282 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8a44ffd2-27ce-4cee-9bc1-6bcf6c6c111b CLINVAR:2442282 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d4882552-d93a-4cb2-a142-5a911e736d8e CLINVAR:1439558 biolink:causes MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5d97a3c3-9fcf-4bca-95c5-5f9d903d5a1c CLINVAR:1439558 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 92ef87fe-db93-46cf-ac3c-6bb559f0b10d CLINVAR:2442283 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6f6e625b-380b-4cd6-bd1e-3788fbaa3e7e CLINVAR:2442283 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 04fe5c5f-dd10-4ca2-848b-5d59316b3276 CLINVAR:2442284 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c99fd462-a059-42a8-9fb7-c7ba7bf0d630 CLINVAR:2442284 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen beaf1b67-0edd-4761-b9e4-0984cd3c9713 CLINVAR:2429756 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f0cdd204-3311-41df-8cbe-8a87052c6dbd CLINVAR:2429756 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ad19d8ab-7053-473b-a0b5-b2e1bc610a79 CLINVAR:2429757 biolink:associated_with_increased_likelihood_of MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 047ad6f2-8b21-44ba-a7c1-107fece6e2a7 CLINVAR:2429757 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 35108c62-0d97-4f45-b1da-427f7cdecfe5 CAID:CA8603502 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 318b868d-cb54-40a4-8558-305486924964 CAID:CA8603502 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 86c317c0-590f-4e73-b904-53d68ec31ccf CAID:CA8602740 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f7b3bd4d-4ce4-4049-a198-90d8e150bc16 CAID:CA8602740 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bfbb4a8c-c2d2-4e31-896d-d7bd1084155d CAID:CA915940796 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0cce0ad3-4fcd-42b8-929e-146f89e64d6c CAID:CA915940796 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 541848a1-d00e-425d-af41-a29cb526b3f9 CAID:CA400033003 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 54e994cb-d5e5-4d53-b598-0c2708bd7abc CAID:CA400033003 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7bccda60-c60f-4b90-812c-5c3c291848d7 CLINVAR:890710 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 948edf8f-36d7-4fa8-a3ff-8208e912a3a2 CLINVAR:890710 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f338827f-c1e8-4693-b2d5-bc67d119a54d CLINVAR:890713 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 56ee7291-f09f-47b5-9477-7354e8837af6 CLINVAR:890713 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5cf84f64-6a66-4a90-abe0-69e733e80423 CAID:CA8622991 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 85182627-2232-4655-bd5e-9862a8934d7c CAID:CA8622991 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fa7fe1f9-2655-4160-beca-65e2600061cb CLINVAR:2498348 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d18f18a4-20fa-4796-85bf-e85966fc5fab CLINVAR:2498348 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1d9016b7-0cd8-4df6-b9a7-843fc6e38af0 CAID:CA399790399 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 375064d2-33e1-4ad8-b312-5710d93134d1 CAID:CA399790399 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 92652fd0-93c8-4ed3-9c4a-18f3ece9b34b CAID:CA400029436 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a5a018a1-900b-4186-938f-c846bf3fbb0c CAID:CA400029436 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 20c0cfdd-f167-40ab-be26-f5c2588b2569 CLINVAR:2498351 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 300343fd-0b43-45c5-9ddc-944fdde6bbd2 CLINVAR:2498351 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 601754f4-cd72-436d-b8a7-47ad90c3a4cc CLINVAR:9628 biolink:causes MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 02afa04f-dbae-49d1-9c41-de6dcbe6b741 CLINVAR:9628 biolink:is_sequence_variant_of HGNC:7470 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ecf41472-578e-4c31-9731-589abc83f067 CAID:CA915940266 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 33d9eb13-acc0-4925-b3ec-40ca288b74d0 CAID:CA915940266 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 13e8351f-7e47-4176-bbf4-27afa9985fdf CAID:CA915940809 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1b7294b4-e49d-40ae-9952-6d6dcc67a647 CAID:CA915940809 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9812cb7f-36c5-4bcf-850b-59cf3bf65287 CLINVAR:892353 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen bdc0f211-b3ab-4cc9-b3b9-3b576548ac17 CLINVAR:892353 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1c41bcf2-5f53-427a-857e-7ba21692532c CAID:CA399805912 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8cb1764b-ecbb-4516-a636-cb73c83aa525 CAID:CA399805912 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 260bd61b-d848-43a2-8f2b-00f9f7b0f173 CLINVAR:2498356 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a38dbb89-13e9-435e-9fd1-3e7a7cb6872b CLINVAR:2498356 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1a5e4c77-8aaf-4c62-8b69-13f6cca878e0 CLINVAR:143603 biolink:causes MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5cfe704e-c0e0-494a-8096-8b177a761be8 CLINVAR:143603 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c45a1492-c9c4-4d3d-8ecb-1c8ebdebd5ae CLINVAR:324982 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d7179b01-000f-4d90-b3dd-adb1ed3a86d8 CLINVAR:324982 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 62c7ab70-8700-4a44-a8f3-d9e253eb0741 CLINVAR:371464 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7eef798d-acc1-41c8-8d95-788a71de6886 CLINVAR:371464 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e9507704-0e50-43a7-baee-6a39db8ffa3e CLINVAR:555732 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 59868990-ce13-46ec-b3ae-973e818c6a96 CLINVAR:555732 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d65841ef-8d49-4db8-a7c5-549f53f5ed32 CLINVAR:1676595 biolink:associated_with_increased_likelihood_of MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f49958e3-48fa-4862-a526-0f3012c679fb CLINVAR:1676595 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1b1144a3-bd00-4fbb-9bd1-0b9e29767fee CLINVAR:825824 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a2d2eb0b-96f1-4a20-bb80-e2429cf6a112 CLINVAR:825824 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b38884ee-38db-4f41-896a-4006d99a5f60 CLINVAR:543574 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen dde8376a-6511-4e4c-a409-6173faf142b3 CLINVAR:543574 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f31c9226-11b9-4aa8-922c-b1a1d8189f7b CLINVAR:570456 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3a944718-568d-4565-b321-0c4689c20734 CLINVAR:570456 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 171501fc-089c-4084-a1db-2f6558d84e29 CLINVAR:1687567 biolink:associated_with_increased_likelihood_of MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e87d452c-7089-40b6-9e07-5d568b7d458c CLINVAR:1687567 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0fcc04ec-b092-4b9b-80dd-e342071a6a57 CLINVAR:648917 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c5a13ea7-0a4c-4bd3-aa8f-d25af6e9f87a CLINVAR:648917 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8b974d87-c7f2-4f4b-8b1a-24b78fbc1655 CLINVAR:1067574 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 64bd4aa0-183b-4095-bd7f-858096bab222 CLINVAR:1067574 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 09923d01-1cda-40f9-87a7-56a2a4089f88 CLINVAR:972790 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c3ef0cdc-11f1-4f22-8403-7994e6ac0574 CLINVAR:972790 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 61e708eb-fd7d-4df2-b6b1-697676abef60 CLINVAR:982297 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f5423b53-8475-4952-9e19-f6bbda7ac011 CLINVAR:982297 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9b5125e5-aca7-447e-8856-ebed74c2674d CLINVAR:1037598 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7b102ad4-8f17-46b3-a043-b822051c93a1 CLINVAR:1037598 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b952fabf-8b8c-4c2c-9683-61f9f22b3b8d CLINVAR:92465 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 16eee4e9-0ac8-4901-953a-135b11d3495a CLINVAR:92465 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8396c33d-c847-4acb-ad83-e1090ed7eb10 CAID:CA913184761 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 44a788d4-0c7e-440b-8fec-cb0c6295563c CAID:CA913184761 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c27a70cf-b228-4de9-a66d-06874ac7f952 CLINVAR:1353052 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen dc3f2b1d-cd68-45c8-99e6-894eab9614de CLINVAR:1353052 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e3d14b5f-e3ce-4b89-8efe-f037cef51749 CLINVAR:11699 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4bf474d7-2ad6-470d-9a63-8102f38fc426 CLINVAR:11699 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ee4b7f54-b907-43f3-b84e-ddbb5b6fd3cd CLINVAR:520792 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b222c94e-2fed-4a01-a0ba-7cdd23252aaa CLINVAR:520792 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 84fe9ce5-6fe4-4ded-bbbd-59c92b445109 CLINVAR:430374 biolink:genetically_associated_with MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7f06b82e-db7d-4b1b-b8af-7ea2bbebb11c CLINVAR:430374 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4b2478ca-2a07-4f6b-b6de-fa6523c8903f CLINVAR:844968 biolink:causes MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 20725af7-fd80-4770-b58e-bd1128ab579f CLINVAR:844968 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eae377b0-8508-4d69-aa04-3efff4a66769 CLINVAR:916122 biolink:associated_with_increased_likelihood_of MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen de79f9d6-ba29-4452-adba-0bae114146c0 CLINVAR:916122 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fa44a516-609f-47e3-adb3-25e83224b030 CLINVAR:849693 biolink:associated_with_increased_likelihood_of MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 507d9d13-95db-4270-857b-b9cbcafb6fdf CLINVAR:849693 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 738cd62e-9c3b-47a2-8b7b-6e6c39a58b81 CLINVAR:939992 biolink:associated_with_increased_likelihood_of MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1c8829d5-7521-4d2b-a90d-b399e3b5eb91 CLINVAR:939992 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 812d56ee-b448-420e-ae3f-d14e72c67490 CLINVAR:2446451 biolink:associated_with_increased_likelihood_of MONDO:0012996 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 78ecedd3-7450-4650-bdd2-776516cb3a40 CLINVAR:2446451 biolink:is_sequence_variant_of HGNC:4175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b398fedc-44ba-4d6d-be59-6801cf1d544e CAID:CA415084325 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0e42e3e3-d0f9-4298-9e3c-f468b8f382e4 CAID:CA415084325 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3fb6ed8e-2a3d-4e44-b3e5-a33c2a41a4d0 CLINVAR:1211026 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 21d53db6-db82-4312-9e92-2b460ad1707f CLINVAR:1211026 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f6c075a2-4011-493a-b368-2161dd9db256 CAID:CA415079466 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ca34f53d-295e-420c-a0f2-ca5e9e899d9f CAID:CA415079466 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 95746c16-b410-42e5-911a-9f1d09085967 CAID:CA2573334474 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 46c0f18d-ceae-46c9-9c93-f9ee7f2363c4 CAID:CA2573334474 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8e9f95df-a3a3-45ab-aeae-ddfa98f22b89 CLINVAR:2446447 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8d373aaa-47b5-476e-b807-907c7f0de851 CLINVAR:2446447 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6dc83f14-b042-49a9-bcbd-771d185a38b1 CAID:CA2573334479 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8d3eea93-dbab-4c91-9b52-63109a3d02d1 CAID:CA2573334479 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d15ebea8-58aa-4e3f-8d52-4e1ead373f95 CLINVAR:392462 biolink:associated_with_increased_likelihood_of MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 205b0a35-884e-4ffa-b47e-31cac8580e57 CLINVAR:392462 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ee2d2081-e568-4c65-89ba-390831baa78e CLINVAR:689840 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fc4ea0a3-a3fd-4565-a31f-930d8555447e CLINVAR:689840 biolink:is_sequence_variant_of HGNC:7500 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 39c103ac-586b-4e3e-809c-85b52d19b521 CLINVAR:9573 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 43cdd18c-f584-4b5e-bd66-5572beab4036 CLINVAR:9573 biolink:is_sequence_variant_of HGNC:7481 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d125df46-5edc-42fe-97c7-00c6d7d12949 CLINVAR:689856 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f5315bf6-279a-4fde-b451-748638dcc2c1 CLINVAR:689856 biolink:is_sequence_variant_of HGNC:7490 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 121a1892-1d34-4392-9f05-1efa2ec932f4 CLINVAR:9683 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 935035ee-60dc-4018-bdb5-653152ddd2a0 CLINVAR:9683 biolink:is_sequence_variant_of HGNC:7427 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f7014929-5440-45e5-b9f1-9b4bfaca1f2d CLINVAR:628229 biolink:genetically_associated_with MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5f536455-dc20-4607-8a5b-ea4a4e0f19e6 CLINVAR:628229 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d6f86485-8f3a-4bd0-9a04-217964b0c3c4 CLINVAR:824698 biolink:associated_with_increased_likelihood_of MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a7e4697d-ff4d-4534-954f-490cdbe13d3a CLINVAR:824698 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c8c33564-2b0f-4658-8d74-a68b42836fb2 CLINVAR:217982 biolink:genetically_associated_with MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 301842c3-15d7-4afb-a6d7-74da3aba274b CLINVAR:217982 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 962eb0ce-c47a-488a-984e-7068c88fe16f CLINVAR:804 biolink:causes MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2b64acf0-3592-416f-89ea-b5bcb136bc08 CLINVAR:804 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 645c2dc1-5a5c-4d3c-9295-2061917563d3 CLINVAR:411469 biolink:causes MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4d19c653-c835-43a7-ba5d-f0794a0e8c57 CLINVAR:411469 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 46768da5-ded9-4652-ba20-6a82b068a338 CLINVAR:218000 biolink:associated_with_increased_likelihood_of MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6826c275-bdb3-4f44-a930-7e688fb202cd CLINVAR:218000 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c9cbf026-e5d5-4479-873d-a9990f723d25 CLINVAR:827113 biolink:genetically_associated_with MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 89cfc0eb-b74b-4b87-a73e-c5853a010109 CLINVAR:827113 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 678a99c0-d5a1-41c2-b573-598a00678354 CLINVAR:418007 biolink:associated_with_increased_likelihood_of MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d979a9de-d6dd-4f74-963a-96eb390c0ff1 CLINVAR:418007 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d903df35-0e58-407e-a059-193be0739b9b CLINVAR:184999 biolink:causes MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6733f1f0-fe2d-46a1-86f3-4cafc87ec97a CLINVAR:184999 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 830b1c45-3c42-408c-821e-39475c80bf4a CLINVAR:822187 biolink:genetically_associated_with MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2b8ccd18-5276-4ac4-8960-944d06186ce4 CLINVAR:822187 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3df953db-c77d-4b6d-b3f9-c2146a4f1289 CLINVAR:438864 biolink:associated_with_increased_likelihood_of MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3b6a8c76-1671-4715-96ad-6273e01faa62 CLINVAR:438864 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 05f94a3a-1aff-487b-ab38-518d6fc9af12 CLINVAR:826 biolink:causes MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6fb80269-f918-497e-a7d2-e0bcf7928a8f CLINVAR:826 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 81e79661-7fd1-465a-b79c-b7e226c71cf9 CLINVAR:230944 biolink:associated_with_increased_likelihood_of MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 70498a36-c791-47e5-ae2c-0166502e3f14 CLINVAR:230944 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ecaa49ba-0f49-4070-bdc1-feeea035385f CLINVAR:411555 biolink:associated_with_increased_likelihood_of MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2951312f-420a-438d-940b-3eef30dc099e CLINVAR:411555 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0e6ec758-0717-4027-9132-65d0feec6240 CLINVAR:649594 biolink:associated_with_increased_likelihood_of MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f7d14cad-b470-45c7-8fbb-e07e67c9ba84 CLINVAR:649594 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8be36dc3-fb48-43be-837e-6d35c7914810 CLINVAR:490221 biolink:genetically_associated_with MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9096189c-8fc1-4e97-8066-f9ba62d72708 CLINVAR:490221 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 667d7cb3-ad7b-4cbc-987a-7e9928fe84b3 CAID:CA658760617 biolink:causes MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 26661570-1076-4ffb-a42c-1aa8c10e84e0 CAID:CA658760617 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 00075494-c4bb-46b8-b1d2-53c857792050 CLINVAR:419202 biolink:associated_with_increased_likelihood_of MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7e42899a-515b-461e-b2cc-a532998b2e0d CLINVAR:419202 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7f70ab50-3d67-4985-aebc-17996ad810cc CLINVAR:428167 biolink:genetically_associated_with MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 929ad54f-7085-41e7-8096-dbdc8825c733 CLINVAR:428167 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6803bd73-58fe-4aee-a223-6c93fcb9239d CLINVAR:1393312 biolink:associated_with_increased_likelihood_of MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7773a7fd-7f2e-4336-950a-92c2be80acc2 CLINVAR:1393312 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aa963523-4c5f-4cfe-87e9-08f111a1117f CLINVAR:428186 biolink:associated_with_increased_likelihood_of MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f96ad565-42a0-4adc-9a1a-fbc5ccfd444e CLINVAR:428186 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9a9fef88-f0a3-46d6-a962-247af3d12b8a CLINVAR:469904 biolink:associated_with_increased_likelihood_of MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 89c1ffe8-ae27-4474-8ed6-2e398ff777e8 CLINVAR:469904 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a5d24009-5bb0-43dc-b235-6b579c7fb521 CLINVAR:233215 biolink:associated_with_increased_likelihood_of MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1f86014e-9a03-49cf-bf7b-f32e7bf5e314 CLINVAR:233215 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dd6c1942-890b-402a-afee-27fd762c2c4b CLINVAR:862543 biolink:genetically_associated_with MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 23764a8c-5f3c-4ae6-81ab-bbcceb828954 CLINVAR:862543 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a0369ff4-6572-46d7-a037-becf02058a70 CLINVAR:816 biolink:causes MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1681ce2a-0c54-4074-a983-f2ee02d2f5d9 CLINVAR:816 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c82f9e2a-8f70-4db6-b9ac-7db66bd55453 CLINVAR:140839 biolink:genetically_associated_with MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1caf2142-aa1d-4dee-bf75-33510324a3ea CLINVAR:140839 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 57a948e9-2b89-41c4-b78c-ce35690e4df5 CLINVAR:486786 biolink:causes MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7735d81f-cd78-4649-99ef-b2c696b7158d CLINVAR:486786 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e1087b45-e9b0-4257-a9b6-140fccb714f0 CLINVAR:411472 biolink:genetically_associated_with MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 339a6a11-766a-4c88-95ac-a86d80d0a911 CLINVAR:411472 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 064b5c62-e681-44c2-abb3-70dbaf68d9d5 CLINVAR:371858 biolink:genetically_associated_with MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 762b9ce7-58a8-4a7b-a36b-393d6d97efa0 CLINVAR:371858 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9c7f2f25-1cdd-4284-a13b-4931fe8e3106 CLINVAR:486740 biolink:genetically_associated_with MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 86972004-2475-42ce-b24e-5f62b5f50bcd CLINVAR:486740 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2f755066-bc6a-4ac1-b0da-ff880238a0c4 CLINVAR:950642 biolink:genetically_associated_with MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4325b758-a06d-43f1-8d9e-1672d8af6f78 CLINVAR:950642 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 87a7bfdd-fc05-457b-9c1e-f649c040cb04 CLINVAR:537703 biolink:genetically_associated_with MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1d633bb3-de16-4a33-9370-29f2e4b84e7a CLINVAR:537703 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 70c69585-4f59-41fd-840f-408a7f5f1cc2 CLINVAR:429040 biolink:causes MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c678a60e-8007-4f71-862f-8ae2e416e563 CLINVAR:429040 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 21c43cf1-c56f-41e2-b6e7-dc122644300b CLINVAR:642643 biolink:associated_with_increased_likelihood_of MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 69f1b0bf-96d0-48fa-a9ca-8382c8c33b04 CLINVAR:642643 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ea3622b4-997a-4c23-9db1-480d59036131 CLINVAR:9618 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2b2821e7-c4ce-4880-b3f6-aea86a7bc70a CLINVAR:9618 biolink:is_sequence_variant_of HGNC:7479 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 05bfe4ac-505a-4e13-add2-7e7cb9295b26 CLINVAR:9610 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 859c144a-5446-43eb-8552-f4f4b453bab8 CLINVAR:9610 biolink:is_sequence_variant_of HGNC:7487 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 54b0d88e-c04f-4f58-988f-f1153330b0a3 CLINVAR:9580 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c5da0707-f4cc-43b1-bd92-2dd36fc74c28 CLINVAR:9580 biolink:is_sequence_variant_of HGNC:7489 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2c46549a-8b0b-4110-bef4-27bb4495b19f CLINVAR:986496 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen afae1de2-30ba-464f-a8b3-72ca6819d6b5 CLINVAR:986496 biolink:is_sequence_variant_of HGNC:7491 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0d240a80-08a1-4b0f-bb51-bfd428f34ea2 CLINVAR:9616 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0cfc5fe0-c32e-498a-88f9-ae5be9287f9c CLINVAR:9616 biolink:is_sequence_variant_of HGNC:7495 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6ad4f0b6-9345-4052-83f6-8c74e0eed92a CLINVAR:9617 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen daa1270f-77ba-42d6-8711-7713f3ccc124 CLINVAR:9617 biolink:is_sequence_variant_of HGNC:7479 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d607666d-7132-4f2f-98f9-ca93bb2a9440 CLINVAR:102628 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 55eca973-6602-4617-bd2b-8bd0e5a8255c CLINVAR:102628 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9f18f99e-aef9-427b-9d1c-89815d13440a CLINVAR:1460083 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen dd217228-62e8-4dd6-a75d-950338e11bce CLINVAR:1460083 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cf751fc1-ebf4-47e7-8ce8-80f851aaf50d CAID:CA16020827 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b1ac1bc2-221a-4801-97d4-458bd09eb1cf CAID:CA16020827 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c07a953f-5b93-462a-91cd-f26fa9af2881 CLINVAR:986440 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f856b17d-9ae8-4f18-8c89-2cb2e132572f CLINVAR:986440 biolink:is_sequence_variant_of HGNC:7492 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 565a818b-2ac9-4614-968b-b0fe88e1815d CAID:CA386304171 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen bcfc51d6-d8ea-48bf-9416-09cc7bf09753 CAID:CA386304171 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 63becd2b-77ad-43ef-8cc0-06fd687a51a3 CLINVAR:102746 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ed752031-21cd-4d02-9b97-26567cbe46a4 CLINVAR:102746 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a0ef3bcc-64d2-4821-96e1-2021d6edf875 CLINVAR:576828 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 639227c5-99ea-4c76-9b00-9105d7cb4369 CLINVAR:576828 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b8181a4b-a5b6-4a90-9c27-bbb3c77892a9 CLINVAR:2573215 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8ad6446d-ad99-4e39-94a2-b858f5d5917b CLINVAR:2573215 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6fcd53c4-19c3-4b49-aa74-95d70ec74b90 CLINVAR:557365 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen dbd2857c-39b0-4a0f-b203-60d20d0bbaa0 CLINVAR:557365 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1f0871f3-c9a5-4630-8c1d-fd958db1845d CLINVAR:595611 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen bb789618-60cf-462a-817b-e31154cd0558 CLINVAR:595611 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 065005d7-fa80-4fca-9db8-cff632765e3e CLINVAR:102625 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a3bb0266-ab40-4030-ab08-be30207b81ca CLINVAR:102625 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b8ed7af1-b5da-4393-b17e-3292f8dfdd72 CLINVAR:9565 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 06445552-87af-40bc-bea2-0f37dda48fde CLINVAR:9565 biolink:is_sequence_variant_of HGNC:7497 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b9012606-3d73-4a56-921e-483a60c6c1e9 CLINVAR:9581 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b1b1d1a7-95e4-4a6b-abc7-f5cdaa448764 CLINVAR:9581 biolink:is_sequence_variant_of HGNC:7489 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 315cd759-91c6-4226-8ec4-0c244719e10e CAID:CA8602771 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0520af6c-d7b0-4872-a750-15ab38f5ce37 CAID:CA8602771 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cf2a30b4-b4a6-4a4c-9391-e34d7da916c3 CLINVAR:2498358 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 65d7a4e4-8797-4c2e-87bf-85eee768b9c5 CLINVAR:2498358 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5b66c408-882c-4b21-aed9-693be75b9c27 CLINVAR:2498360 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7e2e226d-2404-430e-8d3e-597c4aaad763 CLINVAR:2498360 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 75086d1d-68a6-4b67-86f6-0c6394923c1b CLINVAR:2498361 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3061a798-2394-4b8d-a8e9-f2ac0ef7d45c CLINVAR:2498361 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 432d994e-e527-4b59-a92b-8d8d133f86e1 CAID:CA915940807 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen cdddfd3a-f92d-4777-9673-1b8098bb48d5 CAID:CA915940807 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6f81897a-a355-4908-86b6-b2e838f37b53 CLINVAR:2498363 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 988a6b73-843a-4c12-9c18-815c093e2f82 CLINVAR:2498363 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f4edad29-aa87-4b03-862f-59bca0ec91ee CLINVAR:627094 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 09362d27-0f9a-4157-bcd2-cd91aa68a400 CLINVAR:627094 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f2e7171e-5363-462b-ac88-ca53c0d436f7 CLINVAR:634433 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 651c0b4b-624a-4544-8abf-3424edffa1b2 CLINVAR:634433 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 60cd41fc-1759-49cc-8364-addbb30aa99b CAID:CA16020822 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 08c331b0-8ff0-45f7-821e-9cca91a0d542 CAID:CA16020822 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 090dbb15-9c42-4ca9-9922-4a86c27b7ff7 CAID:CA409106289 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8b2597ff-76ff-4b82-a92e-c27969eadbbd CAID:CA409106289 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 23fea9b1-8d34-4202-9b04-180ee7de6a57 CAID:CA409105438 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a2861fb1-a504-4bfb-b0a2-07dd571c0889 CAID:CA409105438 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2f7610d3-285b-41bf-aa34-fd3695d7bd1c CAID:CA409104278 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5b3baae9-2196-45a4-8782-efcddbfa7303 CAID:CA409104278 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9e88f025-8b22-4105-a398-ae6c98eec88e CLINVAR:660424 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 42da1c9c-ed13-441b-9ac6-8c300b232ebd CLINVAR:660424 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e8c3e10e-c053-42e8-8c0a-e64b2e6e19d3 CLINVAR:932842 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 61783421-4184-4337-872b-000c6139d9e3 CLINVAR:932842 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2a613802-290a-4683-ad83-64b9fa5827bf CLINVAR:932852 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 690e77c4-c967-4ec2-8822-66fac090736f CLINVAR:932852 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4a49e34f-f401-4735-adc2-ea7fe233ba45 CLINVAR:932834 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d2b8ac8f-7b97-4bfe-98bb-ee3dc6ae58c0 CLINVAR:932834 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d48b3113-375d-41b5-a3ef-8da4cb267fc4 CLINVAR:932176 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5d14d954-6fdb-4ce2-9ca2-59ef61285c3a CLINVAR:932176 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 73fbac01-9abb-488e-8a2f-596e0713a668 CLINVAR:373427 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 46f5c804-dd5f-4fde-a4ab-ac44e7a2e4c0 CLINVAR:373427 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e3256083-728f-4352-82fd-d9fbb95073df CAID:CA1139533037 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen dc1348ea-f37c-4b51-97b9-4d3218ab4c97 CAID:CA1139533037 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 123ef999-f0ce-4d18-b1d9-95abc7de1608 CLINVAR:618219 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 97a05074-dd6d-450a-95b3-050b375ab988 CLINVAR:618219 biolink:is_sequence_variant_of HGNC:7493 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fbb5e8d2-7709-40f1-a61f-94c2885708ee CLINVAR:618216 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 41025c7a-1b81-4624-92e7-ce67cc48fafc CLINVAR:618216 biolink:is_sequence_variant_of HGNC:7427 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7a5f52c1-167b-4bf2-be0e-b51c2e8b1e71 CLINVAR:65513 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f394b279-10cb-4a96-85bd-1a6e66f6617f CLINVAR:65513 biolink:is_sequence_variant_of HGNC:7462 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f8e825c0-a0e2-4c0e-a03b-fee31a5b7c16 CLINVAR:9694 biolink:causes MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen dae9f80b-ee21-40a5-8c81-c88f41b3d676 CLINVAR:9694 biolink:is_sequence_variant_of HGNC:7462 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fbdfa039-6e0e-4dbb-abfc-c3e8749c782d CLINVAR:544251 biolink:causes MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ec1e1346-9909-4f83-ae1e-2dbc472c7349 CLINVAR:544251 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 223bb10e-d3d8-42d9-aead-ce19fdf9828f CLINVAR:1402763 biolink:causes MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen eb4dec4f-cc5c-4382-a98d-aa5575fc1dda CLINVAR:1402763 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2c7e26ae-9e86-4963-b520-a9842397ac38 CLINVAR:8305 biolink:associated_with_increased_likelihood_of MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6eb214a7-ca1c-41ba-b54d-76c23f81e15a CLINVAR:8305 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ce33ddd0-8f2d-4a8e-b41a-1358d659c2ab CLINVAR:2446454 biolink:associated_with_increased_likelihood_of MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 166f64b7-30aa-4f04-a036-d6e3d03e7bcf CLINVAR:2446454 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 29689b08-066c-43af-a26f-f31d6150a408 CLINVAR:2446455 biolink:genetically_associated_with MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 81f52041-5190-4ae8-92a4-fe345e3f9fd3 CLINVAR:2446455 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 823dafb0-150d-47fb-b009-50bc108cfde3 CLINVAR:2446456 biolink:associated_with_increased_likelihood_of MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b4e96f7e-d05d-4f2f-9ce9-fc137b5afaad CLINVAR:2446456 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8856983a-2722-4196-b920-5af19a13935f CLINVAR:2446457 biolink:associated_with_increased_likelihood_of MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 474296d0-cbc2-4a16-bd30-8b974ad93f03 CLINVAR:2446457 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1ea826a3-3e61-4221-8ecf-02fd88c9d7d6 CLINVAR:2446458 biolink:causes MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f0834bfe-4a42-4593-a8a0-6887cb0b1123 CLINVAR:2446458 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 056b9a46-0740-4431-80c3-adf3bb3ffd44 CLINVAR:2446459 biolink:causes MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ad0f6d12-b78e-440d-967c-dd364a5c0f4f CLINVAR:2446459 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f137a8b2-6867-4466-a749-2b16656ace0f CLINVAR:2446460 biolink:associated_with_increased_likelihood_of MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen bef405c8-4122-44bb-ba17-5c92e1926c67 CLINVAR:2446460 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b2c9ff0f-65e5-4ca3-97ae-74aab47296bf CLINVAR:1335317 biolink:associated_with_increased_likelihood_of MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 40474d03-1642-4bc9-a733-f13a086452ab CLINVAR:1335317 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 247c0924-71b1-4f58-acde-c1b05f8a0ab1 CLINVAR:1409758 biolink:causes MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e4cda146-b34d-486f-b353-834a60f65e6d CLINVAR:1409758 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6586b9b7-6313-4254-9751-6a88d2f376fc CLINVAR:1328978 biolink:genetically_associated_with MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b93d877a-56cd-467d-ac8f-6557e43123ee CLINVAR:1328978 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f0a3b135-e20d-4f76-b416-bb6d2185849d CLINVAR:9583 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c765a9dc-ba2c-48df-8071-2ef186e5c930 CLINVAR:9583 biolink:is_sequence_variant_of HGNC:7489 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 537afae5-f1f4-4236-97c5-f21ee8163f0a CLINVAR:9622 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 77bcd795-594c-4a41-9728-03b295a98bcc CLINVAR:9622 biolink:is_sequence_variant_of HGNC:7493 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d5234942-d09a-4d6a-9adc-6671836f0004 CLINVAR:9620 biolink:causes MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4d24d3fc-346a-4fe8-9b56-78e06bedaeb2 CLINVAR:9620 biolink:is_sequence_variant_of HGNC:7493 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 090cbfb7-29d7-4b00-b93a-181d4faafbe6 CLINVAR:986477 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 353d8937-6a12-42a9-b8dd-aeae40acbd9e CLINVAR:986477 biolink:is_sequence_variant_of HGNC:7493 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 90ef4025-0d66-422b-9e94-2d71e3a85c96 CLINVAR:9592 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8bccd5d2-1f97-4027-be86-c9d8c2a34eaa CLINVAR:9592 biolink:is_sequence_variant_of HGNC:7490 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 48589070-32a9-4514-8c2d-c760c11a9884 CLINVAR:393097 biolink:genetically_associated_with MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e9ecadb6-647a-4212-8450-8788e6156657 CLINVAR:393097 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a23aeb1b-6935-41ca-918e-bfa9ebe0eaee CLINVAR:440665 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f62af7fe-4b22-4dae-9139-66aa3622e0dd CLINVAR:440665 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a37a826c-1fbf-4239-a150-45d9fb23444b CLINVAR:251094 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 85ac2312-fcef-43cb-8b79-4714e1469864 CLINVAR:251094 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e0e462ad-44d7-421a-a655-8e7d0faf0666 CLINVAR:251095 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f19a1f00-b6ce-4a07-9f5f-5462abf65a0a CLINVAR:251095 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7b8c483c-5ff5-4188-a744-422ab2398962 CLINVAR:226310 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1cd0f707-8782-47b8-871c-5f75384917bb CLINVAR:226310 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2fa3f0f5-5c44-4147-a457-77f684d52743 CLINVAR:440592 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e7b400fe-dd70-4a62-a514-9835d12939e7 CLINVAR:440592 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4859e69e-729c-4373-8e84-e158a2894f12 CLINVAR:189298 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d87ae98a-94a3-4fa6-9c9c-8f2a64e6345b CLINVAR:189298 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a8942053-e32c-470e-8adb-50110f80dabd CLINVAR:251805 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1db50a55-54da-4b1a-8227-e4ccca1464d7 CLINVAR:251805 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3892f12f-e6ee-491b-80fc-4cb886526c58 CLINVAR:183128 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4199d043-dea9-4703-8b83-a54b72e584b9 CLINVAR:183128 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e7c912d4-3009-4a92-943e-7f80a13ba1ed CLINVAR:252127 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ef123ee3-d763-458b-bdd7-dd27322c0021 CLINVAR:252127 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aab59a42-6787-4b8a-a4e3-36ea440a6b88 CLINVAR:252128 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ec448612-17d6-4645-8447-39fdeb4d0b85 CLINVAR:252128 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c8b15dff-ee78-4cee-862f-1ba89bb6155b CLINVAR:251727 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen bc7565fc-7b59-4124-8880-39788d16d6ce CLINVAR:251727 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 22b9332a-a343-46e8-bf72-84fe2caf4b87 CLINVAR:252306 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4cfaedc5-fe66-4967-afe7-93570498c90c CLINVAR:252306 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ff146b48-f7c5-4021-a270-fc856f459132 CLINVAR:252340 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2cbd366a-e806-4e53-92da-9abde01fdf10 CLINVAR:252340 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aa74bd3f-9499-4bb3-905c-74be7d58c6ab CLINVAR:252341 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 95083267-5d9b-44e5-87c8-592889800f67 CLINVAR:252341 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2ac6d3d4-c1ec-4770-b40a-02a8304f53d8 CLINVAR:161265 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1ea8c9e8-fb04-4e58-9936-99ed2bd6a96e CLINVAR:161265 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8fb82ab2-33bb-430d-b26b-90c770b0a405 CLINVAR:440701 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 617ae86e-a3be-43e5-ba6f-ff706bde8a69 CLINVAR:440701 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d9ddddca-5c57-478c-8912-ec7a16dfa1c5 CLINVAR:252141 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1b4e4d2e-f850-466e-9b81-bd78f15ba45f CLINVAR:252141 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a0801f8c-d8f5-4ec3-96ca-e98f04172728 CLINVAR:430757 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 26c151f3-462b-4dc6-9bee-bdd21acd4fe9 CLINVAR:430757 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen da4e3491-37dc-4076-90a8-506d0e073651 CLINVAR:250942 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0e816f46-c63f-4135-b9be-b114a52fd080 CLINVAR:250942 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dc0f1f2e-7a4e-4586-b8ce-bf959d2c9f00 CLINVAR:440600 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8bcec665-4250-40d6-ab5c-38bc24fbe871 CLINVAR:440600 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a3ed5b82-ffdc-4aa6-af7b-f154dc619330 CLINVAR:431538 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen aa41e347-e3d6-46d0-b9fe-235ed06dea36 CLINVAR:431538 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 613acf3b-8f4d-4969-8428-86b75effd357 CLINVAR:440670 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen dccb4797-6011-4eec-9b0f-62f790d33164 CLINVAR:440670 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fea325b0-99c4-40f7-861b-16600fadb3df CLINVAR:251489 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 52edd47a-9331-4672-989d-4a3a2fe79a0a CLINVAR:251489 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e7c8e3e9-9726-443b-b36b-905bf106b4c0 CLINVAR:375809 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7320d618-0df8-4526-9adc-0016f5880ad2 CLINVAR:375809 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fa3d4b62-4e5b-46c3-91ea-8ae55ae6e92d CLINVAR:251606 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a2f5488a-fcdf-4015-90bb-d280844ccadd CLINVAR:251606 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 89769993-72de-4ec7-a033-0a711d5e8228 CAID:CA386493486 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7d490870-6c03-4076-a8c4-30b80b793bf2 CAID:CA386493486 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3d9d9026-b9c0-4e7d-96b9-bd1e17f81b6e CLINVAR:102810 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f8df6951-dc4c-4359-a7aa-86bff52384bf CLINVAR:102810 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b0b8315f-6a04-4774-a0bc-337317b755be CLINVAR:9563 biolink:causes MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 49626022-9484-4800-bfd6-95a8b1abf2e7 CLINVAR:9563 biolink:is_sequence_variant_of HGNC:7497 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c791c01c-8fc6-44e9-8c7b-c2746902806f CLINVAR:9688 biolink:causes MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 389e8946-5a9a-484f-8267-e6a56b4a3280 CLINVAR:9688 biolink:is_sequence_variant_of HGNC:7462 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1586cee8-0a84-45e0-92a7-1c44cfc25666 CLINVAR:9570 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0e1a0a1f-5db4-40a3-a5d6-9324fd61aa50 CLINVAR:9570 biolink:is_sequence_variant_of HGNC:7494 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 657af195-176d-4822-a235-4774b7dafd7b CLINVAR:9560 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2215afbb-76b7-4096-8023-aa3aea8ed15b CLINVAR:9560 biolink:is_sequence_variant_of HGNC:7498 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b17ae12c-3738-4f16-8eef-db2f2934bb37 CLINVAR:2498105 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen dc315818-d8aa-4c36-92fc-eeee585c58af CLINVAR:2498105 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4eb3d996-04af-438c-a74e-5ec5198435d5 CLINVAR:2498110 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c620276f-3556-4187-a833-4649e147eece CLINVAR:2498110 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a6a504bf-1b78-4fdd-b26f-c9670d534e26 CLINVAR:2498112 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1f221cac-9d5b-4d4f-b9c2-da968df29654 CLINVAR:2498112 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 42cebd03-43b9-4bad-9cf0-49cca340e0e4 CLINVAR:2498113 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2abf9578-fe1d-44d8-87d2-2744b36cee3f CLINVAR:2498113 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eff5e15e-b00b-41ff-a069-a1ce5e65a03f CLINVAR:2498114 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ea94410f-63a7-494c-a628-8345b9d1700d CLINVAR:2498114 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 467b75fe-4d7f-43fa-9f2c-604c535e782a CLINVAR:1698837 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fcb9b420-f81b-4c40-a0a1-eebdf5f9b94e CLINVAR:1698837 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 76314956-1dbb-43b5-b90a-3a541a872292 CLINVAR:2498115 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 312866fa-8d64-4d3f-bbb5-d48b409372a8 CLINVAR:2498115 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d5bc7a1d-7e4a-4378-8391-cedd78000117 CLINVAR:2498116 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8dfb18f9-9327-45e4-9ac4-2cf0e7b4b49d CLINVAR:2498116 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1c12ed51-d8e5-4988-8d4d-fdd52a5b6270 CLINVAR:2498106 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen acf96f13-f4be-4273-a61c-4137eb9119c3 CLINVAR:2498106 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8167b122-b7a5-4fac-927d-68775e819073 CLINVAR:2498107 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1104b59f-c64c-4780-b30a-5b148733e813 CLINVAR:2498107 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d62160aa-cac7-4d45-8925-f55f5f688821 CLINVAR:2498108 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e6a45c3e-53b6-4b42-a2c9-1d33b41aa9d9 CLINVAR:2498108 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fb8870a2-9a5c-4280-bf8e-7d888a3e1484 CLINVAR:2498109 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2968962a-4fb6-45fc-ac37-6b2776b779b1 CLINVAR:2498109 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e9e0dc4c-0a25-4f27-8e02-a8a90bbad646 CLINVAR:293712 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d8d1c60c-acd2-4494-9b47-bd9c8577d93c CLINVAR:293712 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9a11926c-aed6-4718-8904-2d69d111b1c4 CLINVAR:133063 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1f0b7218-7462-46f0-95bb-a86033669ca4 CLINVAR:133063 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 997c7d8d-67fd-4b40-b03a-0cdb0510b0bb CLINVAR:133059 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen bbbd7cf6-07a5-490d-b994-8abaf0570276 CLINVAR:133059 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8c1be9d5-394c-4bd0-b844-7f3589f71517 CLINVAR:133069 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 72f7de3f-4f89-4754-894b-6c3570fc8243 CLINVAR:133069 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3930a2b7-d135-4be7-b079-00e3a7b9cf4e CLINVAR:1213826 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ee2cf1e0-5ca9-44da-b733-c3aa4337ed0f CLINVAR:1213826 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fdcb5c1b-12c0-4b7d-aaf9-75acc38dc98b CLINVAR:224402 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0faed9cd-c713-46a6-9afc-bafe7e02f9a6 CLINVAR:224402 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e846826e-7c1a-4b9e-8082-7beedf40b454 CLINVAR:1018682 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1a0d1b50-106d-4281-adc5-c555b66df87a CLINVAR:1018682 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c254a5c3-1d1a-408e-99d5-ba783ef4b47d CLINVAR:141972 biolink:genetically_associated_with MONDO:0700272 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3e03077d-27a4-4572-bb39-b7f5979b1aa4 CLINVAR:141972 biolink:is_sequence_variant_of HGNC:26144 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 96f93f43-feb9-4a8b-bb8e-1999afefb13d CLINVAR:830187 biolink:genetically_associated_with MONDO:0700272 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f06601f1-3a53-4778-a8de-b4faadef1e6f CLINVAR:830187 biolink:is_sequence_variant_of HGNC:26144 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e7fa32d2-db16-4f7e-a6bb-272dffaa6f9a CLINVAR:232594 biolink:causes MONDO:0700272 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ee479dee-f805-4972-aed4-b624cf0409e1 CLINVAR:232594 biolink:is_sequence_variant_of HGNC:26144 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 05aa4b0e-e9f2-4756-88d7-d00815dee039 CLINVAR:492220 biolink:genetically_associated_with MONDO:0700272 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 81fd1e17-6915-4796-928e-98e4da5ba5d7 CLINVAR:492220 biolink:is_sequence_variant_of HGNC:26144 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 29a4c5aa-4192-44d7-8327-1dc6c9d4ea83 CLINVAR:944799 biolink:genetically_associated_with MONDO:0700272 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a06cf89c-d635-4313-97e4-d25ce63ded0d CLINVAR:944799 biolink:is_sequence_variant_of HGNC:26144 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2e585b00-a0ce-4669-8af2-432ea8afa1db CLINVAR:580962 biolink:causes MONDO:0700272 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 55c82979-f44a-4c25-9130-54a66fdf27b1 CLINVAR:580962 biolink:is_sequence_variant_of HGNC:26144 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2f7fb5a7-723c-4b06-90cf-268253671913 CLINVAR:241572 biolink:genetically_associated_with MONDO:0700272 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7e8b479b-5d6d-4dd8-ab04-a8295bc15c11 CLINVAR:241572 biolink:is_sequence_variant_of HGNC:26144 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3ace8096-27fc-4467-aa06-4455c15b2395 CLINVAR:657328 biolink:genetically_associated_with MONDO:0700272 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 310db11d-0d68-4b72-99d7-301ed4066803 CLINVAR:657328 biolink:is_sequence_variant_of HGNC:26144 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3153cb98-47d5-4e58-81ac-1e49f939cf05 CLINVAR:818335 biolink:associated_with_increased_likelihood_of MONDO:0700272 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a97b9601-d00d-407c-bb4d-852b5feab52f CLINVAR:818335 biolink:is_sequence_variant_of HGNC:26144 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d5da29b9-759d-4670-adca-719671203393 CLINVAR:185108 biolink:genetically_associated_with MONDO:0700272 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b738556b-a283-49ec-9ee7-5fc53f3b6275 CLINVAR:185108 biolink:is_sequence_variant_of HGNC:26144 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5f147c29-25b1-4a35-a4d8-80c68de5657b CLINVAR:126609 biolink:causes MONDO:0700272 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0ed1a272-0504-458a-86f9-7c04e964ebd3 CLINVAR:126609 biolink:is_sequence_variant_of HGNC:26144 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3a483a51-c0d6-43e5-a755-1f9908a1d21b CLINVAR:482029 biolink:genetically_associated_with MONDO:0700272 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 733ac402-8af7-4130-8420-f196d2a14181 CLINVAR:482029 biolink:is_sequence_variant_of HGNC:26144 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9b72c281-2c31-46c1-97c9-468f25541471 CLINVAR:143966 biolink:associated_with_increased_likelihood_of MONDO:0700272 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 51c948ca-ec0e-48b0-bc29-8df1d68c9e4f CLINVAR:143966 biolink:is_sequence_variant_of HGNC:26144 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 012bc277-7233-4a78-bd0e-bbbfab590038 CLINVAR:186990 biolink:causes MONDO:0700272 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5866918f-240d-4e80-90e0-7b7158c7daf5 CLINVAR:186990 biolink:is_sequence_variant_of HGNC:26144 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0eba0802-c30a-48a3-a863-5b4df3cb3035 CLINVAR:126660 biolink:associated_with_increased_likelihood_of MONDO:0700272 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c3283dea-bf97-41fc-a0f1-358f23007e85 CLINVAR:126660 biolink:is_sequence_variant_of HGNC:26144 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ee31cdee-8951-4f53-a599-0804e53a7947 CLINVAR:2498117 biolink:genetically_associated_with MONDO:0700272 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e251bf6e-a4cc-46a6-bd80-71f1ba4b87c6 CLINVAR:2498117 biolink:is_sequence_variant_of HGNC:26144 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 54dde58a-7547-4605-a961-8405e884e857 CLINVAR:1453402 biolink:causes MONDO:0700272 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b6f4119d-8b8a-4263-ac01-f84d3de9b2a5 CLINVAR:1453402 biolink:is_sequence_variant_of HGNC:26144 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0d291411-532d-480e-adc4-59bfa8d5109c CLINVAR:187262 biolink:genetically_associated_with MONDO:0700272 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 33919266-cb69-4ed5-9e38-4721f162dc38 CLINVAR:187262 biolink:is_sequence_variant_of HGNC:26144 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a9992133-5b13-48da-ac0c-f8e6af429d7d CLINVAR:232977 biolink:genetically_associated_with MONDO:0700272 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen da35b488-ad98-4653-bf9b-17d34623b289 CLINVAR:232977 biolink:is_sequence_variant_of HGNC:26144 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3e6164a3-6554-442d-9c3b-7486e101f381 CLINVAR:126711 biolink:causes MONDO:0700272 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen bf9f611f-1228-4869-a79a-46a1cf31c2af CLINVAR:126711 biolink:is_sequence_variant_of HGNC:26144 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen efbfd9fb-e856-4778-b7b0-05085b069995 CLINVAR:126737 biolink:associated_with_increased_likelihood_of MONDO:0700272 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 35874db7-e320-4676-a790-54d783fc4f1a CLINVAR:126737 biolink:is_sequence_variant_of HGNC:26144 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 378056cb-d66b-42bf-bb56-4bac6fde7a9a CLINVAR:126739 biolink:associated_with_increased_likelihood_of MONDO:0700272 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4f2d6a01-8422-484b-becf-0b3fc48b38ef CLINVAR:126739 biolink:is_sequence_variant_of HGNC:26144 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1f072e65-4510-4f88-b4e7-758a44ed01ee CLINVAR:2498118 biolink:genetically_associated_with MONDO:0700272 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 093151db-8428-4553-8836-619ae4c29a2c CLINVAR:2498118 biolink:is_sequence_variant_of HGNC:26144 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3508274a-5382-4265-8f90-087c844ba450 CLINVAR:128144 biolink:causes MONDO:0700272 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5988b437-d31f-4273-b7c0-5349f3a640b0 CLINVAR:128144 biolink:is_sequence_variant_of HGNC:26144 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eca1e400-e2e8-47f1-98ab-8fbe5c33be58 CLINVAR:186820 biolink:genetically_associated_with MONDO:0700272 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d48b1d96-69af-4edd-a823-c8bf8095bf16 CLINVAR:186820 biolink:is_sequence_variant_of HGNC:26144 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d6180dff-504b-4a08-a0bf-7337a25bfcd2 CLINVAR:461007 biolink:causes MONDO:0700272 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 800460f5-6d73-4fae-8076-6bffb1220e6e CLINVAR:461007 biolink:is_sequence_variant_of HGNC:26144 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e51f950e-8c28-4061-91ea-3022ddefcaa9 CLINVAR:484222 biolink:causes MONDO:0700272 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen bdd0761e-43f2-4467-ad87-b95f81b4d369 CLINVAR:484222 biolink:is_sequence_variant_of HGNC:26144 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dbeb206f-83ae-424b-9be7-4fb72c777253 CLINVAR:241571 biolink:causes MONDO:0700272 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d0222edc-e4fd-4a72-afc9-2fb0d1b1f43d CLINVAR:241571 biolink:is_sequence_variant_of HGNC:26144 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7e34f945-af76-45bc-9a82-32f99e2e0411 CLINVAR:410148 biolink:genetically_associated_with MONDO:0700272 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c1e7f04c-5507-469e-8f34-c67f1f6e27d4 CLINVAR:410148 biolink:is_sequence_variant_of HGNC:26144 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 77fa0b8b-03ec-4110-96de-96d4730fd6d7 CLINVAR:480243 biolink:causes MONDO:0700272 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 51fff46a-7026-474f-9fd4-ada7ec44df24 CLINVAR:480243 biolink:is_sequence_variant_of HGNC:26144 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f6b5ed93-55e2-430e-a652-197773a9bdd3 CAID:CA399789759 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen dbc158b3-1dca-4133-941b-ef5528fc8d73 CAID:CA399789759 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 16e8f0c7-b8d3-4a16-bb4a-1bdcae3cad9b CLINVAR:2498366 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 35c52e6d-5783-4362-ab29-285ca8768f4c CLINVAR:2498366 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 43b9a6b8-a4ab-4af6-993d-288f7f75b741 CLINVAR:2498367 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 808e61cc-6586-4081-91e2-bfe0ee6d9cd4 CLINVAR:2498367 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d1a4b1f3-5119-4af4-801d-94d2b22d6b00 CLINVAR:374016 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3cf44464-e1c3-450e-bfde-0f85813d93a0 CLINVAR:374016 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5588c2a5-59aa-4d44-b4a4-776c8d21e791 CLINVAR:374015 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4baca654-36dd-483b-b451-d8c05fa6e0e4 CLINVAR:374015 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5f8b9843-9fba-4ed8-8343-416c53733c51 CLINVAR:2498368 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 86891a60-6dc3-44b0-83ef-60b8ea2aa2ff CLINVAR:2498368 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0e620042-a9e7-4fae-b72c-a73a3a487a83 CLINVAR:2498369 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 248d6dd7-239c-450c-9680-94ae9bdfadd7 CLINVAR:2498369 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7f0a6c7d-2da9-4cee-8f63-0bc3304d8d0c CLINVAR:2498370 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen cc558227-edea-456d-9e43-eaf57d89fe10 CLINVAR:2498370 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 44cc6052-a2ff-4302-841e-4e6b48abdef1 CLINVAR:2498371 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0e39d29f-4a4a-4490-9f52-16c78c59ff2b CLINVAR:2498371 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 955ee2cb-e2b4-4b52-b4b9-55ea104b2093 CAID:CA626684826 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 778429ca-0598-4d1c-85dd-56388872b07d CAID:CA626684826 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2cd5fe84-db0e-4230-a944-8def332d6337 CLINVAR:133058 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fc465648-5f5e-4bb6-9bcc-8aab672e4e97 CLINVAR:133058 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen adde3d24-19fe-4b58-885f-19a9a8b24e62 CLINVAR:474888 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 943ead98-0254-4878-b5c7-293cd2883daa CLINVAR:474888 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ed7e221c-ef96-451a-9e5c-21dc958ecd29 CAID:CA891834518 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 539d834c-a462-4292-91f8-4ee59cbb0514 CAID:CA891834518 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e081481e-b784-428e-8551-14589b72c373 CLINVAR:932828 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f4f93e4f-7e81-4445-b546-576b1bf904fb CLINVAR:932828 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 45e0766d-7c85-4285-9a07-e88c42d5a5db CLINVAR:252000 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 031aea6e-9d8b-41ea-9a4f-17c3f9b2ba02 CLINVAR:252000 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4d0111c0-7d52-4238-9d1f-f5a34db91126 CLINVAR:406163 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e7b82baf-9895-4574-b396-d766625e6473 CLINVAR:406163 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9d1811e5-efc3-4b46-adb6-c81932cf0b68 CLINVAR:226343 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 458e929f-725a-4dea-854d-95510fcc153b CLINVAR:226343 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 003041a1-e979-4cfa-a552-ee2a54dd0056 CLINVAR:689349 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8852a8c0-4280-4dfd-859a-2afcb6feccda CLINVAR:689349 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 48609244-d532-4ea0-bd37-3bb1cdec9a14 CLINVAR:440698 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8e30028d-9bfc-44b4-9eb2-54db4f2a9a56 CLINVAR:440698 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7140c2cc-e753-45e3-b786-0230ea72ddd0 CLINVAR:440697 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7c38355d-33ac-4a94-b460-effedc7b9d22 CLINVAR:440697 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d6bdc74c-0d4e-4da6-acd5-39107ea28183 CLINVAR:252321 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d8e435eb-0627-4a81-94b6-ebed47ff10b8 CLINVAR:252321 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4f7cf682-fae2-445b-a680-26b02c6cd3e3 CLINVAR:251850 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4c43d85d-39c6-4f53-8238-933e73ea8058 CLINVAR:251850 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a02dae2d-413d-463a-beac-7682a9fabaa2 CLINVAR:440645 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 53f6c4e8-a778-4314-a984-b7d388672865 CLINVAR:440645 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 37ca9dc9-9f0c-4447-8961-05d9d94a2208 CLINVAR:251847 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a084eb12-84f9-4b55-9e33-abe4223d6f06 CLINVAR:251847 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 70d96dea-4c04-4f22-9fe7-1ef1335bd384 CLINVAR:440646 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e4a3c7d9-d449-477f-b1e4-e7c43b293f98 CLINVAR:440646 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen edcd2502-cf21-4b8c-8203-ba8658bcedf3 CLINVAR:430740 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8de53410-db5d-4dbf-854b-e91c026198be CLINVAR:430740 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bdfb0369-3b52-4732-b203-378c14d591c5 CLINVAR:251649 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 34c7cb92-20fd-4a39-a5ab-4f505904f693 CLINVAR:251649 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0698bacf-0535-4dd3-ae2a-19bd0986f246 CLINVAR:431519 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ce646e02-17d4-41b1-aa3c-37ce9a210bbd CLINVAR:431519 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cab643d3-c8a8-4839-ada6-1d17982b4ca5 CLINVAR:251651 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f6b1ea6f-68d2-4a4c-a31a-445ce5ed9cf5 CLINVAR:251651 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 03b12a41-b550-4d5d-8891-eaa8a61a7f7e CLINVAR:431508 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen dc54224b-81c3-409b-b712-2de4f49fae61 CLINVAR:431508 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b91e248a-99b7-44b1-8b0c-ae57758798bb CLINVAR:251127 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3caba348-76c5-4560-aca2-35832c7e569e CLINVAR:251127 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6dc22fd8-4221-4ab4-9bf2-b6277ceeb155 CLINVAR:251537 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 48251d21-7cae-432d-a815-7acfb27be067 CLINVAR:251537 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3f0e40f7-d644-4237-9c28-acbb99722333 CLINVAR:161280 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen baf5cebc-871e-4890-a482-511adf536a47 CLINVAR:161280 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e3b6dbe2-7ca9-4f76-8e4b-c3f150f4e0e8 CLINVAR:251519 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 303fbdb0-13c9-4059-af35-e5276d28443a CLINVAR:251519 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6701fa8d-6d75-4290-ad6b-ac2e2b5f7fe8 CLINVAR:1437514 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0a4f9c91-feda-44f7-b37a-301478ef47f0 CLINVAR:1437514 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dbf36f3d-99df-4f60-97f4-951657bf1a2d CLINVAR:251521 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen eb24b66b-c9c6-4423-b1a9-20df7a03b93c CLINVAR:251521 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4aff406e-eca8-4103-8105-94207bbdd94d CLINVAR:251081 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen bd94a4d8-65d2-48a4-b4d2-9b3775bb8653 CLINVAR:251081 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1c25aa94-2c81-4c2e-9f4e-1d3080c4294c CLINVAR:1331775 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d5000097-49bb-4213-bf75-fcce0fd2ae72 CLINVAR:1331775 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dd9690fa-c264-4219-bf80-c07c28eb281c CLINVAR:251362 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2fb7c649-e4ae-422d-b3fb-59a39d040b17 CLINVAR:251362 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 63a376e6-bd66-4aa8-822c-ba3922feb9d0 CLINVAR:440599 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 82cca682-84ea-49d5-ad69-44a9684cbcf9 CLINVAR:440599 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8bb530bd-c0ef-4707-9b04-7d82bf6c74a9 CLINVAR:417370 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 13ce7e0d-6794-4c18-8626-3d4ba4ca2a24 CLINVAR:417370 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ebc143a9-d535-491e-a68d-099f64e7082a CLINVAR:369855 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e2705b7a-ed6d-4964-82b7-64afff951af1 CLINVAR:369855 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d8669c65-76fa-49a4-9961-98ca16e39949 CLINVAR:431513 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6690f007-1861-4c09-b5cd-9def4990990f CLINVAR:431513 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c2449c0f-a302-45f4-9c56-35f5f180f433 CLINVAR:251223 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 936f79f8-a3f6-4962-a7e8-f97268f60440 CLINVAR:251223 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 11d8ad4c-a4ae-4b8a-94ff-b275f45602a4 CLINVAR:183098 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d88982d7-8ff2-4cad-9c2c-f2ba78733b93 CLINVAR:183098 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7b4881c7-8a1c-498d-bc2e-ad9157848f5f CLINVAR:977996 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4e401f08-cfc9-4fbe-bc74-d65a7c215240 CLINVAR:977996 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 29461b24-7894-4151-926e-2953723ac5f7 CLINVAR:977997 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 709171ce-77f1-4a63-b69d-48759b2d3d7e CLINVAR:977997 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen db1ebcce-3412-42e9-a5aa-c60f73ec3f96 CLINVAR:1466547 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b890bb83-2116-41e7-98cd-0b18c6459efb CLINVAR:1466547 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b841c463-7605-419f-9402-da68c3b9677d CLINVAR:431547 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ce2b42c8-a3f3-4273-b20b-526ee119b230 CLINVAR:431547 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c01d4fa9-65ce-4449-a37e-343260f03025 CLINVAR:251691 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 10adcc15-dee6-4041-a3ac-ce5094e470ff CLINVAR:251691 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 79e28935-7b73-46e1-9a51-2158a3439699 CLINVAR:440626 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2dd3315f-abf3-4f1a-961f-c89afc4f8ada CLINVAR:440626 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5ebee548-d613-46ac-be58-e41da23eac91 CLINVAR:251692 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 53f05041-f021-4fb0-ba44-06f2aed2115a CLINVAR:251692 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6aeb16b6-22a6-4895-a782-fab687845b27 CLINVAR:252120 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 99460424-f7ef-4b26-a593-fe0f7fd50b85 CLINVAR:252120 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fe708233-d862-4c16-9f19-1cd65795dbc2 CLINVAR:183106 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f87cee4c-2173-486c-adcc-afcd877c65e7 CLINVAR:183106 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4f6a0e2d-c74c-42b9-95e5-5fc115c149cf CLINVAR:440618 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 96338f60-9ebb-41e3-929b-9f6671b6e06a CLINVAR:440618 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 289868ad-b850-4642-a4be-88ba4663655b CLINVAR:251605 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ce9b9316-2730-4718-9d63-1759a2692b30 CLINVAR:251605 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f4fcdbb9-9952-4c60-8c95-3533f57a5443 CLINVAR:251406 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c0ea840d-744f-4a7d-b6e5-7bb5793176ed CLINVAR:251406 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2ee9a7e4-1ae2-44af-9bc8-e36036873cbb CLINVAR:440623 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f57303fb-bb1f-4e99-8fc3-edef993d3bdb CLINVAR:440623 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c33c94dc-d382-472c-8351-7d1c9ac849b7 CLINVAR:251645 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b678b4e5-b749-4908-8a6e-86f3c8a9749c CLINVAR:251645 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e6cde7e0-6d04-48e5-aa2b-cfe71d898248 CLINVAR:183114 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 94169a61-2a69-4430-94bc-8165297dfab3 CLINVAR:183114 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 233ae1ec-a544-4f7e-8f34-5435ea696af9 CLINVAR:226332 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 24dc8451-397c-41fc-8ca9-d124523d88bc CLINVAR:226332 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a3162835-db2a-420f-b073-7f851bd0f7c0 CLINVAR:251735 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 68449d2e-09c7-45f2-9839-d2e0fd922dfa CLINVAR:251735 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3aee37f1-1298-48d8-83e3-8ad5d380e260 CLINVAR:431523 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 35aa7969-72c9-4d85-81be-a446e222bac2 CLINVAR:431523 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1e023259-a523-492a-bb9d-763059cbcc73 CLINVAR:369861 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ff02f1c1-bdf4-4ddd-91c8-606cb19609ef CLINVAR:369861 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 170ceeb1-8450-414d-9a3c-e9eafb306149 CLINVAR:252033 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7cda8045-72b1-4515-8ec7-033343894fa2 CLINVAR:252033 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6633a7f8-9f2e-4787-986b-2ba12c15a698 CLINVAR:252032 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8ed62541-81d4-4044-950a-019bed3db53e CLINVAR:252032 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 21274e86-234b-4af0-b5a1-2ea2feb3b059 CLINVAR:226402 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1d9de09f-74ff-42d6-8566-56273a781a52 CLINVAR:226402 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 14e0ed9c-fdab-44c2-bc64-842b7c2fa805 CLINVAR:251425 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f194405d-578c-4304-8d89-57f0d399df64 CLINVAR:251425 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 19afa069-7af1-49eb-9ac4-6afc5f721d45 CLINVAR:251121 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 68df1cd0-5b91-4c5d-a721-fe889b315c7c CLINVAR:251121 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 955ab208-781d-43b1-9c10-1df4370259d7 CLINVAR:251122 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2039d1ba-7ecb-47b8-9c34-fba3f962b15d CLINVAR:251122 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5cb17512-0bed-419e-be7e-30cb40f9d6c1 CLINVAR:440556 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 15fdd481-a409-480c-9361-05dbcb91b1c1 CLINVAR:440556 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c5534230-6572-48d6-9430-c6cdad3c1228 CLINVAR:251583 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d059229b-57d7-4da5-b668-4005d2116349 CLINVAR:251583 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e7c3e421-ed7f-4e8c-9909-3bf7857eef3d CLINVAR:918325 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9977391c-3a23-4cc7-aa54-e44dabdd4108 CLINVAR:918325 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f041e766-b0c9-4a67-8454-e35c28558b3c CLINVAR:403665 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 73362d10-663c-45a9-942b-761537779cfb CLINVAR:403665 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b1574766-59da-4d6f-931e-fee0428c9748 CLINVAR:36452 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ba4f8fbe-1097-4b4d-b3fd-b7d5db023422 CLINVAR:36452 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 79ed50a2-fd9e-4eee-867c-da01e192e790 CLINVAR:183083 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 458b8524-7b2f-4f08-9095-c3a448143070 CLINVAR:183083 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6e396703-fb41-4b1e-ad64-af295c442112 CLINVAR:251088 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 645b5d2d-c94c-4ca2-a229-7a79ff4545fe CLINVAR:251088 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 11b77368-8de6-4f8e-8c47-1f09e19c0ae5 CLINVAR:924271 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7c69a884-38a7-4fc3-b387-8fc585acebc9 CLINVAR:924271 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9cbde645-af0c-4727-9d26-4eacb4c3496a CLINVAR:251828 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ebb43a22-56ec-4d88-8075-e0102064c268 CLINVAR:251828 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 64f0ee0d-51ff-4977-9038-33644ba9f071 CLINVAR:251894 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9607d560-8d81-4fb7-836a-4c2f7a9173ad CLINVAR:251894 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b3056bde-fc67-4aa8-afc1-dca7e6813c37 CLINVAR:183105 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c0f7eae8-a865-4bd0-9b40-bd1b514a2f7f CLINVAR:183105 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen af3657c5-8200-42cf-883c-54b2dfa2a9a7 CLINVAR:926520 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f85995d7-3d9e-4f4c-a59f-3eca5a3c435c CLINVAR:926520 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c28043e6-12d3-409a-ae37-f1599412d91e CLINVAR:225181 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 657f529f-a5b7-4628-88eb-6abf54e046ab CLINVAR:225181 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dc3aa6aa-f0a5-46d4-ae46-565baf144cba CLINVAR:251587 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5b77acc7-6294-43ed-a82c-17311aeb4a20 CLINVAR:251587 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c20fe951-de40-434a-b945-155ee0c12e2b CLINVAR:226299 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0812b9ce-c59e-47c4-a228-74c606b0b0b4 CLINVAR:226299 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e494f6c0-3647-4ae6-9c15-9dcb8776282d CLINVAR:1395739 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 70e863cc-0763-402f-8813-7ec493e2c58f CLINVAR:1395739 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 459f354b-7302-4d49-a401-2b2c8f6c58c0 CLINVAR:2500836 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen be99077c-02e5-450a-8d27-f1f37301b14e CLINVAR:2500836 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 78936c85-3194-4fae-8d4a-ca58cbf1b2cf CLINVAR:2500835 biolink:associated_with_increased_likelihood_of MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen fb022238-63fe-4f46-8ba3-8af05dccf1f9 CLINVAR:2500835 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2b61f2eb-ef8b-4798-85e6-02a2105172b2 CLINVAR:2500837 biolink:associated_with_increased_likelihood_of MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4d11ddd7-5515-4881-96ec-899cfffe2fb6 CLINVAR:2500837 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e6f5089d-ca24-4fe0-acb0-0d64af4a8555 CLINVAR:806282 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b90e7d1d-6c26-4023-acd4-a8ee0526c8ea CLINVAR:806282 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aeede588-3519-41f5-a4af-d74d30069e43 CLINVAR:2500839 biolink:associated_with_increased_likelihood_of MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7b02f49a-abf0-4c67-a303-a1d1e1da568e CLINVAR:2500839 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9e4ab6f8-b9fa-43d2-8731-02cc53ab6fe8 CLINVAR:2500840 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f870dbee-109f-46af-b630-9f21df9748fe CLINVAR:2500840 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 07a26047-f239-4add-9e71-79a4b9badb6a CLINVAR:2500841 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9fc48099-fdbd-4ac8-af78-cf4b44eb82c9 CLINVAR:2500841 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9a3c3905-2d59-4398-ab89-e6a8b398c254 CLINVAR:875032 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 21d8ee0e-3543-4951-b27e-92e063c83c59 CLINVAR:875032 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 374723ba-a7d7-43ed-98d1-e8bd12538722 CLINVAR:1173106 biolink:associated_with_increased_likelihood_of MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b8b68d94-54dc-4420-8d30-e73511c5e804 CLINVAR:1173106 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3bbef03e-4033-4444-ab0a-fd5dfa3f2c60 CLINVAR:2500832 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3be686cd-f6c5-4e70-9516-d4f538548431 CLINVAR:2500832 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4d364cfe-1f34-489f-b951-de073b14d621 CLINVAR:2500833 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9ce5f100-6298-4bab-af6a-2ec4b5306fa3 CLINVAR:2500833 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b696af4a-5822-459c-91d9-3bef5d0f0fe4 CLINVAR:1048923 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5bc96e9b-952d-4bf7-b677-0865a27b979f CLINVAR:1048923 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2659a276-5eb9-4d12-af1d-473f08782a24 CLINVAR:1302992 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6306c8c8-f73f-47c7-ab61-07309c7011c4 CLINVAR:1302992 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a290a8f6-d7c8-42f1-9ced-685e5ea73923 CLINVAR:877000 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a4a6ce4d-d167-4ec0-910d-a4066c45bb31 CLINVAR:877000 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5408ee54-aabf-42d4-95c8-acdc7bd49d86 CLINVAR:2500834 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fa21d554-3f77-4226-9640-3932e6f39025 CLINVAR:2500834 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1fa268f7-baee-48b8-8b65-5918c0d8fc70 CLINVAR:431972 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 54bbaeae-bed1-4587-aa08-ba9b7a3a10fe CLINVAR:431972 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6bb311cb-935a-425c-b2cb-4d0195c1a20c CLINVAR:242139 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5c394fce-f95c-4ca2-afb5-3d3f9443580a CLINVAR:242139 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8f2991b8-80cf-4cda-9591-a73ca548f948 CLINVAR:479634 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen edd7e8b8-2130-49c9-baf7-fb7765c95729 CLINVAR:479634 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cfc823be-940e-4b87-ab09-28d3c5f5c1f2 CLINVAR:825798 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 01b050ba-1784-41f8-984e-6fce54d55f3a CLINVAR:825798 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 55743bf7-a1b1-456c-af7c-62cadfddcc83 CLINVAR:825790 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3aae74c8-6ff1-4fdc-84d4-4f57fc36bed4 CLINVAR:825790 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2b923787-6d34-41de-96e5-a0a642be2f96 CLINVAR:825823 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a442b5d5-d737-4124-8d59-e89e30867b84 CLINVAR:825823 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aeb9f5fc-c296-4778-91f4-1ed8aeca91b4 CLINVAR:479625 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 661ceb6f-d687-483b-a704-8fe5d7269582 CLINVAR:479625 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1649aa0e-887a-4f91-8cf6-ed7dc6d99b02 CLINVAR:2506404 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1ed0d48b-98c6-4be8-8dc3-a27b92d1ad2d CLINVAR:2506404 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 31cbaafa-1eea-422d-b72a-bcecd9bc4fcf CLINVAR:2506405 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b5b37f6b-8ca9-4887-912a-8a877ae10add CLINVAR:2506405 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 879faeee-63c9-49f6-aa75-e0c8d6b13a61 CAID:CA399795582 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 80486bf6-f884-4a6a-a732-4243ddc08fe0 CAID:CA399795582 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 776face7-ca2b-4858-9e81-751a19092cdd CLINVAR:2506407 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3af803ea-29cd-4efa-b7b0-4af0247ed820 CLINVAR:2506407 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fa4af81c-c47b-4f14-88b7-93f3deb66975 CAID:CA915940265 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d7a74cd0-5802-4b89-8d20-249edbd9b88b CAID:CA915940265 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a8bdf81e-2788-47c1-9e50-7c57fdb67a44 CLINVAR:2506409 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2db48d6c-8f2c-44d7-8caa-74d69f31fa77 CLINVAR:2506409 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a775c166-89b7-4235-a0b0-b2b51ef5a0de CLINVAR:2506410 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen daf6f508-ecc1-4fa3-873e-52b9bbc71074 CLINVAR:2506410 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 92cff760-2714-4129-a988-5a3e0a1cabd7 CLINVAR:2506411 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0bedb83e-a6f8-47f1-9555-fc5373016141 CLINVAR:2506411 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 86c42d7f-ad6d-461a-a8b8-5070e6074fad CLINVAR:2506412 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 70bf125f-dc65-4740-b7ca-eead1bcdb090 CLINVAR:2506412 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5bce96f8-3171-4628-8fc5-84eae7c4893b CLINVAR:9590 biolink:causes MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 53be9eff-2406-45d7-849d-537d924a00bc CLINVAR:9590 biolink:is_sequence_variant_of HGNC:7461 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 230a6491-a554-4bb2-909d-b8b95d6da775 CLINVAR:30004 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 24648399-3e93-4eab-932a-b684db448f34 CLINVAR:30004 biolink:is_sequence_variant_of HGNC:7487 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cc4aaec9-acac-4010-9cd4-c3baefeb677c CLINVAR:9569 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e22dcf9f-9083-4856-97a1-ce2d7c4bcc43 CLINVAR:9569 biolink:is_sequence_variant_of HGNC:7497 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 50448c52-f960-448b-b491-b2edd6b1e42e CLINVAR:693062 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3274677b-2b02-4ea2-98e4-307dcdcbc9f0 CLINVAR:693062 biolink:is_sequence_variant_of HGNC:7414 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7cf1cc3b-c23a-4519-a085-960148dc6d24 CLINVAR:9722 biolink:causes MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen bafdaf47-717c-4f39-ad50-1ee928eb7426 CLINVAR:9722 biolink:is_sequence_variant_of HGNC:7455 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 91065d1e-e6f8-4634-a60e-464d14c470d5 CLINVAR:133144 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen cf437bc2-3e87-4786-848d-737a0968f6d3 CLINVAR:133144 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 261e99e8-41ca-44d2-92bc-c5b989b390d8 CLINVAR:932844 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0f2a70e2-39ac-45b0-ab6d-2cea52ad2048 CLINVAR:932844 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d235fccf-1bc0-4d18-8508-8b338ae94c16 CLINVAR:810628 biolink:causes MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7379917c-ce3b-48ec-91c9-43789c349b80 CLINVAR:810628 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3bd060d6-7e61-42a7-93db-f8e4dd36f061 CLINVAR:1312506 biolink:causes MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1a02ca43-abf5-4a84-beff-311954c42b8f CLINVAR:1312506 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ebbde1fa-ed9a-471f-9462-41af97e95bad CLINVAR:8304 biolink:associated_with_increased_likelihood_of MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4cebefc5-f2a1-48e5-8082-3e2d532aa5d5 CLINVAR:8304 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 78a8fd91-4e1f-4555-a2e1-6bbdd33ea1c4 CLINVAR:1067935 biolink:associated_with_increased_likelihood_of MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a0826c32-ecb4-41c6-8b07-bd5f3254b43b CLINVAR:1067935 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2535607a-7728-4f7a-bc00-cfe46b520194 CLINVAR:2570636 biolink:associated_with_increased_likelihood_of MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2699d34e-701a-4f27-8970-0c73643b5019 CLINVAR:2570636 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b04fa245-949f-4307-aaf8-d8b4ed1854fb CLINVAR:939221 biolink:associated_with_increased_likelihood_of MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 38275519-d533-4d65-af2d-baa8a83c7013 CLINVAR:939221 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 97985d76-9747-4555-9e8a-c414277596eb CAID:CA504731701 biolink:causes MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c17ce8f3-6a55-483f-99b5-6f026537b27b CAID:CA504731701 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6eab8bbb-859f-4cdc-ba6d-8c87043ca11d CLINVAR:2570638 biolink:causes MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 51ea638a-a998-4f09-b299-34b1483c8b4b CLINVAR:2570638 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 759b61c9-8b1a-41f8-a831-3d6952b782ed CLINVAR:2570639 biolink:associated_with_increased_likelihood_of MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a6cac513-defc-4afc-8c39-647384058f14 CLINVAR:2570639 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9112aa31-0ed6-4f03-b153-9c21e0539b83 CLINVAR:2570640 biolink:associated_with_increased_likelihood_of MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a8662bfb-cabc-41b4-be29-65c6e6e28e12 CLINVAR:2570640 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6fb3d30c-b67a-42cc-b3b2-78c59813ecc3 CLINVAR:8303 biolink:causes MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4fb8675b-96b8-429b-9d9e-f7f19e45d4b2 CLINVAR:8303 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 691f89f1-e318-4cda-a48b-eb27aa26cba0 CLINVAR:947458 biolink:causes MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3c60a104-a17f-492e-8abd-ff905648c402 CLINVAR:947458 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 56dfe337-37c1-4e2c-8fe2-267cd3c5ad46 CLINVAR:449690 biolink:genetically_associated_with MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b5e02d9a-adfb-43c4-a4eb-d5dc8f7815c3 CLINVAR:449690 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3f74182a-bd60-422f-9173-c6fac71d8dac CLINVAR:1361089 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 446bab4d-6ce1-414d-9224-2af0534265d5 CLINVAR:1361089 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d5bee87f-c5e7-4cd5-b5ae-ba333206e793 CLINVAR:2136533 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0c84ff62-78f1-4970-9d67-7cac7b93fe9a CLINVAR:2136533 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2c28feda-33a2-461c-94f2-6fa8dfa501a0 CAID:CA2018007653 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5f2131b0-2b0e-45c8-8693-40798de06c23 CAID:CA2018007653 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cf563eee-0c0b-4cf2-8e83-f663a9a5fe60 CAID:CA367401305 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ce7a4cf3-f815-410e-b0ca-76451da74ffd CAID:CA367401305 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 80e655a0-42d5-403e-8a85-27cb27853df5 CLINVAR:36224 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9af2b007-7a60-4774-817f-ec5038f54c9c CLINVAR:36224 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fa12cd93-d626-41c5-a5bf-fa416c13e5bf CAID:CA367402542 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a31f72d3-8fda-4638-b040-57d209ef4e7e CAID:CA367402542 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5f9dad23-0075-4bc9-849c-6f9258d3ad56 CAID:CA2573102977 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0f9f6330-28f1-4084-b484-cdcccfb88be8 CAID:CA2573102977 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4d18f711-35ec-4337-bdf6-a77a6966d310 CLINVAR:2503894 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4454ab36-6034-4abc-9fbf-4c6825a16f50 CLINVAR:2503894 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3037409e-47fe-4588-81b3-80e9443adf0b CLINVAR:1299751 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2e230037-7ba5-4133-8e68-45575f0d9713 CLINVAR:1299751 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bed84f45-aae6-4cb4-876b-5756665d11d4 CLINVAR:1299750 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5546be46-2745-49c8-a69f-1d07e3f9f6bf CLINVAR:1299750 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fcfc32f2-eda9-4fba-8c38-dd409bf4815f CAID:CA409103994 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen cf6d4ea0-c46f-490e-a0c6-f9114ccc819a CAID:CA409103994 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen db77ea31-f991-4be2-8ff9-6f9428f3446e CLINVAR:393110 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen bb035593-0fa6-4e65-adc5-70d7cf5911f2 CLINVAR:393110 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a6e81790-c4c7-42a6-894b-96da441508f0 CLINVAR:447515 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 56b3e11b-62b2-45cd-895c-360bb178ba5b CLINVAR:447515 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c40d67f1-6274-4a17-ba92-ba8152754ca0 CLINVAR:36348 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f458028d-9d44-4170-8012-3889ec48dd68 CLINVAR:36348 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9969fa69-cb13-406c-9065-09eac13ceea2 CAID:CA409104377 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 330c7d84-6018-44a5-b3ba-51bb910b7749 CAID:CA409104377 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fab100a7-d3de-4f31-b452-0d0e8398be22 CAID:CA409105868 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 85eba6ba-2685-4bc9-819a-f304bd22e39c CAID:CA409105868 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eedac3d0-b422-4efd-bcc8-e19a248cb820 CLINVAR:9215 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a1a61ccc-009a-4d7b-8ddb-65fa71f9c01d CLINVAR:9215 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5a6244df-2fa5-4e0a-8d3f-42ea6c8d383c CLINVAR:36356 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 01f366b2-74db-4892-ac12-11642052c585 CLINVAR:36356 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 287be64b-045b-4637-a6b0-6b7a23d00655 CLINVAR:1700660 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 326b094e-c1bd-47b3-80fd-d379b105bd7e CLINVAR:1700660 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 405d02ed-d718-4f2b-b1b1-2cecdf936345 CLINVAR:586021 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ff59d0de-a4cc-46e7-9c77-1379f046b9c1 CLINVAR:586021 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 84674ed3-6c3e-4eae-949f-2aa14682560a CLINVAR:972810 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9f8dd7db-649b-47ae-a4cb-27505ce5dc4e CLINVAR:972810 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 60bebaf4-4822-4b49-be4d-ff335de139ef CLINVAR:36344 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e384c307-0fb2-4630-9a5e-773de8841a47 CLINVAR:36344 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0ca6d210-e490-449c-996e-1b136b6e80be CAID:CA409110466 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 081715cf-6e7d-4418-980d-c34e27f10b24 CAID:CA409110466 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7895cc11-ceba-4b6c-90ab-5110d70c3178 CLINVAR:875084 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 07637609-74e9-475f-8cfc-37d5d26fefa0 CLINVAR:875084 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9d046bf8-cfcf-47cb-b23e-534c5fa7b239 CLINVAR:2505289 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a9073ac2-5abb-429c-9ab3-dbf7af7ebdd4 CLINVAR:2505289 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 164d0d4c-8b7b-445a-9e5b-8074e997ce24 CLINVAR:293710 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6bd02d96-7c06-4b3a-9ddb-60d280e2199c CLINVAR:293710 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f059bece-95a6-4357-9f83-0cb77d5c29a3 CLINVAR:2505287 biolink:associated_with_increased_likelihood_of MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0f01c625-ecc5-4ad3-8664-70e9f66b3059 CLINVAR:2505287 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a1058141-24f3-4925-b49d-f8e02da11c02 CLINVAR:2505286 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f255383e-5afa-4192-b6ec-8504b0c74328 CLINVAR:2505286 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c1a667ca-1a19-43fc-ae2e-6bb88d96c4d4 CLINVAR:2505295 biolink:associated_with_increased_likelihood_of MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 057d3fa5-5d1a-4f7e-8d41-f112cae7aba6 CLINVAR:2505295 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f0fd1cb5-d9e5-4211-ba8c-6490e6726752 CLINVAR:2505294 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6c2e31b3-b45a-4f37-9c64-b0919f72b0f2 CLINVAR:2505294 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0eb43296-7efa-4866-9019-a1152307674d CLINVAR:2505293 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 03c951b0-f43a-4b63-8011-4f769e220572 CLINVAR:2505293 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 62d7da70-2520-4f11-8753-9b1b921b71de CLINVAR:2505292 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b7d1d37c-9673-4141-a4f6-fb23a1255c88 CLINVAR:2505292 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0ccfdbd6-34d7-4eb4-9887-4872c37dd740 CLINVAR:2505290 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ce9301a7-ccc8-418f-8b52-ed79356c63ec CLINVAR:2505290 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eacea10e-0887-404c-ba9c-b8660db9b679 CLINVAR:877041 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3ab0e41c-8742-457a-a434-6f1674bb4fcd CLINVAR:877041 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f86ca113-ea7c-4c33-9589-b10407c04b2b CLINVAR:1324771 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1879268b-d970-4793-b52a-6b06c8f5d49f CLINVAR:1324771 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 983d13fb-858b-4d21-af65-1e6b02a44913 CLINVAR:701285 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ab74884a-6651-4305-990b-324769e8500b CLINVAR:701285 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 732765f5-c080-43ac-b5c6-98ce7d62711b CLINVAR:627234 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6b3fe83c-a7a3-4e0e-aba4-e945ea0bbbbf CLINVAR:627234 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dc2621e4-8e14-4ba5-9613-3e793b0c57fc CLINVAR:2506413 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3e0af628-9c50-42ba-82f3-ef43b96c6ee9 CLINVAR:2506413 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen db5ad2f5-be4d-4ea8-b52f-414b8313e892 CAID:CA400034479 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 84ec09e9-87fb-43e5-99cb-c02c01433aa6 CAID:CA400034479 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a60800ad-e03e-47ad-a5eb-69a33ebc836b CAID:CA399806084 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 777f2f73-adac-4c53-a5e2-78d61b18789d CAID:CA399806084 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 200dc4d6-d683-46d3-a985-218cd84383ba CLINVAR:2181112 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 249d9cc7-3fad-4d42-a039-1007b53e8c4a CLINVAR:2181112 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen da6b9f0c-8508-4866-8d51-d0bc272a589c CAID:CA915940780 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 938df64c-a1de-4184-b196-a2ead18ab414 CAID:CA915940780 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 59d06416-e8ea-43e6-a702-08d79f148407 CAID:CA399802364 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ad323327-de9f-4810-8107-715a3efb6247 CAID:CA399802364 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b22ed2b5-e881-46ab-9835-c55eecd6786d CLINVAR:892302 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 641665f3-f367-47e9-8ca2-046e612d0b7c CLINVAR:892302 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 667ac760-3e54-4647-adb5-509d9f37c02b CLINVAR:983532 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9177d3d0-5363-4d90-ba08-53d6c8346893 CLINVAR:983532 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dfffe377-167c-4112-84df-38aa053e35ac CLINVAR:573140 biolink:causes MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 49ed3708-4a1d-4de4-a818-efaf3c4bdddf CLINVAR:573140 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0f916c5f-cdb6-4e57-9e65-2ca20d4ab7d5 CLINVAR:932829 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5c525228-62ca-40be-821b-eb96954d7f38 CLINVAR:932829 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0e00e831-d611-420f-acee-3e8a87731ab6 CLINVAR:189008 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5323844b-6ecd-43e4-942d-c4b4efd78e61 CLINVAR:189008 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7bb2be98-a41e-4845-b2f4-f6e0cf65c565 CLINVAR:2058739 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0d2a089a-b0fe-42e0-9d63-84f56301c2f4 CLINVAR:2058739 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9ec1eb69-82ea-4e6f-8474-0c2392430749 CLINVAR:1623 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b8054a8c-cf17-49a7-bebc-3b3e615aa446 CLINVAR:1623 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 62f6c682-1587-40f9-be72-62101117fef7 CLINVAR:406374 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6a140f82-b697-4aeb-9328-de690a1c2c3d CLINVAR:406374 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e34c365c-7f6d-47c5-b624-a76da3d3fac3 CLINVAR:42420 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2400fc68-6562-4c0e-bb4a-328474ebd9b1 CLINVAR:42420 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 22432067-c83f-49a6-be9a-461bf9c98303 CLINVAR:426140 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 26075899-2963-4ff4-a290-c71c2e71dcc3 CLINVAR:426140 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 50719422-0cbf-46af-a926-c3a805203627 CAID:CA916084365 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b497093e-36e6-4467-a025-49d97ecd9fd5 CAID:CA916084365 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 62418a16-4a3e-42bf-8d21-34194e71a70c CAID:CA392325892 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e6e5c092-fadb-4688-ad81-7c8b47da8876 CAID:CA392325892 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ed743fce-a03e-431d-ab1d-51f2825d7189 CLINVAR:200198 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8d2b162c-2226-4670-bedc-145ee86e4fb7 CLINVAR:200198 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2d80d7d6-4813-4f2c-a73c-ba6c91487067 CLINVAR:431935 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c78d1a5c-3086-431f-a5f6-499a0b6a780d CLINVAR:431935 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6b74d9b2-e643-4b87-aaa2-fe8904aa7904 CLINVAR:406332 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 32db86ea-58b9-4373-8034-5ce3a1a413ad CLINVAR:406332 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 52bd74bb-26d5-4454-9353-bd03fad4bb05 CLINVAR:373598 biolink:genetically_associated_with MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 89a4c672-d1bd-4d03-b86c-8ac31756d80f CLINVAR:373598 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8a5732ee-b8d4-40b0-ba75-6864eb8de665 CLINVAR:189623 biolink:genetically_associated_with MONDO:0100040 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3c6b9142-8eb0-4deb-9eef-9a1745fdfef1 CLINVAR:189623 biolink:is_sequence_variant_of HGNC:3811 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 883293bc-173c-4678-bf7d-4bef5f5c82e4 CLINVAR:217360 biolink:associated_with_increased_likelihood_of MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen bd057269-f3cb-4c04-a38c-7b5be10648d0 CLINVAR:217360 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 598b485d-98b3-4cd2-9ac6-c78fcd343e27 CLINVAR:286706 biolink:associated_with_increased_likelihood_of MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 98164a10-c0a4-4978-b3e3-19c322eab666 CLINVAR:286706 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5531c727-5e7d-48b2-924b-e00b962e61ae CLINVAR:452682 biolink:associated_with_increased_likelihood_of MONDO:0100040 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 81f40a15-1287-4123-995c-cd318fcbda7f CLINVAR:452682 biolink:is_sequence_variant_of HGNC:3811 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1b72689d-e70d-4ebf-a6af-023f4a1c2caf CLINVAR:547390 biolink:associated_with_increased_likelihood_of MONDO:0100040 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a36aef0b-5d29-4b5b-8501-97d5b17cdf03 CLINVAR:547390 biolink:is_sequence_variant_of HGNC:3811 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1c1a585a-4feb-4bb4-993c-4d0da1555ad7 CLINVAR:658951 biolink:associated_with_increased_likelihood_of MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 56259057-51f3-4ec3-8acd-499d04b984ef CLINVAR:658951 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 83c088ca-484d-40dd-a1ae-0d199d53a14d CLINVAR:803714 biolink:associated_with_increased_likelihood_of MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 10087999-84e1-4ab5-ae9a-56caa47c405c CLINVAR:803714 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ed37cde0-0949-4677-acd4-e03d00c64b7b CLINVAR:870171 biolink:associated_with_increased_likelihood_of MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b1b716b8-da80-4c62-8f94-274c6231568a CLINVAR:870171 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 60fe1565-0f2a-4dd0-9874-4ba571fd6922 CLINVAR:985267 biolink:associated_with_increased_likelihood_of MONDO:0100040 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b52a4def-71bd-425a-bbd0-5c772e8d3e7e CLINVAR:985267 biolink:is_sequence_variant_of HGNC:3811 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9801b3c9-96d8-4d04-9730-b32b2b8e286c CAID:CA2573102976 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ee85cfdb-1354-4a74-a73b-c8f20ecbd187 CAID:CA2573102976 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 56582b4c-33b6-4e10-bae1-fd9c3179b693 CAID:CA2497028747 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 781f5330-702b-47aa-a2d2-36e32218dac2 CAID:CA2497028747 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f90da057-f09e-4c06-8d2b-c794f56c6d7a CAID:CA2573102978 biolink:causes MONDO:0007453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b93f9f69-60d4-4a34-b058-db87f756aa94 CAID:CA2573102978 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6a9dc54c-60dd-4c6a-a511-01a6e645851c CAID:CA2017997780 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d3966eb2-6239-4e26-ba99-68398b3d6a31 CAID:CA2017997780 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 864076e6-c5b3-44fe-be05-bcb4e634e3f7 CAID:CA2017997779 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen daff48ac-1564-418c-9ba6-0a2576f06793 CAID:CA2017997779 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 52b0b9a9-5ab3-4153-8448-ec73f0bb4f66 CAID:CA2496602227 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3e871853-7423-407f-9c0c-d686d70e0b82 CAID:CA2496602227 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c13482b6-3af2-4e55-b70f-9e972eccd446 CLINVAR:1708917 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d6c8f354-df28-41b6-bb36-e1e5d9aee576 CLINVAR:1708917 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0b91f541-29dd-4c6d-a08d-03e12a34179b CLINVAR:36197 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 21522d28-eed3-4d0e-943d-cf03a183419b CLINVAR:36197 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 618238f5-9536-4f8e-9507-46bf84ee4164 CAID:CA367397060 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3b57b33a-3a24-4617-a51d-82c23299f8c9 CAID:CA367397060 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2c428ace-fa42-4c66-8ed4-8163a47f3c5f CAID:CA2017997767 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen aac1bde0-0798-4520-ab1c-c5c5375f6e77 CAID:CA2017997767 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aaca145f-cd81-499c-9223-8474b8cef76a CAID:CA2573106064 biolink:associated_with_increased_likelihood_of MONDO:0007453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0ee981e3-9f86-4cd9-a292-e6606602886e CAID:CA2573106064 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 220bc711-9561-41c2-a74d-56b94cd67012 CLINVAR:36191 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9f88c435-ae38-47e2-9c49-a998d3aa683b CLINVAR:36191 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 12ee664c-1096-4c4f-81e8-cb6f7c54a011 CLINVAR:1301411 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b57e5fcf-4669-489f-803e-e816ad732a98 CLINVAR:1301411 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 56f91f6f-a4b9-48e9-9c3c-8e70100376b4 CAID:CA1139771342 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 380b54d5-eeb5-468e-abf2-daf2f64351f5 CAID:CA1139771342 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2a65b3fe-92a5-4c4d-b489-eaefc1ab9692 CLINVAR:817706 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 929c0057-729c-41e7-976f-32573937fd7f CLINVAR:817706 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b905a2fa-d302-4037-a79b-bb9f1f78e797 CLINVAR:597013 biolink:genetically_associated_with MONDO:0007113 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5a6208ce-481c-47e6-b1cf-70835e0233a9 CLINVAR:597013 biolink:is_sequence_variant_of HGNC:12496 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 25340f5e-a732-4c26-bf02-9255dd6aa1c2 CLINVAR:654347 biolink:genetically_associated_with MONDO:0007113 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a618b2f4-edd7-4d2f-84b1-40184754ea1a CLINVAR:654347 biolink:is_sequence_variant_of HGNC:12496 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e3f5659c-2713-4da7-83c0-e528fc5948ac CLINVAR:850340 biolink:genetically_associated_with MONDO:0007113 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a86970ea-72f4-4f1e-8149-ecec12303814 CLINVAR:850340 biolink:is_sequence_variant_of HGNC:12496 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 26002b34-131e-405e-a234-51d0cef4b17d CLINVAR:418562 biolink:genetically_associated_with MONDO:0007113 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a5f50ad2-e29f-4c81-9061-63bdc2c29fd2 CLINVAR:418562 biolink:is_sequence_variant_of HGNC:12496 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 921b66c2-8911-4068-800f-e8776f036b79 CLINVAR:211455 biolink:genetically_associated_with MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7b5a92fe-bebd-459c-96b7-d102a4439484 CLINVAR:211455 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 80490f4f-fbc1-4e05-916c-33bbb52ab15f CLINVAR:804844 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4f3a4847-3746-4bff-806b-f4962b92eb22 CLINVAR:804844 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6f84bc9d-2754-4073-bc99-9961f07046b3 CAID:CA2017997776 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen efebdc3d-9157-45aa-a963-f0b8aa675853 CAID:CA2017997776 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9f50e71c-ab78-4160-858e-bbd386d68f42 CLINVAR:393448 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8121ac53-5087-462c-a0ad-1df9f6dddd0a CLINVAR:393448 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 527183b4-ab74-4777-bb83-430a1d0cd1bf CAID:CA2017997775 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e2e4778d-4883-4597-bb98-69b3fe74cd49 CAID:CA2017997775 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a7f97c72-53f4-4af7-8519-81566691805c CAID:CA2017997774 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6a3a723b-6e0a-4b3b-b67d-37c1b1401d61 CAID:CA2017997774 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b17df14e-d74a-4c5e-a54d-272ecda8a603 CLINVAR:421604 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen def53f66-67c0-4108-917b-64f8bd1a03e5 CLINVAR:421604 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 53167edc-73be-4e0b-81dc-01ff9dc9e385 CAID:CA2017997773 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d9b44cfc-e0d5-49c7-a2c2-1a194f2dceb3 CAID:CA2017997773 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 79b65c5b-284f-4bca-8f9d-ecd1b3f8f1f4 CLINVAR:1320655 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2281a523-be61-4e2b-9634-7cc7ea542cd4 CLINVAR:1320655 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d31b6cd1-8ee5-4e9d-b405-9e1bec32e232 CLINVAR:435298 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 74097023-0447-4d4f-a8fd-7edf889b21f9 CLINVAR:435298 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2a65d362-8f8b-47d9-82cc-9b945b34c01a CAID:CA2573106102 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b2280e38-5d6f-4708-828d-845f6e933a53 CAID:CA2573106102 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8cec44b1-3b9c-4200-a4e8-090a321d00e5 CAID:CA367397036 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 463437dc-5796-4f7e-aa3b-b188717765ad CAID:CA367397036 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e3649363-2364-474c-bfb0-d0a1d3cc993b CAID:CA2573106063 biolink:causes MONDO:0007453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1efbdfc2-7225-4722-b468-4c8a7ba1f9e9 CAID:CA2573106063 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fcad07eb-ac22-4a2a-b7ce-5cead98a2d34 CAID:CA367397114 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 87d157ae-acaf-41e1-89f8-dc72fa599f63 CAID:CA367397114 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6a28ffdc-f48c-4f96-8290-55c405696ba6 CAID:CA367397285 biolink:causes MONDO:0007453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2080f631-2320-4483-92d1-c54d6059a0d3 CAID:CA367397285 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 55948388-65fc-4d85-8c7c-58939c990265 CAID:CA2018007672 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 75d1cd0b-351e-49bd-a922-b6848463aebf CAID:CA2018007672 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2834c85f-51a2-4cf0-bdbb-bc96a401dab2 CAID:CA367397309 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7ccf85a2-7842-411f-8827-28e4290bcd2f CAID:CA367397309 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 096ab6e5-fd7f-4488-884a-424eef095ae5 CAID:CA1139771322 biolink:causes MONDO:0007453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 49f3a9c4-7316-43e0-9294-d405ca31461a CAID:CA1139771322 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c1a264c8-a854-4abe-aaa0-3251eaff6b2c CAID:CA367397313 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 826d02ea-d6e2-473a-834b-40a81b89b255 CAID:CA367397313 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9cc444c4-739d-41b6-91b2-533c1e2b2733 CLINVAR:252467 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d9f55258-7273-4037-bf71-fb8b62f0c328 CLINVAR:252467 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b7b42fe3-1f17-46ef-9529-297ce20abf4d CAID:CA367397324 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen fc7da29a-3e2c-4ff4-9ce9-4232b2101ccb CAID:CA367397324 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5f039f6f-1d55-4aad-b8c0-0e2a9739e7ed CLINVAR:36188 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 05d574a2-b823-40b4-835b-10d80485bb89 CLINVAR:36188 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ea141aa4-1767-4e03-8f22-17a61f924562 CLINVAR:811525 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5b46e5b4-7054-4851-b183-be46fe1dd575 CLINVAR:811525 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 583c5983-3c24-44d8-83fc-06da698fb268 CLINVAR:371635 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2bbcf2ad-2ed9-44ae-a323-2e5d1edc4d50 CLINVAR:371635 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9a9ceae8-a46d-44db-bd35-38e1d56c486b CLINVAR:932836 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7c246842-3a19-4f0d-8b05-c65c8fa6813a CLINVAR:932836 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d147ba84-4fc6-4f2b-a8ca-3166c55393d3 CLINVAR:811520 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 146286d1-8f33-4646-b01a-a4042369716a CLINVAR:811520 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a7243c84-57e3-4dca-9fb1-eb35470f3893 CAID:CA1139532272 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8a90f8b7-2952-4a37-b9cd-0cb8c1540732 CAID:CA1139532272 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2c8a7f94-c17a-4592-93df-e8eb0a19f252 CLINVAR:965068 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 865f518f-0e5e-4b76-9501-9cacc0e6d90a CLINVAR:965068 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8c249b6a-954f-405f-af7a-521aa611fa19 CLINVAR:291163 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen af6ba203-6acb-42d6-84ee-e47b8906b366 CLINVAR:291163 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b7ec51b2-70c6-4545-92bd-c060b085f1f2 CLINVAR:370981 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 80e54cf4-6c86-4def-98d2-06995bf0958d CLINVAR:370981 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d06a108c-163c-4076-8c23-6bdd45036cae CLINVAR:932832 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e456c860-38dd-4120-b994-deb4bf0c3401 CLINVAR:932832 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 47add6d9-bcd0-4106-9fbf-e7df263aa86e CLINVAR:932831 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2f9d77b0-3a86-48df-8e61-3764eb7004c2 CLINVAR:932831 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ada66e4f-12a3-45b8-870f-a7cc072964c9 CLINVAR:656452 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e0bdae4b-66a6-455e-a9d6-f428ea8bd4e3 CLINVAR:656452 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9f23999c-1c28-4536-9318-dd0c162f92e6 CLINVAR:932839 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d61c4494-34d9-4380-91ea-f4609883604b CLINVAR:932839 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen be6fa2b2-a28e-4481-84a2-cd8f21ebf038 CLINVAR:178503 biolink:associated_with_increased_likelihood_of MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen af04ed6f-1c75-40f7-a812-8693eb151f61 CLINVAR:178503 biolink:is_sequence_variant_of HGNC:8515 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 41cc4714-0cf5-4f00-9614-be708ca2ea4c CLINVAR:446446 biolink:causes MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 34f9e2ed-d664-4bc7-a119-0adfd3c8b6a8 CLINVAR:446446 biolink:is_sequence_variant_of HGNC:13733 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 144284e3-635d-41ec-9046-a21e94aad29b CLINVAR:265402 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b8f722ad-d7e7-4a50-a192-5f335457e1ba CLINVAR:265402 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f0673378-ab26-4eb2-b6dd-bf3f86276515 CLINVAR:2570628 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b6d60a1e-b7e3-4462-b1f7-ab4fcdfa1711 CLINVAR:2570628 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4eadf8d7-c1a7-424d-b2b9-25227941133d CLINVAR:1698736 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d57a08b8-2bce-42ab-84d5-3421a34c4e0e CLINVAR:1698736 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a16ff57d-e262-44b9-a773-882af90d8f21 CLINVAR:2570630 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0a2a1a7f-fbc7-4406-b57d-697d7616e2ea CLINVAR:2570630 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2264e3c6-d2c4-4283-84d3-8c8fb644460f CLINVAR:2570631 biolink:associated_with_increased_likelihood_of MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen aaf8dce4-fc0f-49d6-b536-61c196298ecd CLINVAR:2570631 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f894ee6b-252e-4b23-a6f8-41237f0270cb CLINVAR:2570632 biolink:associated_with_increased_likelihood_of MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 42ce6d06-ff88-426a-84d0-15e09731d88c CLINVAR:2570632 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 486a231c-7fb8-4e47-8344-a8e2f1215042 CLINVAR:2570633 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 159e56b4-5f73-4a18-8266-976690e5b18c CLINVAR:2570633 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 73a714c9-50db-437b-a23c-3566145ab96d CLINVAR:2570620 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3b018782-934a-46f3-8f05-713d3b87143d CLINVAR:2570620 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 49e50376-b00b-4618-8305-6fab02150f38 CLINVAR:2570621 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a861be3a-0eb6-4698-9f0a-aac5540e82ff CLINVAR:2570621 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a520ecdd-6d39-413b-b1f6-d84cde6f542d CLINVAR:2570622 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a8d4bc5c-6800-44c0-9caf-77fb0f20496d CLINVAR:2570622 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d6bc1716-ad19-43ed-b6d2-ff9851646165 CLINVAR:2570623 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ddbcbc4f-ccaa-4cc2-94ec-c70172cca295 CLINVAR:2570623 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e37be740-b83a-4fda-9f9c-f98eb6fe213c CLINVAR:625855 biolink:associated_with_increased_likelihood_of MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b932e214-2689-4404-912d-50ed952c4e6e CLINVAR:625855 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d2170cbe-e5ad-4417-8ca7-dd56738e8c63 CLINVAR:2570624 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d59f8f3d-605d-420f-a476-acc9d10e8e5d CLINVAR:2570624 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 13f76a22-9781-47f4-9624-324682019e98 CLINVAR:2570625 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 378d43ff-cca5-4fc4-a3a5-7e6c537a3b18 CLINVAR:2570625 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7b5e1dce-a5c5-4953-b305-ae42a61bea2e CLINVAR:2570626 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a5ec1406-3e06-4302-9a01-0443d0701cf0 CLINVAR:2570626 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9bea6db1-adc4-450d-bcf3-a3b72dde5400 CLINVAR:2570627 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f98484f1-01b0-45cb-adab-ee3d852f8027 CLINVAR:2570627 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 77c76e51-36de-4fa6-9cb8-f195bee78872 CLINVAR:21077 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 31985995-8db0-445f-b2c5-eb145c925763 CLINVAR:21077 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 32287230-b25a-432e-a326-9380f7b2213f CLINVAR:2169517 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 559a2884-69f3-4745-a85e-d5a7ef4f6a80 CLINVAR:2169517 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cab492de-9604-48c7-beda-cb40f1484e49 CLINVAR:1522625 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 93cb46f4-9d51-40e7-a1b4-b3450644544d CLINVAR:1522625 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 706791b1-fe0c-41a1-84fb-b3254189d65c CLINVAR:2574162 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 22f07b40-1869-4cf8-846c-719df8774446 CLINVAR:2574162 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e52fa647-d0c6-40e5-aee2-9b168ec7ab21 CLINVAR:585909 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen bfbd3dba-486a-4b61-9285-c72d4acbe86a CLINVAR:585909 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2abbc16e-68ec-4d92-bea0-6d07192bf7cc CLINVAR:1256304 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 867b6ceb-f587-4364-90fa-0c00b634d867 CLINVAR:1256304 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 22eee177-7b1c-403e-9fbc-c9cd6ef88c49 CLINVAR:447384 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 38d8b6b1-a1d8-4102-9401-aaad890421e5 CLINVAR:447384 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6407dc8b-fc61-48eb-abb8-ed9f5b4aab23 CLINVAR:36178 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6cd2c27b-bd3f-4a72-9361-fde84b1e8457 CLINVAR:36178 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 40c303bf-d0c3-44b0-ade3-f5de216ebb3e CAID:CA367398764 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9d42b391-f64e-4f29-9385-ec2ffd92b4f1 CAID:CA367398764 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2f49f113-dab2-4ca5-900c-1bff56e89ad0 CLINVAR:36177 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 98fbf728-e775-410b-aa4f-ba88415a855d CLINVAR:36177 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2eaeadae-f9c2-4a4e-b130-7c703a587a86 CLINVAR:447382 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a1ebe430-0e63-4a99-9591-ce83ed84838e CLINVAR:447382 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c206107b-297d-4ced-a0cb-5b4833ee8a42 CLINVAR:804832 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 83b64138-93aa-4c1e-9cc0-565810555efa CLINVAR:804832 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b44b90bc-dab2-4224-9988-24211d62a80a CLINVAR:280955 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7683e32d-53c9-4aa4-a297-924c12b585c8 CLINVAR:280955 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8bc87629-51d9-40f1-8092-024180aa2a40 CLINVAR:638014 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9c13a7f5-2d3e-41e5-b3c3-1a15c94fb6d7 CLINVAR:638014 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d06e10d4-83c4-43a8-879c-7d410b4b9dd8 CLINVAR:960182 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 918cbd3b-7921-4a80-96dd-5ec9b7678e23 CLINVAR:960182 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7a7a5169-70fe-4be8-93f3-fac95bb02447 CLINVAR:2573146 biolink:associated_with_increased_likelihood_of MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0572d70e-c178-4701-a101-16fd95f0a2b8 CLINVAR:2573146 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3754a807-90b6-4790-9e9f-004977039620 CLINVAR:1513387 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 555696d3-c31a-47e1-827a-cd486d0356c9 CLINVAR:1513387 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a55d8ad2-04f9-4eaa-9ca1-f35e92b2ff53 CLINVAR:483420 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a27920c2-4572-42d8-9506-69c4af6e1488 CLINVAR:483420 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f120cfd5-1b59-4dd6-9e0b-ef70df2c1363 CLINVAR:412149 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e09d131b-b952-4b99-a292-e6c931352c64 CLINVAR:412149 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f82ab447-e45e-4baa-a7cb-3d3f36cd4c37 CLINVAR:825706 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 69b3d600-ad43-4554-9c58-b076d462447f CLINVAR:825706 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5aa23147-babe-4078-be87-121392dc21cc CLINVAR:825692 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5007cfe0-7eea-4447-a133-29fc53dfc004 CLINVAR:825692 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f798a122-0938-44ef-acfa-7d8dba35bbfe CLINVAR:485537 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 71ff6b0c-10c8-4ae7-8f13-3b98d50c2dda CLINVAR:485537 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 50f4e1b0-e768-4621-be6b-cf7ccf474409 CLINVAR:825630 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen cd01a9b9-b2d0-4370-91e9-aac4c6842870 CLINVAR:825630 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ae5df815-c47c-4e2d-b3eb-f7ca72ffa4aa CLINVAR:483441 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7fa727a2-f0e4-4dd5-a4b2-4dfd8a5d3005 CLINVAR:483441 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3c5c0ddf-b212-4e8c-9939-a42721c9b176 CLINVAR:477252 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f17185f2-c2cd-49ea-8234-0398ee9f5279 CLINVAR:477252 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1f23277d-31a8-408d-9012-39cd0052b44a CLINVAR:804344 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 43acc76a-27f1-4f99-9471-f1af7e5b7052 CLINVAR:804344 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9b99a160-5f0f-493c-ace2-bd4d97241a61 CLINVAR:426122 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1aa8f6b3-6f84-43aa-b076-d67ad2493afb CLINVAR:426122 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f3a89c9d-72c7-42a7-a17f-a924589f6497 CLINVAR:553638 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b4a3fcea-47e2-40c4-aaae-026446cebea1 CLINVAR:553638 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9f505d15-c334-45d3-b8f8-25e6a0233b9b CLINVAR:102594 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b64d6a00-bf1a-49e1-92f9-fb1344611170 CLINVAR:102594 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7c3e877f-4140-483a-aadb-b433dcd458e3 CLINVAR:102765 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 149067ed-e680-44fd-a944-2dee8bfb97cc CLINVAR:102765 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen db8d479e-4666-4745-883f-bc19ccd39430 CLINVAR:102903 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 25e6c0c9-5ae6-4a6c-8da9-0220adccebb6 CLINVAR:102903 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b9955e94-a574-4210-a023-ed3e776d87b0 CLINVAR:102503 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8257e3e2-5e3b-49b0-8f94-8d83392fc631 CLINVAR:102503 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1ca73fb0-aaed-4ac8-b864-404fc50fae42 CLINVAR:552806 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f1f72626-51ae-43c7-98ef-913e9de240f5 CLINVAR:552806 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 13295d50-1641-4f00-ba3a-b90f8e83be81 CLINVAR:725756 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 472ba433-8eae-434c-b971-e477818d778b CLINVAR:725756 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2b7a29de-96c9-4afa-9565-3f2a4b0146ca CLINVAR:733267 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 52ba20f4-5f7c-4d39-972f-821fccbd851d CLINVAR:733267 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4f7b1c5f-3032-4f67-9569-f1afa2dfef6f CLINVAR:755030 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 97bb41a8-3dc6-4a14-b6c8-06b050c06aa2 CLINVAR:755030 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dc1c6d27-22b0-4049-9808-ebb9b0249012 CLINVAR:760907 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d57313b4-0fb5-4cce-a660-ddcdd33e71a4 CLINVAR:760907 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b4824ddc-dc7c-4255-953d-a1d6ea17b2d3 CLINVAR:883189 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1cb6fadd-213e-4e9a-969b-bc1817704fbd CLINVAR:883189 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9dce5923-4682-446f-9ab4-8608fcccb26b CLINVAR:991620 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 94c4c668-a118-43b9-8ff5-cdae21a76a57 CLINVAR:991620 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1d29bead-1041-493d-80d3-f5ae17d2aa2a CLINVAR:991623 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6ddf2354-16bd-4a89-af6d-fb324f7d7aef CLINVAR:991623 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 010d6f53-4bda-44be-a9c6-fe15f180dd59 CLINVAR:991624 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6e5f0b9e-b441-4a0f-90d5-99cb44bd85d3 CLINVAR:991624 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0a57442f-7bb4-409f-a90b-9806aeb6c9c5 CLINVAR:991626 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen efefbd11-8b33-44dc-8536-c2454599afc0 CLINVAR:991626 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 81855790-623b-4708-938e-01e82c3817da CLINVAR:251525 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 699d5ce6-6fa6-4caa-b35c-f9c4f16fa179 CLINVAR:251525 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aea8e4cb-3cdb-418b-91cf-9f5fe090e991 CLINVAR:441199 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a9a39084-b4ef-4471-ac72-d8b534ad7bc7 CLINVAR:441199 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b84246b7-ed2c-449d-806b-5dc630dc58da CLINVAR:251526 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 769afa4a-351a-4a36-8729-b583d70defe2 CLINVAR:251526 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9a5a297d-f240-4678-b4c7-6183adb73cf9 CLINVAR:523725 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ca5dd007-f618-4221-9e52-ecf4f14348f1 CLINVAR:523725 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 36850675-8535-4827-804d-bcdc6d96668a CLINVAR:251527 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8521f292-df8d-4130-b17b-c9a43cb1df08 CLINVAR:251527 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 045d1fde-620c-417f-813f-aabb8f3bbfd3 CAID:CA367401753 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9e48e5b9-e4ba-4819-9c02-ad01b6f848b1 CAID:CA367401753 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5600ecac-7c17-41fb-b43f-8b134e487ed6 CAID:CA367401755 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 03d39f7a-19ae-45bf-ac68-dab249ad5d3a CAID:CA367401755 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a3da264e-d37b-4e64-8d5a-cdf229ebc329 CAID:CA2573102979 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1d0436df-6175-4b75-bcc3-29cd08be71c9 CAID:CA2573102979 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2e1c6029-1b9e-490f-a7c5-c66550901ee4 CAID:CA367396876 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen fd605f55-7042-4d55-ba9f-148818170d17 CAID:CA367396876 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 64b53600-0bd3-44b4-9c94-7887a839f2c0 CAID:CA367397326 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a5ea250d-29cf-450b-9132-38150b7d55ae CAID:CA367397326 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a7eb7a42-1ed7-4d74-ae99-ada113c6d97d CLINVAR:447412 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 56b4826e-c51b-4d2f-9b88-7dc62129ce92 CLINVAR:447412 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6032ca75-cd97-45a5-afde-71781761c574 CLINVAR:16141 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f611b3ee-f57a-48e6-a0e5-813618d10cd6 CLINVAR:16141 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3d06b9fe-b891-4412-9949-2b2d336ca5a7 CLINVAR:36236 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 88191b80-402f-407d-9c58-49e43c595fd2 CLINVAR:36236 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b3bf926b-aec4-4b20-aede-b97132ffe56b CLINVAR:129143 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 75a35b18-f9da-414e-844f-86d16474853a CLINVAR:129143 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d452b3ca-07bf-4a3b-a421-0a227d8f34d3 CAID:CA2017997770 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d7c78f60-7e04-49b9-b1e0-02f9f238dfb6 CAID:CA2017997770 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 094ce264-2596-4e57-b244-b6d73032aad1 CLINVAR:804835 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ecbc0981-190c-420d-9831-825bc38abedb CLINVAR:804835 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ade06750-df0d-4828-837e-5220045a28cb CLINVAR:1732973 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 92819e79-0e28-405a-af34-891aef8a28c3 CLINVAR:1732973 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f8535121-306a-4fe3-8a4a-9de1000e6f8c CLINVAR:2574164 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 303e7073-2e09-4117-9a6e-10971bec4eaf CLINVAR:2574164 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 988f260a-1cb1-4830-aee9-fa852ec5d155 CAID:CA386965806 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ddb5583c-3d49-440a-b980-0d278a9669c8 CAID:CA386965806 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 85004a05-dde9-4fc2-a9cf-38fa8f7bf20d CAID:CA386969831 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 18e6f242-0d15-4af0-bbda-1fb7b373ee76 CAID:CA386969831 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 483fa63f-033f-47f5-a51f-3c73f4dfdac6 CAID:CA386969829 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8253c3e2-3470-46e1-a851-40add29a21c6 CAID:CA386969829 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 63d47363-68ab-490b-baf1-bc8cd472daf0 CAID:CA386969822 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f4824f7b-3fa0-48d0-8384-087c908d6ae1 CAID:CA386969822 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen db620e1c-68be-4084-9c69-03bbf7e2eb20 CAID:CA386970356 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 97683b01-e5d8-48aa-b1b0-a64bdd68045d CAID:CA386970356 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 58c41c8d-9e35-4d13-ba4d-03b085505078 CAID:CA409106019 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e049ca91-eeda-4449-aee0-bc867849a3da CAID:CA409106019 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7d1f6180-58d3-4d4e-be51-ee4481a95fd2 CLINVAR:1744896 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 796e21e2-3a25-49f0-9c31-e441e5888f22 CLINVAR:1744896 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6bfea254-ed1d-40b4-9806-cdffca9f39c5 CAID:CA409107443 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 51faf8d1-7dc7-4e5a-8098-8edfb513830c CAID:CA409107443 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 230d2405-b8ab-4027-8d81-c93792e37f24 CAID:CA2573106200 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c00ba99b-eda0-4f2a-aacf-995ec27d5335 CAID:CA2573106200 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 49a6cf65-f8cf-44ce-8c28-fe09964d90d9 CAID:CA409108146 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8f42882b-3427-45da-bb9c-199d313a24da CAID:CA409108146 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fb37cc1c-2ca0-4b79-8e84-2685456745f8 CLINVAR:585923 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4b824837-ebe9-4f94-8517-105578169312 CLINVAR:585923 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b790c082-b818-4eef-aa3e-5d2c818cbae2 CLINVAR:804834 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 023d35f6-04ba-43ae-aab5-5b339634bad0 CLINVAR:804834 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eba566a9-b37b-44e0-b138-0beb8b36413c CLINVAR:481178 biolink:causes MONDO:0100488 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen bc2087e7-25af-4771-95b7-7890cc9a8419 CLINVAR:481178 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4a6f8911-175c-4078-a21c-450dca93f290 CLINVAR:532446 biolink:associated_with_increased_likelihood_of MONDO:0100488 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b7b09c9c-b227-4ab4-8b30-d2f67c342879 CLINVAR:532446 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 40878e18-7b01-49e3-b0f3-009716feaff4 CLINVAR:692767 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9c82318f-cf7c-485f-9409-b08e48922eca CLINVAR:692767 biolink:is_sequence_variant_of HGNC:7421 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f436aa2b-85c0-4335-a333-beb1abe51190 CLINVAR:228859 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7a8b44e0-bea6-4dc1-961d-9ce7edaa42b2 CLINVAR:228859 biolink:is_sequence_variant_of HGNC:7497 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a0479c5a-06c8-4510-bc5c-99ade5ea1ae0 CLINVAR:489846 biolink:genetically_associated_with MONDO:0100488 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ce0a3bbf-eb06-4928-9dfc-afba4357d309 CLINVAR:489846 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8dbac3e8-0061-4393-85c9-134d0bfa31af CLINVAR:230669 biolink:genetically_associated_with MONDO:0100488 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ffd24296-5805-47c8-b451-15dab97353ae CLINVAR:230669 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0bd34b19-f084-4ae9-b3e0-e36f1a121cd7 CLINVAR:481700 biolink:genetically_associated_with MONDO:0100488 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2f911f16-a74c-4690-a78f-9e21b88c1f0a CLINVAR:481700 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f6e497fc-418a-4d9e-a2a3-d132a560d3dc CLINVAR:481692 biolink:genetically_associated_with MONDO:0100488 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e5cceded-fc14-4512-baed-16ded4850295 CLINVAR:481692 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 030026f1-3df9-48b5-9717-742b26e35279 CLINVAR:483261 biolink:genetically_associated_with MONDO:0100488 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5dcd4695-0187-4339-8d42-a6fc3cf0d14c CLINVAR:483261 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ef629b77-acb9-4ed2-a532-b593b87f4f1d CLINVAR:584516 biolink:genetically_associated_with MONDO:0100488 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4f2a60f5-e13f-4510-97e5-44b89812e344 CLINVAR:584516 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f607d4e3-34c4-4b46-8cd8-56b6b49588db CLINVAR:220445 biolink:genetically_associated_with MONDO:0100488 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 647fc729-7ec6-4672-91a6-831198a85540 CLINVAR:220445 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0193350a-aea1-4e75-8cc6-55c13031122f CLINVAR:235370 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8586bd4f-0064-4d1c-babc-9e6cef99932e CLINVAR:235370 biolink:is_sequence_variant_of HGNC:7414 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 805afd18-de49-4e29-aeb8-21446611c271 CLINVAR:377369 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen eaa9ca12-9968-4a9e-92c7-9308193a9f1a CLINVAR:377369 biolink:is_sequence_variant_of HGNC:7427 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8128cb5a-b7d2-4767-a9fb-2fbd00478f14 CLINVAR:439912 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9cbd5b7e-0dee-4647-bc7d-c0409ae80e8f CLINVAR:439912 biolink:is_sequence_variant_of HGNC:7421 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 653a363d-9cec-47d6-9189-5039afd9bc79 CLINVAR:428630 biolink:genetically_associated_with MONDO:0100488 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7e3abc55-7652-4cec-bc96-a01b18b24779 CLINVAR:428630 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8760120d-c787-4090-9d82-da565c227302 CLINVAR:185005 biolink:associated_with_increased_likelihood_of MONDO:0100488 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c9e8b781-1f93-4646-ab21-b71378a06807 CLINVAR:185005 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1fb91c69-226b-4354-a80f-4a759e7242c9 CLINVAR:921477 biolink:associated_with_increased_likelihood_of MONDO:0100488 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a5b33590-7bd4-46fe-af0d-8194581cbd28 CLINVAR:921477 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d1c6d63b-1e77-4740-8f24-e7baaa0d82c8 CLINVAR:428619 biolink:associated_with_increased_likelihood_of MONDO:0100488 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f896c20e-1076-4c13-834f-542bf6a943cc CLINVAR:428619 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 01dacb41-6843-4bb9-9609-ccc0d88b386e CAID:CA2229914895 biolink:genetically_associated_with MONDO:0100488 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6fb39797-17a1-4427-92d9-167d9931ce99 CAID:CA2229914895 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a1216e31-dfcf-43f8-be76-72c116f80a27 CLINVAR:21076 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a3de31e0-31aa-4c05-ac18-09d44bfe15ae CLINVAR:21076 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e97d8bf3-d7e9-472f-ab8c-07574f10eb43 CLINVAR:16145 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2103d11e-99fc-411c-a5b2-08ea0cde6c49 CLINVAR:16145 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c4e81732-59eb-43ee-8880-9bf66ed1c18d CLINVAR:972776 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b4e59991-3f63-4654-a539-13530cf393fb CLINVAR:972776 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f74fadaf-fc42-4d1d-a61d-49e27b70b323 CLINVAR:2575092 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f3c89151-50c7-4bd8-95a2-4dbbd8398708 CLINVAR:2575092 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a76de8b3-8c95-4723-8a49-99e295bbff3a CLINVAR:7953 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0ee9f891-31dd-4489-993f-a6c8d5a927cc CLINVAR:7953 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1301187b-7225-4969-916b-ba942f7f6c6b CLINVAR:2575096 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 41926107-4cad-47bf-ac02-ef096683a728 CLINVAR:2575096 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e08b1388-7ff4-4c3f-8b47-03ce2a1c45e1 CLINVAR:2575097 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen be48c219-6751-4fb6-a32f-5094b29f7d84 CLINVAR:2575097 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fd6bd088-f9a7-4ba2-b6eb-8ca77eeb80ab CLINVAR:2575098 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 540d64e6-d0b7-4f14-866e-a534728640af CLINVAR:2575098 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dcddc9e0-8d8e-4048-93b4-d304af580ce5 CLINVAR:2575099 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen cd5b589b-5e45-4a26-821a-80c89ab9abbb CLINVAR:2575099 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 849d3a24-0364-490f-9f5c-6f1eaf2428ec CLINVAR:2575100 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 02830a7a-72b7-411d-9fc6-0a65af41722a CLINVAR:2575100 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 22c8e5d0-e37e-478b-a91b-33999bfa4ef7 CLINVAR:2575101 biolink:associated_with_increased_likelihood_of MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c7677005-3047-4d0c-a61c-095f7bb79208 CLINVAR:2575101 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 75ff7abe-e488-4617-9ecb-29ad8c9a0bef CLINVAR:2575093 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0d5c20d0-fe46-4dec-bf83-e34190491b4d CLINVAR:2575093 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5d9874bf-9446-44e5-8ef9-337548be20f2 CLINVAR:293722 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7daa4aa4-48ea-478b-91fc-143e50fbbe5d CLINVAR:293722 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5cb018cb-91f0-4df7-a203-b8a28a7c86b9 CLINVAR:293720 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 55283fdc-8052-4d3e-89e3-9ded2dd7faa0 CLINVAR:293720 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen faefb293-f644-4781-b6c0-53abda369f36 CLINVAR:293719 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 316ba1f1-451f-482c-9f3d-8fbfceb0839f CLINVAR:293719 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2845ff0e-cea5-42c8-bc13-e2f66ac9a6cf CLINVAR:875954 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 75164ad0-2dd9-443b-babb-3b5ca0383caa CLINVAR:875954 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 38d459f7-331c-44d5-93d1-f732347de73a CLINVAR:293721 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 52185d85-6e3d-40c5-803f-2d2c18e89f91 CLINVAR:293721 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0f090c9e-0d5b-4ff1-a45a-827557510299 CLINVAR:876999 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 407df299-c5e2-420c-8d41-0157e591d639 CLINVAR:876999 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 07817566-e968-41d3-8e56-95cb63cc92d3 CLINVAR:293714 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1a5e2ed5-cc7d-4021-9ba2-43fea624e817 CLINVAR:293714 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f832d278-2243-453e-9eaa-cab3e8872841 CLINVAR:252960 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen db4827dc-fb66-4a17-8579-18a1828d5cc0 CLINVAR:252960 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a3592427-9690-410e-8efc-256602f0eaf7 CLINVAR:293713 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c37c0ab5-4630-4093-8bbf-d63375704b61 CLINVAR:293713 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 78e77e08-919f-4a6c-89c0-58775222513c CLINVAR:242274 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 50912909-5731-4d00-ae1f-881d876d5a58 CLINVAR:242274 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1b21c658-f2bf-4253-a7bf-98de0561d442 CLINVAR:1324770 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 105aa442-389e-4103-9fd5-d2a5c36e9d19 CLINVAR:1324770 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ad5a8de0-b3b3-4a11-b626-c731ed172d26 CLINVAR:2575094 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 22400040-44d8-41d9-81d0-58b40bccfac3 CLINVAR:2575094 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 100e7de0-97b1-4352-a474-b215b39f166a CLINVAR:631579 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c0e1df98-2a92-417d-b59c-244d44eca27c CLINVAR:631579 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3771fd39-ab48-446c-a859-5b4176b9f838 CLINVAR:585908 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9d80b103-dc49-4f9d-8cbb-c1777eea78a7 CLINVAR:585908 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7261adae-29fa-47fe-9f9b-dba2cd1d3ded CLINVAR:36176 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ea64a555-45c8-48d5-abd2-feaeac35946e CLINVAR:36176 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 01f5954b-dc0c-4eac-9498-416983249fd6 CLINVAR:447425 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 550a5f16-570f-4dbd-aa16-6f7b0ef5047c CLINVAR:447425 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a08f40d1-93ea-426e-977e-41464dfa50c1 CLINVAR:1802685 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 514e0a6e-d9f2-47d9-8f67-f1035c1fcfa6 CLINVAR:1802685 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1343f278-b507-4754-a9bc-26676ef45def CLINVAR:381598 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen fb1f8c16-61f5-4ac2-b121-d0a6b5bf7905 CLINVAR:381598 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7e3eca66-361a-4526-a5f6-82c8e06add54 CAID:CA367398947 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ce2df930-5dad-410f-ad30-aae8bde865f8 CAID:CA367398947 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e8172d3c-1081-4544-a3af-6377b91fca89 CAID:CA367398935 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c057ecfd-da88-47d6-aa9b-e816021b8b01 CAID:CA367398935 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a517fa45-872f-4776-8e4e-b12c0c70e36b CLINVAR:447379 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1ea2f0c5-c45a-49ac-bb61-e931eafa4904 CLINVAR:447379 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 413cb968-fd3f-4b32-b221-100cc3d6be96 CLINVAR:129140 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f744b149-fc90-4636-8bf8-9303da92e432 CLINVAR:129140 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2551c584-7a88-405f-878b-a14af3c4652d CLINVAR:617645 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1a3109b8-5713-4b3c-adbd-7c200243cf2b CLINVAR:617645 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2a24c540-c619-4c95-a471-b3f841f3f5fb CAID:CA367398869 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a3b73b87-31bc-4c78-89e2-95045679fdde CAID:CA367398869 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d680e326-bb97-472f-8c66-4d47f1f86c76 CLINVAR:2578349 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 79111e67-5b51-4d30-bf87-a29299ca6fbb CLINVAR:2578349 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d5da8052-82ea-420f-ac7e-d3acd8b3b5ea CAID:CA367396716 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 48fee660-353d-4438-86b7-309df7953043 CAID:CA367396716 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f9d5b51e-2255-4f1b-97ec-90fc08c77c2e CAID:CA367396721 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3470ffa7-b871-4dfd-94e3-471b59f98d06 CAID:CA367396721 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 67fba10d-01ba-4490-b085-aecf61259c91 CLINVAR:447423 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b5ebc0a4-96e4-49e7-9406-a85ea3acb543 CLINVAR:447423 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 98b82e3b-5df8-4778-8fd4-68c7129a97e3 CAID:CA367400134 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e2750377-c7b1-4e37-8b8a-7f5d257147db CAID:CA367400134 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen db90a06f-15d6-42b0-ab30-532571e9c7c3 CLINVAR:1436793 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 861736b9-b577-4477-924d-c567a73aede4 CLINVAR:1436793 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 32b36c5d-b538-4b18-be96-8eae41b0a29f CLINVAR:16135 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1181e028-4150-4b87-81b3-8034d4175734 CLINVAR:16135 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d2b1e911-828e-46da-b100-f3c56224f72d CAID:CA367400569 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 49f4deb8-d1b7-4b8d-b8df-a656db2fb14a CAID:CA367400569 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 35d9e062-da45-4eb5-8d44-269854cc17df CLINVAR:447418 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 835cfd8a-c81d-489f-9c25-122cf783cd34 CLINVAR:447418 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ab00384a-de41-4c53-a65d-e1eef5c93ad9 CLINVAR:435302 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 560c1f1a-4bdb-4650-9f23-83ae1c00dffe CLINVAR:435302 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 32f11337-0a2a-43e8-bf60-c7088e4da6a1 CLINVAR:447417 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e62a89fe-dfed-47ec-babe-c8eb8a7fd698 CLINVAR:447417 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cc458a95-b8a5-40d2-99ff-ce9753c9694a CAID:CA367400582 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ccdc75da-e0fd-41f6-83ee-cfca38be830c CAID:CA367400582 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 76b30842-5500-4242-b081-3f7e34382792 CLINVAR:36243 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0d972381-d0d5-4def-ac94-7c1644efec40 CLINVAR:36243 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 430850b8-921e-4566-b16e-3f6940b5a84e CAID:CA367401977 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d75d67ef-56e9-4e01-a92c-6cb4ae0b71b0 CAID:CA367401977 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4137608e-47d5-48e7-b318-2510a76d54f1 CLINVAR:2428681 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ef13932b-0d02-4d5c-82e9-0e2e3eb76731 CLINVAR:2428681 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 79a37607-c3b3-464c-bf0c-fb08b2a8da79 CLINVAR:36209 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e0b7f24c-c96e-4a21-a225-f16db7566042 CLINVAR:36209 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 72c430b2-a8e2-4784-826e-fd40aa6b99cf CLINVAR:36204 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 44277b75-0c65-48ba-ab5f-559e439b185a CLINVAR:36204 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 32b1a6fd-2888-4f24-9dec-8ca74a65e4e6 CLINVAR:585911 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 661d4259-bdc8-421d-bbc0-4d6cd3f684c0 CLINVAR:585911 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 32fb9198-9234-47ed-9a04-038adb950815 CAID:CA2497028745 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4329d95b-a9ff-4ed8-b5dd-e7bf678eadd0 CAID:CA2497028745 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ba897b85-0785-42c8-be0a-01131f72ecb3 CLINVAR:994902 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 31972a9d-b044-4cd9-a9bf-1ef5d9e3a42d CLINVAR:994902 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 74ea370f-db8b-4319-90de-963001f5f1aa CAID:CA2573106198 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6449a6be-2d03-4d15-932b-2bcf1e23014c CAID:CA2573106198 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2c438395-5e3a-4be9-a9da-2c4a0c74a341 CAID:CA409106116 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a904ecde-03f3-486e-86ae-4f45819ed7ce CAID:CA409106116 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 85b66756-90ab-4088-a326-731c9c9a3239 CAID:CA409106207 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c5ac9adb-7b1f-4eba-94ea-1bc4f1b0ba4b CAID:CA409106207 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 07a6bfa7-3c00-48b7-bb18-3c2cd51f6f45 CLINVAR:1756327 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 42007d00-173c-4714-80bd-bbe7ca83d2f0 CLINVAR:1756327 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ded29ec2-b747-4ea9-8e8d-cfefa85ddce2 CLINVAR:972818 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8ff4dada-ff0a-4fcc-aaef-ef76af62c75e CLINVAR:972818 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9b505b7e-6c9a-474c-8e3a-e3607ab8d639 CLINVAR:1675516 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8ce4271f-f2b4-4445-bbcc-a93f404bbab6 CLINVAR:1675516 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 38fbfaef-233d-4c44-a65f-ee8e1e6949fd CLINVAR:751827 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 29f8b944-2a6a-48d8-aa18-ea35d790975f CLINVAR:751827 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9fe2cf97-e69d-49fc-bdc3-3ffec2785622 CAID:CA915940958 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9a459ff6-b592-4095-b49b-20cacc70876a CAID:CA915940958 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 85841ea2-99e0-4493-b343-5706daf5116a CLINVAR:323548 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 535dfd97-cd3f-42e7-ae7c-39431799e482 CLINVAR:323548 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6163db0c-a310-4e2b-a68f-ac65c1dd341c CAID:CA399801096 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 51865956-2c0d-4fa5-9aff-f3d2aebe2241 CAID:CA399801096 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4bf1cebe-52ed-4533-bb2f-870c85bf243c CLINVAR:888905 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ba9293a9-0b69-4481-9465-9316af1784e6 CLINVAR:888905 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5f499dca-fbeb-4f15-982d-ced6ae7aea4c CLINVAR:323571 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fd9de5b2-5d6b-4752-8b0a-b610d2e0a6c4 CLINVAR:323571 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3ba9fd4c-3897-4f8b-9d77-9b09b1fa9ef8 CLINVAR:2578344 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 762a75b2-6ef4-48f5-b16f-a372ad561a94 CLINVAR:2578344 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 786df0f8-839d-4b85-a102-5ef12ae927fb CAID:CA409103809 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen cd348b39-73d2-4004-9be7-e9691ccaf479 CAID:CA409103809 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 63c8ae90-157a-4d56-930e-e79e6406cfbe CLINVAR:422466 biolink:genetically_associated_with MONDO:0100488 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 73d57d3f-28d6-4378-b23b-2579bec627ce CLINVAR:422466 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4f386fba-247b-4199-ade9-c3c05c21b952 CAID:CA367403541 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4e932700-6dec-4c50-bcc9-84ecea347ca1 CAID:CA367403541 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 334c07a9-7ca0-47ea-9403-9134a96b7575 CLINVAR:393453 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d08eaa14-67fe-4649-8b35-1e18afd3fe81 CLINVAR:393453 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 29dcb192-e2fa-4884-a434-6ba134d90151 CLINVAR:419624 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen db4e7e07-4cf5-4893-bbdf-b8950522fea4 CLINVAR:419624 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1f7fd12f-39ce-4a19-8508-f9b9d2bff44b CAID:CA2573105963 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c627ae4b-2d5f-4e17-8d56-8af35dc01c94 CAID:CA2573105963 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ddf555fa-434a-4770-96ff-45b4832c0ba1 CLINVAR:447388 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0541b037-85ce-460d-a166-e9ed01dca064 CLINVAR:447388 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1d91a424-b618-460d-8a09-048518371fa1 CAID:CA367398536 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f90aef54-887f-46ea-9a4b-29451b50932e CAID:CA367398536 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b63ba337-691a-4234-a2e8-c994d03cdc03 CLINVAR:1301416 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 448e69aa-5b9c-4960-9c2c-e48a488e7c5c CLINVAR:1301416 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 998dd75b-5299-40b7-ae84-213fb312df49 CAID:CA2573051052 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 102877fb-0fb5-413f-829c-f75bdaeddc81 CAID:CA2573051052 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2f4102e8-aca1-446a-8701-57db63f213ff CLINVAR:36201 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ba243cc9-06ce-49a1-80b7-22e9b50c65d7 CLINVAR:36201 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 555acd10-03a9-4d72-813b-d2d29e0b5cf1 CAID:CA2573102980 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 11b24abb-aff8-4799-a914-1d484d64cba8 CAID:CA2573102980 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9a86259f-c472-48c8-9dbb-35db7c8ff11d CLINVAR:1365679 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e4264d4f-4348-4a8a-b677-ef90bbcc070c CLINVAR:1365679 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3da74db7-fe18-4bc3-8a2b-efe9520d8edd CAID:CA2017997777 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5cdc0f81-fcb2-4433-aacd-72276f1bc72b CAID:CA2017997777 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0f8113aa-3721-425b-acbb-a2b09c60be84 CLINVAR:585915 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 69ecc7c7-7aa6-45d7-8fb3-0298cd4fb87b CLINVAR:585915 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 18671ba1-f58b-47b3-8279-1d2daecbb3f8 CLINVAR:1799350 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 32d29fa4-7022-4984-90c5-054413069480 CLINVAR:1799350 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 948f0db2-d62d-4c1c-bac5-ac6adbea454d CLINVAR:289356 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a0d03a24-9f67-4af0-8e72-4a2f590bd335 CLINVAR:289356 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 772531a8-f916-49b5-afa3-9d63adea5dcd CLINVAR:286228 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 42dbe776-f0a9-44f5-8f06-dd3e91eaa175 CLINVAR:286228 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a516b0e4-84a7-4d26-8738-f667af9866a5 CAID:CA400025655 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e9662df3-bc96-4330-aac7-825a5d80dc3d CAID:CA400025655 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 172c4eaa-ed44-4012-98e9-0052eaa4a0bc CLINVAR:2581084 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6c07e454-6160-4fde-b3c6-dfc961351ea8 CLINVAR:2581084 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7190334c-5620-4c5b-8117-640a61f5b742 CAID:CA367397019 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 28454211-1afb-4098-9c32-90c0bca5f76c CAID:CA367397019 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 215c1ecf-637f-479a-8ac3-2bd22d40e23a CAID:CA2573106066 biolink:associated_with_increased_likelihood_of MONDO:0007453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3ca8da08-be67-48e8-8188-e1c0b7fc1fbc CAID:CA2573106066 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8ce4b978-eb2c-4160-81a6-16570ddeacf3 CLINVAR:1769182 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 08161428-b624-40ef-b62d-b40943905467 CLINVAR:1769182 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f4a5bd84-d5aa-47bb-8c98-8b3abb4c7c4c CAID:CA367398252 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2cef8f6b-60d4-4288-9c9a-5494afdd2b6c CAID:CA367398252 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d0a94242-ad61-4698-8659-0bc6ecdab745 CLINVAR:995102 biolink:associated_with_increased_likelihood_of MONDO:0007453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b2ae81e4-97d6-45da-a0c1-6ae5e4f243d2 CLINVAR:995102 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c1824c76-a071-4dcc-bdd8-6e0aea50ff8d CAID:CA4239418 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e5647abb-1f15-47ca-b0d3-8571f5be2a8f CAID:CA4239418 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a70916a9-3c84-4987-9ce7-ef8e6df2df7a CLINVAR:447383 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen dac48344-fb25-425e-853a-111e3e2924ee CLINVAR:447383 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7f3b4eb9-6992-4d99-9b0d-c4db6759cc8e CLINVAR:617652 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 38f1958e-0c5d-465c-9c9b-3586c159ed91 CLINVAR:617652 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9fa04a9d-14a5-441d-be25-7d9db765b1fb CAID:CA315411422 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 54836617-9782-44cc-9935-7f8e2ddde944 CAID:CA315411422 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9efabbd9-71d3-4856-829c-5e8c358c07f6 CLINVAR:1098819 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 68c3d1f4-9c2a-4a7a-a6d6-494e131b0e6f CLINVAR:1098819 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7ff30c1a-53fb-483b-9894-1e6660e6af2f CLINVAR:1299752 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 68a79269-2fc1-49f6-8067-e661482f24cd CLINVAR:1299752 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8145ebd3-269e-4a26-ae03-108e4c01cdb5 CAID:CA386966083 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5f299a2d-f6c8-4fe4-9ad3-0669be00435b CAID:CA386966083 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 597da3d0-e595-498b-9229-1453224b78b8 CAID:CA386966081 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2babb655-cae2-44d6-990f-462fc41d1221 CAID:CA386966081 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 707cdc7e-45f1-48bf-bcc9-1dd126268a88 CLINVAR:2581122 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7b149642-7904-4e0d-ac1a-e4e81f4a506d CLINVAR:2581122 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 57728f1b-c848-4c68-bff9-cfbab506a332 CAID:CA386959080 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d7fd8d2a-97fe-4d01-9b07-d68940deca64 CAID:CA386959080 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 28ecad47-9ba1-4ca4-b82a-64db3fab5bd4 CAID:CA2580610925 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 44444778-491a-4f64-a437-10830aa896ad CAID:CA2580610925 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 54328a3c-2b73-413e-8cff-3aaffaff161b CLINVAR:36185 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0cf89ec5-13ff-42bb-a8e8-6d0de96818b8 CLINVAR:36185 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ca2f80f8-6e27-4d2f-99b6-3b54a407e98b CAID:CA367398753 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7e8f3f43-0963-4bd4-af2b-2cb10de3f48d CAID:CA367398753 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 71594b73-c82e-4003-8474-1f0e3490829f CLINVAR:1727652 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7be2586a-6e94-4ff6-a6d4-0103ba9f6f12 CLINVAR:1727652 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ef02ef21-b0e4-49ed-95f6-db4014df309f CLINVAR:435310 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen edcfb80d-9c0e-4fe7-afee-db45153e01af CLINVAR:435310 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5c8ca66a-da5e-4a59-b425-79bf367a4d70 CLINVAR:2581126 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e4e7807f-8b67-4b9c-8c7f-968f00b18780 CLINVAR:2581126 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dd567c49-6080-4e12-861f-6815831c6afa CLINVAR:585927 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 15d150f7-527c-4efd-80f5-c3ad1d83385c CLINVAR:585927 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dc4eb77d-cdf7-40ea-82bc-121b0412712c CLINVAR:323566 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 28ec9f1e-1ff3-420c-95a3-e0331e036d78 CLINVAR:323566 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e24c1ccd-07cb-4345-85ea-7cb7647b38d6 CLINVAR:890600 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e2fa400f-7c07-4efe-be96-bb165845fad6 CLINVAR:890600 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f73bea22-4391-42ec-a76b-08fa04bd7dd5 CAID:CA915940646 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ccb5789e-6d2b-42b5-82f0-0f0dd7815fcd CAID:CA915940646 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9b759c67-0dfa-4deb-ad69-499cab6322ed CLINVAR:890135 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4278cd4e-a37a-411d-a55f-bb059a3871fe CLINVAR:890135 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a2f5716a-b2f8-4b29-90a6-8878dbc50a81 CAID:CA399804774 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f124eb02-af0c-4726-9af4-4766c4299e67 CAID:CA399804774 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 018fffe7-8a1f-44bb-ba46-3f81766fc628 CLINVAR:872751 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen bdf6444d-0b98-4e79-91fa-f7aa6acd63f6 CLINVAR:872751 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cbdc8185-b5c8-4135-bd75-4c2172cf570e CLINVAR:142905 biolink:associated_with_increased_likelihood_of MONDO:0100488 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen bf70c656-0a09-4f95-bdf9-371a951ed93f CLINVAR:142905 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f7958bab-04ce-4129-9de3-1f4243958be9 CLINVAR:239915 biolink:associated_with_increased_likelihood_of MONDO:0100488 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 17fcbb02-48c2-41bd-b0d7-38530208ed78 CLINVAR:239915 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f1507c86-6a54-438f-b5a4-980e4bf15661 CAID:CA409104369 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3d61bda4-8368-4c3e-bb0f-55fe90708f52 CAID:CA409104369 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1da45932-dcf8-48fb-983b-521c179975fe CLINVAR:427034 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 15eb2307-3989-4773-8319-c16efda84a7f CLINVAR:427034 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e02248a8-20ae-4b35-aa9a-a6e472983e40 CLINVAR:18019 biolink:causes MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 73627854-a088-4079-b730-d3e2e5714e87 CLINVAR:18019 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0eea67ff-0526-442a-ad5a-d8871a5f40a7 CLINVAR:627228 biolink:causes MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 20669d7d-f144-4854-a5f2-cfc0b77bfbc4 CLINVAR:627228 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9a8bc3dc-3821-4dee-980a-6d6bfb9fb4ea CAID:CA1139771046 biolink:causes MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e7cee0e1-ec38-43dc-9711-4fae891c363a CAID:CA1139771046 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f1a1c2f6-0c94-433c-83de-1e8ee2d0271f CLINVAR:18042 biolink:causes MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 74e1d057-865e-4166-a7c9-100ed4e7af83 CLINVAR:18042 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2a5ee844-9e9b-4652-93e2-d2327cf87ad9 CLINVAR:18014 biolink:causes MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 00156523-bd1d-490d-b8cd-a9fd9c7313f1 CLINVAR:18014 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 28e90247-ac67-4a5f-b5ce-9ffa16724396 CLINVAR:18034 biolink:causes MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 75e96305-13a7-4246-942d-64800c4a06fb CLINVAR:18034 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 123ee696-7e8e-4869-bd2b-a7334739b430 CLINVAR:627161 biolink:causes MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5e52d8f2-f6c5-4210-913c-e777fd526386 CLINVAR:627161 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d50dd8a7-15fa-4f07-b739-fa775b971638 CAID:CA343774795 biolink:causes MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d1e31511-2c36-44ce-b6e6-a52ec07356d7 CAID:CA343774795 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4cadfd85-f74e-467b-b27c-82384f9a0c50 CLINVAR:410384 biolink:causes MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4da456dd-bf7d-4439-a44a-bef76b87055b CLINVAR:410384 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 178ef323-c8f8-4a4f-9f54-e6b4cdfcc5f8 CAID:CA1670972946 biolink:causes MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d551e242-f9e1-4aba-a9a8-b5481c091cfe CAID:CA1670972946 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 050e9cd9-19cf-47bd-8fa4-6c47f0a23be1 CLINVAR:18011 biolink:causes MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b05b16c3-4d3d-4b2b-8b33-4b369fa25bc1 CLINVAR:18011 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bf59a226-f9c4-4971-a346-f59434ebb5c6 CLINVAR:447399 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 59a6fbc0-3cd9-4610-a2a8-267be704b823 CLINVAR:447399 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 758352c7-f585-4fbc-8234-0da93c380021 CAID:CA367401964 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6746145a-556f-4a4e-ac15-3c277575bb19 CAID:CA367401964 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1fe67abc-027a-4411-8af1-f8e82e322b1c CAID:CA367401896 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1f7b1d2b-ad38-4426-b3e3-ee482bab3e38 CAID:CA367401896 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b3606e0b-1849-4889-901c-63923e913db2 CAID:CA367398808 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen dc34242d-dec4-402a-80cc-edc5a9cbc9ac CAID:CA367398808 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a2eda880-ef1b-4f6a-85e0-ab85596c1271 CLINVAR:447420 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 72047855-6ba2-44bd-84a8-a438e2207819 CLINVAR:447420 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9467e592-1d27-423b-a4a6-6cd376b08fcb CLINVAR:43519 biolink:associated_with_increased_likelihood_of MONDO:0010134 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d6ab3a3d-6705-4668-a33a-38e1d0f25f04 CLINVAR:43519 biolink:is_sequence_variant_of HGNC:8818 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen baaa9d81-cd51-4a6c-bca1-324a246f32dd CLINVAR:37404 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5d9ede55-900a-46ff-bce4-e1a851c78299 CLINVAR:37404 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e09abc13-3719-4bfd-9166-9c1720fda334 CLINVAR:17662 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1295296a-58f0-476d-9f9d-9eaab4f34250 CLINVAR:17662 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5e6c5f48-60cd-41a7-9aff-f253ba42d1e8 CLINVAR:52430 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ccb64911-8494-460f-87fb-d865ae8e02ed CLINVAR:52430 biolink:is_sequence_variant_of HGNC:1101 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a6b77423-dcb5-48e1-9279-b2d69e0e161d CLINVAR:37635 biolink:associated_with_increased_likelihood_of MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e58da937-5ebb-4b59-88f4-3f174619ab17 CLINVAR:37635 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 732ccef4-9b5f-4b01-ab79-f223c602f8a4 CLINVAR:55451 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 95b183e8-6753-4741-afa2-92f0124f508c CLINVAR:55451 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5c7e38c7-7cdc-4c23-aacb-d0bf461408ac CLINVAR:38132 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e653178d-7abe-48fd-be36-0b8964539a0e CLINVAR:38132 biolink:is_sequence_variant_of HGNC:1101 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c4000ac5-4b9a-4437-90ad-1b07b6183dbf CLINVAR:246362 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 39a4e437-ff57-4f28-8a77-8dbbecc301cd CLINVAR:246362 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 933adbbe-43e2-4f85-8714-23d02e7c1240 CLINVAR:52475 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen bd769f61-c2ec-4fbc-af15-37f057286719 CLINVAR:52475 biolink:is_sequence_variant_of HGNC:1101 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4ce1283b-84ca-4c4b-a4ca-4d4509b4710a CLINVAR:54400 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen db3fff4b-86ba-4bde-aa47-d033efa38982 CLINVAR:54400 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 04678634-0bc6-4829-a7f0-43b6ece6d05f CLINVAR:54467 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 92fdec31-ac57-4cea-8d16-a60034d6e667 CLINVAR:54467 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5529bb52-11ca-4265-81ab-dc4845b4b5f4 CLINVAR:267530 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3e11515b-c8ed-4f4f-9fda-067d90887356 CLINVAR:267530 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d1edb578-e349-4d98-a056-7e815c779423 CLINVAR:55374 biolink:genetically_associated_with MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c2e6c0fb-1f6f-432c-9f4d-7957b4530404 CLINVAR:55374 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 038e4cf9-e057-417a-940a-7d134c0405db CLINVAR:431973 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 45cfed9a-5e02-42ca-b150-9cbb0e32c77d CLINVAR:431973 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ce1bcd19-8ec9-43d8-bc53-973129d1d8e0 CLINVAR:55392 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 119e9e11-7c47-4fa4-ac94-92248ae0b4f0 CLINVAR:55392 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5ce97f45-dbe0-42dc-989d-03f8fe44b299 CLINVAR:267601 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ca860afe-1af2-41dc-b5d4-e10e3d07c527 CLINVAR:267601 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 315a17a6-438a-4d74-bb44-8a736115e974 CLINVAR:55607 biolink:causes MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4c30ff0d-238c-493e-be1e-5d64d604d417 CLINVAR:55607 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a9aa983f-c7c6-4b0a-9aa3-9eaeb5249cc2 CLINVAR:9325 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 057dda6e-e452-47d3-9f82-9fda7dca122a CLINVAR:9325 biolink:is_sequence_variant_of HGNC:1101 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 52bc88f9-5af6-412c-b749-995fcb91103e CLINVAR:219896 biolink:associated_with_increased_likelihood_of MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 625e03cf-02f8-434f-938a-75db03fd2b40 CLINVAR:219896 biolink:is_sequence_variant_of HGNC:1101 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2c9d159f-01e8-4249-a27f-1b6150534c96 CLINVAR:52516 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4d7f06de-9975-421a-8747-fd636dbfe1c6 CLINVAR:52516 biolink:is_sequence_variant_of HGNC:1101 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7572ff19-1106-4720-9fc3-0d15427bd02b CLINVAR:38215 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9d4105c6-3d6e-42d8-a596-a428a5f499ba CLINVAR:38215 biolink:is_sequence_variant_of HGNC:1101 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1b21d537-628b-467b-b010-62c003014d5f CLINVAR:126203 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 486ed3f3-ee02-43b0-b346-a81cf1220eb3 CLINVAR:126203 biolink:is_sequence_variant_of HGNC:1101 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 59f48191-3272-4ca1-8f95-052c2ff86caf CLINVAR:38260 biolink:associated_with_increased_likelihood_of MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8e732e74-cd64-45ec-be33-76ce9f2a42b6 CLINVAR:38260 biolink:is_sequence_variant_of HGNC:1101 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 54df09a9-82d9-4651-b1d2-03a3b2d04243 CLINVAR:52919 biolink:genetically_associated_with MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b85f1046-e100-413f-adfd-3abd4c710839 CLINVAR:52919 biolink:is_sequence_variant_of HGNC:1101 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b9c0a156-d229-46d7-b693-88de0cd5867c CLINVAR:284886 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen bd5a768f-58d1-4da3-a79d-cb5729e2475d CLINVAR:284886 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 90e07491-cd91-4416-90fc-53d7167885fc CLINVAR:546808 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 543b73b4-2bfb-4175-a0bc-c257a18a1c66 CLINVAR:546808 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 51924197-1642-4260-8578-1c13b7901c83 CLINVAR:2664365 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 05d1a724-3c06-43ce-af1f-34e7f5ab7bdb CLINVAR:2664365 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eb665fbb-e174-419e-b8b4-eb3263a9e8dc CAID:CA16020951 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 303b979b-d279-4abd-80d0-1131ba5797b3 CAID:CA16020951 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 155af363-1507-425b-8c43-3ffff1f2070a CLINVAR:102717 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a23f408a-fde1-4c80-b453-3581f020e538 CLINVAR:102717 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 156958ed-1026-45f4-ae96-3f041a4343fb CAID:CA16020824 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 59e14598-9708-4270-876b-0b4139d71870 CAID:CA16020824 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4f0d44f5-ddc4-415e-9d16-843df8c6e97e CLINVAR:556660 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 289d887b-c8a2-45da-87b4-323340e40498 CLINVAR:556660 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d4288d5c-e74f-448f-bbaa-604d5ac87066 CAID:CA16020767 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f5bd01bb-db1e-4cf3-abbb-fbed0b486d6f CAID:CA16020767 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a3cf323c-b28d-4857-a684-5a942ada3a81 CLINVAR:21078 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 386d9252-e28f-4c62-9728-373dd47cd926 CLINVAR:21078 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7e336040-d513-484a-9d18-21f300669d3c CAID:CA16020835 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8538d07e-d2c0-4d01-ad39-8650ff798a22 CAID:CA16020835 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6ed431fd-9521-4166-8d64-ef63171af56d CAID:CA16020974 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 384bf498-303f-492c-9272-b12ebaca0591 CAID:CA16020974 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9341e885-c8d6-40a5-bae5-d83d2e67eed3 CAID:CA16020726 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen fb113678-ec5f-41e4-ac52-0f2265e6237c CAID:CA16020726 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c270f6e7-f72b-44ea-bcc1-b3a3b891b4b0 CAID:CA367400776 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6fcba988-068a-47c3-9d4d-b9e6e942976e CAID:CA367400776 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 04dc0998-caa1-4ed6-bab0-4b6086adf700 CLINVAR:36244 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e234e862-6a6d-49a4-bff6-0858681f2400 CLINVAR:36244 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6f83b2ce-07af-428e-b171-a40a9cd66304 CLINVAR:1172896 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 83a14e26-6775-4d63-9a99-bb69f94d994c CLINVAR:1172896 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e52de04b-1724-4134-8341-ef31713c2a36 CLINVAR:102532 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5a4e9bc0-d391-4dfa-bc7b-e1dbece401bb CLINVAR:102532 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 93025c18-8a7a-4e00-ae27-752e34371dbb CAID:CA16020918 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 800fc370-4b7d-420a-b41b-a974923607f3 CAID:CA16020918 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1aa7c186-637b-4df9-b20b-aca5b7d6f2c1 CLINVAR:102635 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 585458f3-52ad-4d28-b811-ffa4c65f3140 CLINVAR:102635 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ecfd8e0b-4ae7-46c2-b921-a28770f883bb CLINVAR:495789 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ac87ea59-7ce7-418d-b8cb-c302ae40a414 CLINVAR:495789 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3f3e9617-20fd-4071-9919-1e7568c86d96 CAID:CA16020717 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b4ce02c0-567b-46ba-aa07-ec497b8860c7 CAID:CA16020717 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 974bfc8b-9b05-4241-bede-09af0c38881b CLINVAR:102848 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b11f4a91-f8d9-4fc7-9981-82b05fbd2bca CLINVAR:102848 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d6d77472-e687-4dfc-9958-c0cfe0035f3e CLINVAR:558132 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9edeea69-e715-477c-993f-ab3961a506f3 CLINVAR:558132 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dd6fdd19-00b1-4aa0-9355-64891c212eed CLINVAR:102867 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 60560b23-c073-4cdb-b6cc-e495b094a9df CLINVAR:102867 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e35e39ea-42f1-45fc-af6d-333c739c2011 CLINVAR:102500 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b5a03b0d-3fde-4bf9-a82a-031dad5795b1 CLINVAR:102500 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b399510c-f057-4a2f-98fa-88f5c9c32846 CAID:CA16020799 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 61c68419-07e7-4384-ba62-368ab0a664fe CAID:CA16020799 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8c453b9c-7dce-4751-907d-76385c081a61 CLINVAR:536543 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b32d1399-6d43-466b-8e8b-8b64da39cd3b CLINVAR:536543 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1a6fe0ca-b32b-4937-b62f-ff7c858992bc CLINVAR:536558 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5ac34fa5-d057-4363-95a9-570469932dd1 CLINVAR:536558 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aa5654bf-bf08-47ed-b315-62ea3f449a3b CAID:CA8603504 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 17720c1a-cf92-4d2b-bd7b-856d214172cb CAID:CA8603504 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 964603ed-f88c-4a64-826e-f304ed96d3a5 CLINVAR:1687232 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 51f6d582-14f7-43d9-9271-f6cfb219e5b7 CLINVAR:1687232 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen da0a8ed3-7a26-4bcd-a59f-d1f9108728cc CLINVAR:2674649 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5ebaf922-1e0c-4630-b515-e5b0bb7710f3 CLINVAR:2674649 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c8c983ba-615b-41ac-b2c5-993f443849c9 CLINVAR:888826 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f56be135-c867-4790-bcf9-6077896d663c CLINVAR:888826 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c474b5ea-d2fd-482d-8ec5-69b407748866 CAID:CA913184731 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 422d8917-dd2d-4cbb-8131-c8a5de0aca24 CAID:CA913184731 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bbca48c6-0200-40df-9840-0152e3334811 CLINVAR:888825 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ba830b05-7b70-4983-b760-48492b3b6965 CLINVAR:888825 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0b84d8da-d0d7-4bd2-a0f3-3d499a85ca94 CLINVAR:888824 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 910bcfed-b8f9-4f85-bb5d-37a03dd71684 CLINVAR:888824 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 692f6a37-6be1-4dd8-93de-7585550e0380 CLINVAR:428195 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen dec0ab87-f59f-4c6a-8b1d-3cebea25cf07 CLINVAR:428195 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8a66893b-77ea-4ebf-83db-98847d704f84 CLINVAR:1334551 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0b50063f-ff75-46f7-bfb8-388cb769da0b CLINVAR:1334551 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c9f4c9fd-5137-433d-a85d-ebec163e31b0 CLINVAR:189400 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b0b75d37-54a2-4178-baf7-a11f81ae8780 CLINVAR:189400 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 21700abb-62e4-4d23-9c77-74bc740c3dc6 CLINVAR:486972 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 169cffd2-e0e9-4196-bef2-bd95a06a3803 CLINVAR:486972 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 53f5af93-4eff-4615-9413-13ac97b6e257 CLINVAR:818421 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 424e1c22-edc4-489c-9e6e-147fbd21d972 CLINVAR:818421 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bb99df2c-59c1-450b-a36f-36e442280206 CLINVAR:184277 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f33be964-3f74-4d97-b945-44f17603fd4d CLINVAR:184277 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a7af3c9d-eb1f-4a6b-8a7b-eb4451cf7d14 CLINVAR:1704153 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0afdf1c4-53e7-4e26-839d-918b747df235 CLINVAR:1704153 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e5afffcc-ce01-4a70-ab0a-20b27e83d671 CLINVAR:1320976 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b2e74f83-f96e-42de-8bda-197f4d8b054e CLINVAR:1320976 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fcc6a58a-214d-4584-b635-e71f063bd6cf CLINVAR:427589 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f027aa18-1068-4efd-bfba-2935b0661a91 CLINVAR:427589 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b0927101-8178-4fcc-855b-0dad152c2b33 CLINVAR:428243 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 833d7e70-e3dc-4627-912c-5e40ec73266d CLINVAR:428243 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 699514d6-0b97-4a37-868d-612b3a257294 CLINVAR:280724 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6a7ec42b-2879-4009-9d7a-04e778d79adc CLINVAR:280724 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 76f0151e-3e37-4820-96f3-8253b2a0e597 CLINVAR:943637 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7cc9bfa7-b9ec-4a5d-9966-66c137759720 CLINVAR:943637 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fa61db74-a22a-4953-bdf6-9be6451597cc CLINVAR:428266 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ce1544b3-1799-4c80-a102-8d41eaf62f93 CLINVAR:428266 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 721cbdb9-8dc1-4829-82b6-8c91183d1c59 CLINVAR:233456 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 17d59e58-b9c7-4f87-9edf-018810c0ffe2 CLINVAR:233456 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 067a83b9-9bba-434f-aa1e-ea345b8ab0b3 CLINVAR:393451 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f7744f30-a528-4960-8cc5-66957f199dff CLINVAR:393451 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6ffec632-c2dc-4c0b-8db9-95ea5c4190d0 CLINVAR:435311 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c06878c1-2be1-4ace-a963-7a69c73ba227 CLINVAR:435311 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 94314afa-b83c-4a63-a3ac-40e59eb45ab4 CAID:CA16020760 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7df90d16-7290-4215-b5b9-16da3ded0170 CAID:CA16020760 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a5500981-85f2-4ea8-b104-93ee541ccc0b CLINVAR:211073 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 58274c6b-1b6b-4f38-a197-5eb5ac9e179c CLINVAR:211073 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 086dc938-3ab5-49e3-b191-bdf019838da9 CLINVAR:555864 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 065137af-fc24-4cb8-a67a-44671280eeda CLINVAR:555864 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 746b5fa7-940d-4bbe-8c64-969d43d3a783 CLINVAR:4024 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d18d89c0-adeb-4ac6-991d-08a552bb7091 CLINVAR:4024 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen da5ad039-9b9a-4138-b385-d7ced18c4d0e CLINVAR:290225 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ad76099b-ff72-4886-af03-17e534431325 CLINVAR:290225 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7dcb2493-e7c5-489a-b622-1e505f4515f0 CLINVAR:189007 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 95c5cf85-5677-4537-a9b2-ea48c91b659a CLINVAR:189007 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ada519b2-e5f7-4398-8639-96e7b5c4eb19 CLINVAR:285366 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 59981508-eb89-4133-9054-b5e53d9485cb CLINVAR:285366 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 680c0c41-c412-45a3-b310-aacd2e5c67e6 CAID:CA915940648 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0f2f8b44-92e1-4927-b0b5-cc238106a94a CAID:CA915940648 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f3860d20-0697-452a-b67f-a5cbd87faa17 CLINVAR:323546 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1a6b7e6c-193e-4632-b7c8-ec31900d097a CLINVAR:323546 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 32259bf0-a6f7-44e2-af09-9cfbfb245c73 CLINVAR:995104 biolink:associated_with_increased_likelihood_of MONDO:0007453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 166b62a5-3561-4ad6-be34-702a77ba2a23 CLINVAR:995104 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b2ecb837-bb9e-4233-beed-4ab2014bc17a CLINVAR:995103 biolink:associated_with_increased_likelihood_of MONDO:0007453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b87d57aa-5309-4a8d-b74f-0878226a11df CLINVAR:995103 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 97169c14-6f66-40b4-8cc0-b8b9a74f9dce CAID:CA2573106065 biolink:associated_with_increased_likelihood_of MONDO:0007453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6f749ec0-2260-4bdf-bc4d-ab9302c51c75 CAID:CA2573106065 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f886f10a-8c79-45e1-8568-9a80f0b96ee4 CAID:CA1139771343 biolink:associated_with_increased_likelihood_of MONDO:0007453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen aee03d87-f627-40e1-8c23-ce08cd18a05a CAID:CA1139771343 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 59904557-933d-4c5d-9642-cabc2c2d672c CAID:CA367397333 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2b8535dd-bf37-40e9-99b6-6a5bcba874c7 CAID:CA367397333 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen da9a2864-9abb-47ab-b707-21539e72af3a CLINVAR:447380 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9ea8d357-65b8-4154-a16c-8e8bf437e44f CLINVAR:447380 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f9b12970-583f-4526-8dbc-04238f8f57cf CLINVAR:370043 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 431a038c-54ea-4340-8d01-fa8834eeb8a0 CLINVAR:370043 biolink:is_sequence_variant_of HGNC:7500 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1b6e64a2-868f-4d1f-a330-42aab25db795 CLINVAR:9717 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 16ec67dd-775d-40a6-8a8a-d1e5083be95a CLINVAR:9717 biolink:is_sequence_variant_of HGNC:7456 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5a7f26f3-3fe2-4156-9bcb-c540becfbf44 CLINVAR:1026606 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 14115122-fa83-40e4-ba17-825a8f0c8629 CLINVAR:1026606 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c78f9e18-affe-43e6-93b3-cc52e2736f28 CLINVAR:339811 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 953f7aaa-0717-41c0-b988-c14cf8932431 CLINVAR:339811 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d0233167-6a66-42f9-9e87-d1730d6dc6d7 CLINVAR:658195 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7d7ee7c8-0c0c-43c6-a6d6-459d9fb99d99 CLINVAR:658195 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9b5c0a42-f8e6-4ed6-b0d5-d68da9988579 CLINVAR:409809 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a470399c-0d8e-4968-b81c-65a3581e0216 CLINVAR:409809 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 19a6e28c-60f2-4f45-a6be-df3e44deb8d4 CLINVAR:1118048 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0a1f9cf1-e6d5-4dd5-b0aa-fadf2ecff47f CLINVAR:1118048 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 469ed7c2-0d50-449b-8c1f-49266884a4f4 CLINVAR:961001 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9ad796fb-1959-4c2b-93b6-ee20a2435496 CLINVAR:961001 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 790dd55d-c3f0-4d57-8a51-abb5691bba0c CLINVAR:415829 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen afe22a97-c7fb-46a1-a9da-5291f1a014c5 CLINVAR:415829 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3158949a-175e-419b-8f52-5310f210e9ba CLINVAR:464013 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4740f059-3e3f-4fdd-819d-ba79401e3964 CLINVAR:464013 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 79f445c1-5581-4e81-9773-3378d91a34fb CLINVAR:532665 biolink:genetically_associated_with MONDO:0100083 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1409954e-5c9d-4913-a05b-b9b69c3994e5 CLINVAR:532665 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ed8cd4df-bd1b-4273-9203-0265688611fa CLINVAR:843240 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 04c76a7a-6203-4dd1-9ae1-a6c72faadc73 CLINVAR:843240 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cab32155-e593-4e29-82b6-dde1812e1f1f CLINVAR:858424 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0186ebea-9db4-4377-a7ca-8d21ec66a073 CLINVAR:858424 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ee034c40-66f1-44e0-82c1-a2cece6b35f0 CLINVAR:896170 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3e4db7a4-4ceb-40d9-85df-f91878514335 CLINVAR:896170 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3f88c6e1-613f-4d52-9e86-c020a657d550 CLINVAR:937756 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a87eeaa0-0c7b-4d48-a355-bdf8b8b8a231 CLINVAR:937756 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c36107d1-27d2-4e92-a318-b94e0480d3d7 CLINVAR:946753 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 10eb8d03-75bf-4aec-a4bf-3dc2d948c265 CLINVAR:946753 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 59f285cc-4176-4322-a9bd-22fba512db4a CLINVAR:948058 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1d477842-905f-4d41-ba71-b89eacbfbdd7 CLINVAR:948058 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 318d6ca6-c27e-4546-a2fc-8daeef942c30 CLINVAR:956926 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen edd6dcb4-9593-4d9c-83c8-40998d085eba CLINVAR:956926 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bde18bb9-d94f-4f48-b3eb-ae72359be8f3 CLINVAR:961354 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2a86e9f0-af5a-4e7a-b17b-ac84532c0cd8 CLINVAR:961354 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b8d60fc8-9365-4ebc-959c-71f2ef9d36c4 CLINVAR:966436 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 306a5746-fb1f-4bbe-a553-bf279855898a CLINVAR:966436 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d6fcea78-3246-4044-a380-c70eae61cce1 CLINVAR:1002421 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 109e900e-9896-4073-8a98-109aac5951e7 CLINVAR:1002421 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2ad1a7c8-3922-42e4-81d5-10681f7dc4a6 CLINVAR:1010850 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e9fa7528-827f-4741-8a6c-a98d972deed9 CLINVAR:1010850 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 109af8b1-3d3e-4ff3-895f-6f1ae7e1a7f9 CLINVAR:1021717 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 96862f06-ee27-4b2e-a24d-5342e55c6912 CLINVAR:1021717 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5a000e90-d435-4809-ab60-1c1c8d697865 CLINVAR:1378669 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 67a6912c-f0d2-4b76-8094-8fb3d8c3a532 CLINVAR:1378669 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 87c14c3f-3059-44e6-a06f-31a6ae711edc CLINVAR:1439341 biolink:genetically_associated_with MONDO:0100083 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 689b3efc-bd14-432c-9927-144fd61ab0eb CLINVAR:1439341 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9a4131f7-2bcf-40d3-b7da-c6e896ab3ff3 CLINVAR:1465820 biolink:genetically_associated_with MONDO:0100083 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8647673a-dbeb-4e4a-9bc7-f0a1fe24d5f6 CLINVAR:1465820 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 827b7f67-befc-4123-9f9c-05991eb1b5ee CLINVAR:1704949 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8fb33d4c-c523-4cbf-91a5-7b1beb832bd3 CLINVAR:1704949 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5df9a7f1-8913-4a33-9f58-c9f91eb36c68 CLINVAR:1721570 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 78282d8f-68ee-46f9-8928-9a6affa3c37f CLINVAR:1721570 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ddf6fdc7-8efa-494d-b805-441defb9d6f0 CLINVAR:2001260 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2e4c8382-8fa3-42e2-a84a-7fa66f8a1fb0 CLINVAR:2001260 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9582db0c-ed2e-4bbd-b9a4-9c3feeebefed CLINVAR:2060834 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c92ed312-172d-41fd-931d-9e6a8408836b CLINVAR:2060834 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b7bddcf9-d9cb-4989-82e6-79341c8e199b CLINVAR:2061265 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4b1f717a-3f9c-484f-8b53-90ec305dca65 CLINVAR:2061265 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 27c1d4b1-6706-445c-bd2a-cda26b7c6c36 CLINVAR:2073628 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 50ff43e4-2375-49a6-9964-1f3e173c07bf CLINVAR:2073628 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 842c9ba0-6a76-40db-b88e-5362e804d563 CLINVAR:2418762 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a8eed0bc-6549-492f-8119-7ad82b74d007 CLINVAR:2418762 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d2a806e5-7c61-4ebf-a66e-26857b16285b CLINVAR:2422003 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 08fd0080-df41-4a96-9f0a-3cadb9bc387d CLINVAR:2422003 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 971e3003-fc1f-4a1e-9b3a-d8cbcfa6114d CLINVAR:1068986 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7aa60b03-e9ed-477c-ade0-adceea583273 CLINVAR:1068986 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 01aca0b0-8bce-42c4-939e-1f079384d4c9 CAID:CA367403551 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 41a07b2c-fcbe-4919-8c08-fc2b49972602 CAID:CA367403551 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 11e4c909-1627-4a8d-b508-6f71a5a7d8cc CAID:CA367402684 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen eb0c275e-22b5-435a-89c2-28d7cba51e6f CAID:CA367402684 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 91320a67-ea8b-4ff4-a792-fda82fc79aa0 CAID:CA4239602 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 69b728ee-4352-484c-b7fe-14aaa842062d CAID:CA4239602 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 38927eb5-7424-427a-99ae-9e82fb4dd0a6 CAID:CA367398804 biolink:causes MONDO:0007453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5243c085-048f-4fa5-bccc-5e9c5c3f3971 CAID:CA367398804 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 04a418b4-d665-4a76-994e-c5db7b6086ee CAID:CA367402580 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 48188e4f-538d-494f-b4f0-4096ec74a6c1 CAID:CA367402580 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e720cd45-bfb8-4907-9593-dfc411a9877a CLINVAR:2581305 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3dcb059e-8b0a-443f-a1a9-38e3f3c45d84 CLINVAR:2581305 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen db40b90f-e22b-4de8-b0b6-f9ab796415a5 CLINVAR:1709730 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 18cf6bbc-d134-4731-8c12-a94c1b753b6b CLINVAR:1709730 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8af706d9-4ca6-41e1-868d-f93c769cafbe CAID:CA367396980 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 53c9668e-de1f-417b-bdea-7b8d38747458 CAID:CA367396980 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 320edb48-be7d-4f31-bd65-7260a2287209 CLINVAR:432386 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b7fca08f-b0e7-442d-ac58-10d940a80dc6 CLINVAR:432386 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ebb2b1c4-daaa-400e-995d-c4a45058c652 CLINVAR:994613 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 493a8b95-ddcf-4989-be43-28ccb00e0d3b CLINVAR:994613 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 676f9ce3-8af1-4b48-9434-57c80c05707b CAID:CA367399681 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9951a238-ce1d-4b99-bdad-113f5c203ab6 CAID:CA367399681 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 86de5e1c-6ead-421e-83db-a246cb9d3710 CAID:CA367399678 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9f2aa190-375d-40cd-acba-5b272559b33c CAID:CA367399678 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ed3ad6c1-2a21-49d8-aa73-93c2eec2cbf9 CAID:CA913189165 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5f359afd-c9e3-4de6-aa87-09536c20e501 CAID:CA913189165 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1b54fb1a-2c13-495a-9c7e-9f96c63e07f9 CAID:CA2580617739 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5adeb739-254d-4d6d-97b2-78dc977a92df CAID:CA2580617739 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c0e6e5dc-4434-4923-a04f-70d528919293 CLINVAR:36239 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ff03c094-c63f-4960-b635-ecf31b58ff2c CLINVAR:36239 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d507ea64-392d-44ed-84c9-bb3a7a5e6988 CLINVAR:36233 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 720cc9b0-15a4-4a04-9c42-7b5ae5091373 CLINVAR:36233 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3a307ad3-dc6e-4386-9a2e-11669b56e774 CLINVAR:1490297 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 40d697f5-0dad-4b64-a36a-4a6ada638be7 CLINVAR:1490297 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e6ecb0cf-f6c4-4cff-bbef-805b7b598f30 CLINVAR:995372 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen eb60aa8c-2d20-4c91-8cc7-6c2a04900e5a CLINVAR:995372 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d9774863-3a7e-4152-9dc0-4ef595e5a890 CLINVAR:804856 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen abb95bdb-9416-4b94-ba8f-b804f358f458 CLINVAR:804856 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f5faf37c-e5c8-4b88-8e5c-267ab7371dd0 CAID:CA367401545 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6e9c0758-c504-460d-953e-5560f045d043 CAID:CA367401545 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f0e32b09-ebb3-4c45-a26b-4b403c51be80 CLINVAR:198397 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4ea71c0d-921c-448e-a4be-90e8b5f1dfd2 CLINVAR:198397 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bd0bf28a-7ddb-4cba-ac4f-cc9cd1789d21 CLINVAR:9212 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ca7718d3-6d2f-4b56-8dcb-fe86d860168a CLINVAR:9212 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 227322f9-2a9e-4e7d-85a9-39ed50cafa0f CLINVAR:36190 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b6aa2b3f-370b-40a0-8941-fd29b8d5f548 CLINVAR:36190 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d0cd7b4b-a100-4f15-b654-685738b5aea4 CLINVAR:1496579 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 132401a5-153c-4fd0-8e77-90db01fd2a17 CLINVAR:1496579 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 024e262f-327d-476d-b44d-20643d6c0f7d CAID:CA367399833 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 21f1b088-5919-44bf-b8db-6f586682f470 CAID:CA367399833 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 93a83584-6e28-402c-ad0c-a1f052ee2f76 CLINVAR:846588 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5800cbb4-6207-4487-beee-86f4b69c781b CLINVAR:846588 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a9aa0ad7-a943-434d-ba09-1720e0238b31 CLINVAR:1338446 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen fcd93bc7-59d3-4452-bd0f-37020fa66434 CLINVAR:1338446 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bf6b2af8-4099-4a0c-82b9-c6d9c9cf94bf CLINVAR:1746441 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c1ec50ef-dcc5-4474-858d-66dbd5a75162 CLINVAR:1746441 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aed95475-c46b-4138-910b-d13eb6d959f5 CAID:CA367400539 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2e5d72ce-ced6-4bfd-97b3-ab63985f67d8 CAID:CA367400539 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b7311393-2d5d-4dc2-8b18-f37442144c68 CAID:CA367400540 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen cf45696b-51ba-4867-99e4-d13f6ba0644b CAID:CA367400540 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 826b429e-8f9e-40a3-b97b-d381baaac505 CLINVAR:995101 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 765b5ce2-08dd-4646-9887-e2e97b940883 CLINVAR:995101 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5e5b9467-7b13-4b98-80f5-9eb224fb29f6 CLINVAR:2664355 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3d1c215a-669f-4548-8b85-43413b87cf45 CLINVAR:2664355 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen db239214-53ba-47bd-ad22-e9efa4b96dd0 CLINVAR:2664356 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen fecfe6f7-fd92-4bab-86f1-5e789f5ff28c CLINVAR:2664356 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 753f3e9a-0045-4c2e-93e2-c916ca9c77d8 CLINVAR:456370 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fbf66428-0385-49c5-8503-e9f4bc80a7e1 CLINVAR:456370 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7dda33a7-4ea3-4662-b4d2-4de8f03f1af4 CLINVAR:632823 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b83b4351-b9a0-47f8-9b4b-b3d50f3f77d5 CLINVAR:632823 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b98cd47f-271a-4c65-aca9-efcfd45d1f5e CLINVAR:289367 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ae0f1b4f-143a-4363-8b2f-6a04bb0152eb CLINVAR:289367 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d034dc3a-0958-4b57-a13e-484924582713 CLINVAR:2151633 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 66de0085-8d81-482a-a6d1-6f80ea0315a3 CLINVAR:2151633 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen da141966-b4fe-4a3b-a9cb-b586deaad9ab CLINVAR:555820 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen bcc6a1d0-f74d-4dc4-b6b3-d8a652056843 CLINVAR:555820 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7bdd10ea-4924-4ad3-a0ed-86e30b318584 CLINVAR:371622 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b7a1dda0-7055-48f7-902a-e0f25ce31301 CLINVAR:371622 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bf399a7b-d347-4be6-bc01-9cd1ffa6c9b4 CAID:CA367401747 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f5d3e0ab-819d-4db5-a946-1e4a5ced2576 CAID:CA367401747 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 91c5c4b7-e9b8-41ba-8f18-82e0e94a07da CLINVAR:585921 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen bed62aa9-f2d3-48e2-b2c6-186bb90d6107 CLINVAR:585921 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8cfcb1eb-a27d-4eeb-b751-c906ba1c3f80 CAID:CA367401907 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6742e7fd-2c20-46f2-a01c-7ca7084d0e26 CAID:CA367401907 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8d506c1b-72d7-410c-9699-51630924ce02 CLINVAR:585917 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f3b72f5b-7af2-4fdf-998b-09bb7326330a CLINVAR:585917 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aa7fa74b-71e5-4605-a157-f637a5648a76 CAID:CA367403544 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b8b61e4e-efc9-4498-aa6e-d1480a1fce40 CAID:CA367403544 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f76aa380-715c-4324-9939-8b002af95567 CAID:CA367358349 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 976322a6-00ed-40ff-9af4-d4565a0fc433 CAID:CA367358349 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ca4985a5-ac4e-483d-b517-2fb7e4039b56 CLINVAR:561231 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f8ac18cb-e426-45ad-a161-19e6ba26b22d CLINVAR:561231 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cf45f94d-e0c5-4b90-bc93-c1f8d05541cc CLINVAR:1684431 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen cdf47b6b-00e4-4ba6-b26c-ba9dc74c09bb CLINVAR:1684431 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c31d2f4f-1158-4f8d-ad77-b0e2ae7bb647 CLINVAR:1706546 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ea7a2279-eaa5-46a7-b93a-0b399508e7d5 CLINVAR:1706546 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0f81150e-58f8-4dae-8626-867a7a6c84a2 CLINVAR:1073884 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e4f1afc5-fab4-43a9-b9d3-cdbd6fa29a33 CLINVAR:1073884 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 097e54f6-f386-4d9a-93fe-a050583625f3 CLINVAR:945290 biolink:causes MONDO:0100083 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7060d189-374f-4371-94a5-84d413cf065f CLINVAR:945290 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 747e3d44-ed13-435c-a2a1-0d6f03bd710f CLINVAR:988837 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9985df00-f5e9-496c-8134-33f813201adf CLINVAR:988837 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5386fbf2-05e2-41ec-927d-2a903d104444 CLINVAR:1074523 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9aae088d-5f0c-426f-bf17-1c63c508ea10 CLINVAR:1074523 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b25dcf11-97a7-45cc-b652-0f0ece6164b0 CLINVAR:2123057 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5bc8c6c0-b359-4b02-bb11-53da03bbccc6 CLINVAR:2123057 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 41dacac7-3914-43be-b1e5-0ad9bf3246ff CLINVAR:647118 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ab4c6048-8ca6-4e54-9059-efe3ff6f51c7 CLINVAR:647118 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2617eefe-4cfc-40a7-8a22-1f81c41ec553 CLINVAR:1684407 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen fdaa0854-bee4-4d46-9aee-aa4826891fa6 CLINVAR:1684407 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ae9e756b-1c58-49f0-991b-3b4182b7e524 CLINVAR:1691247 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0454c7bb-f3d6-43f2-a66e-18c7a1949573 CLINVAR:1691247 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 67375066-e965-4557-b192-b6688a95369d CLINVAR:1691248 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d3f6bb37-2467-4eb2-93d6-e218fcbc5dd0 CLINVAR:1691248 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4a83f433-6dec-4fbf-a85b-ee129b41dd02 CLINVAR:978818 biolink:causes MONDO:0100083 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 34858498-2042-4ac8-b0ed-9d9a4d7a27f6 CLINVAR:978818 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3e413848-4143-4f98-98e7-58afa578cc11 CLINVAR:988416 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 58527a70-3291-4d00-9750-9c405ca17042 CLINVAR:988416 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7e75571f-f11f-43fc-9469-fac424fc315c CLINVAR:1013619 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c00f648c-3618-46fc-a585-de910de20570 CLINVAR:1013619 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5114ee92-fe91-4449-b0c4-bddef707f25c CLINVAR:1071785 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4b34fe61-621e-4281-980f-a3a768b39a8a CLINVAR:1071785 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3566d4b1-ebcc-4153-ba27-604064275b6a CLINVAR:1692643 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 53d7187a-6675-4383-944f-a7ff62c2fc07 CLINVAR:1692643 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2e788920-a55b-4fa9-a196-c7de9d56a478 CLINVAR:417476 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9e9f9edd-4de4-4d5f-9cd9-090619fec4e0 CLINVAR:417476 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8882cb22-b4d2-4d62-b01c-3a2f9bf716c5 CLINVAR:1460018 biolink:causes MONDO:0100083 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 67cf6c8e-3f17-4035-a710-58686f5bcbf7 CLINVAR:1460018 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c5136a8e-c1d8-4638-b653-ac7ba596052e CLINVAR:832666 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen dbbcbe89-bb96-4046-8a61-4ee278fb7990 CLINVAR:832666 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a29f1449-c2c6-4460-aa12-98cd84c227a7 CLINVAR:1073907 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen fad54128-a165-40c2-982f-b13be9d5ad39 CLINVAR:1073907 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8a708d04-0048-4876-a5b7-127adf9db912 CLINVAR:833071 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 78e84275-cfa8-4c4d-a891-5b1006d885fd CLINVAR:833071 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 49bd1060-b73b-4d25-b362-25eb92b55e08 CLINVAR:871175 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f3f1c6a7-90fc-459d-b6b4-ff4a8d3bec8f CLINVAR:871175 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dcaab8a9-f323-4e9b-acd6-559104126bd6 CLINVAR:1065583 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a35a650d-1929-4cea-bb92-b84aa935d102 CLINVAR:1065583 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b4b51305-a76f-4ae0-9e6d-967fe7626c86 CLINVAR:389962 biolink:associated_with_increased_likelihood_of MONDO:0100083 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 39027292-0136-45bb-a7fa-98bb33c6448f CLINVAR:389962 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7fe21baf-ad8d-4c4d-ab10-4e1b8f00393c CLINVAR:1518631 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 927bdb8c-d815-43a0-bfd2-3c412d3c609d CLINVAR:1518631 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3cd151da-bab8-48e8-956a-8164e91a3301 CLINVAR:988808 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e834c265-1f73-4e8a-9eb8-9cd6a7feea52 CLINVAR:988808 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 889eecbf-82c2-4483-ada2-b729e6cfb8a2 CLINVAR:561250 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1fcb6766-4014-472d-8087-f4a7f66f7ca1 CLINVAR:561250 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b0804ceb-ad08-41bb-bddf-65a77876c513 CLINVAR:2665098 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 34c050df-51ca-4046-8c5e-f96c24609ebb CLINVAR:2665098 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8c473f02-57d7-4ce1-b712-16c16e36d8c6 CLINVAR:561251 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3d6e4dbf-9869-431d-897d-952fa72f2be3 CLINVAR:561251 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c90b5bea-72cd-492e-9690-a851e23b7248 CAID:CA2573320718 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 19c76536-03fe-4107-bf82-d8426085ea28 CAID:CA2573320718 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4b7f376a-3a07-4b62-a5c3-20027870c842 CLINVAR:2011850 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3d5aac1c-d825-4817-818e-dde978310678 CLINVAR:2011850 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ea346df2-5789-44fa-8fdc-36fdf8ceffc9 CLINVAR:2003897 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5af56e36-e8eb-49cf-9a97-6d3b2caeafaa CLINVAR:2003897 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 207a968e-270f-4c07-bc63-0f55d3674089 CLINVAR:2014537 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen bb615cf9-e228-4749-bfcf-1b8bde6e42a5 CLINVAR:2014537 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 25147229-589c-4f8d-b234-775411b3027b CLINVAR:2504110 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ecb0aa5f-d86b-497e-aa6a-5a7894f0b8c9 CLINVAR:2504110 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4f5a7b76-04bb-4587-a339-9f197315d195 CLINVAR:561234 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c9c9f44f-7a29-4e82-bac2-822071a869eb CLINVAR:561234 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 62c0ed52-c0f1-420f-82cb-eda456b872d0 CLINVAR:1338536 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0b2c55e5-728e-4a04-b6df-e9852842cf4a CLINVAR:1338536 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 687247fd-1a59-41a9-b391-dfeab3eb6ad7 CLINVAR:2129871 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 39177559-0649-4204-b140-71b557b303ca CLINVAR:2129871 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8544131e-457c-46db-866e-af7d55e8d22d CLINVAR:836448 biolink:associated_with_increased_likelihood_of MONDO:0100083 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 67025341-3144-4bb3-93f9-89dcf382fd47 CLINVAR:836448 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5020b0ff-3469-4586-89f3-150954392672 CLINVAR:1996223 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen be0d5ad8-beed-4b34-ae1c-69d6876c92ca CLINVAR:1996223 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c69ac040-f75e-4b88-bc41-0ecc6614e3b8 CLINVAR:2177591 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 25217759-ad86-4e51-9004-fbcb74488087 CLINVAR:2177591 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 85658664-666c-47c6-9ba9-f463ceae15d9 CLINVAR:1703793 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4a53ed01-b1ab-42fb-b811-717b5689cab1 CLINVAR:1703793 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c73ba018-87ac-448d-b7c0-cb0ddfcb5361 CLINVAR:1349747 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 715c46c0-2b52-40ef-b225-95fe0bb2cc27 CLINVAR:1349747 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 34bd487e-1860-420c-af37-de2bf9376a1b CLINVAR:812913 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 647bb2fd-a4ab-46a9-adf8-8025958b3a20 CLINVAR:812913 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen afcf90f7-d269-474d-83b2-c1be4ef8f2c0 CLINVAR:1067688 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0cafb457-664f-46d2-a2d8-da542740d6cd CLINVAR:1067688 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aa044071-8e39-4f96-89d9-3e8063dfca89 CLINVAR:627152 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9fcc6b64-ced9-4fe0-92ca-758ff7e51404 CLINVAR:627152 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7262e816-7b25-4153-8de6-0e4184491c77 CLINVAR:1074352 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 670b0acb-0325-482d-840b-42c538d1c9e8 CLINVAR:1074352 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6407a169-4ec1-4ffd-97bd-ea92c8327d1f CLINVAR:1013200 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ac0606e0-9ab7-46e3-a3a0-bc6bd77858f6 CLINVAR:1013200 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 341fdc72-b977-433a-97dc-0a8671817eed CLINVAR:640550 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 153bce53-0d0d-4f0b-b9f6-7f7c048c67a2 CLINVAR:640550 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen db5dc949-33cf-4f7d-8779-83e1581f4453 CLINVAR:189402 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 97b766ac-492d-44f6-b468-fcb5af3f30cc CLINVAR:189402 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4b055a8f-3ec3-4395-8794-b0dbac8ecee8 CLINVAR:373446 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8e0f4195-4bd3-4e4c-ae8e-3a6fd413541a CLINVAR:373446 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5c701e21-92ce-42db-8604-67fc730e9158 CAID:CA367402681 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1a6de3e1-fa4f-44f3-a2e4-37fae09e591e CAID:CA367402681 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9595205d-3771-4ccd-a3d3-f35fd72dfbfe CLINVAR:585918 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 715f0679-618b-4c7c-9e7d-5f61a5701872 CLINVAR:585918 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 07951e1c-1524-4bf2-a9ae-378af945486d CAID:CA1703634895 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1745cab4-4d1f-4102-8601-c9f930c20e00 CAID:CA1703634895 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 515a9134-9705-4830-954b-5372bbe8f509 CAID:CA16621927 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 694a0bd0-8708-4472-8c64-b2b8582ac920 CAID:CA16621927 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen daacea50-38ff-4494-8e26-31444003fa90 CLINVAR:280031 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6a69bafb-f011-4c44-ba53-41dadd727d9e CLINVAR:280031 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a774c1b3-b363-4cae-a83c-54ce1e2ce66b CLINVAR:2073656 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 98d61638-f2a1-4b62-baff-04beeea9794c CLINVAR:2073656 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 53bbe9eb-cff5-49a4-9d5e-7cbd0d73001a CLINVAR:450754 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f49d2a39-abe0-422d-943d-2fec6ea64727 CLINVAR:450754 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 984ff73a-069b-4214-860c-e83ae841bc05 CLINVAR:890134 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 72e38879-4546-4c1c-9831-6e604eea734e CLINVAR:890134 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 130cb91c-81c2-403f-8fe3-04f949311b4a CLINVAR:1684324 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0d737c9a-bb4f-4439-a94f-c26c8482a725 CLINVAR:1684324 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0f3ce640-d88f-4b7f-a51a-8a1ed4863858 CLINVAR:1048589 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 924fd690-6937-4d39-ac04-8b7af59b0f26 CLINVAR:1048589 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ff4d60b9-5dca-4857-bab0-47d481da7fe1 CLINVAR:1348299 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 92cd9a0f-3efe-48c0-b254-132ca49216c5 CLINVAR:1348299 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3ac27fea-f375-42bf-9665-4e034cf03f52 CLINVAR:456402 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 018f7116-7084-4adb-a22a-ccd75d4bd59e CLINVAR:456402 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cca623bf-f548-4079-9302-ceced7ea31fc CLINVAR:593593 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d0663ada-9589-491b-a81a-e6f529782a93 CLINVAR:593593 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4bb7fedc-c10e-4533-a761-cef75c1bc4d7 CLINVAR:664582 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 267564cd-0e1d-4254-9b8b-c8a476ea8b43 CLINVAR:664582 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4484d46d-aa28-48c2-ab80-ee44770108af CLINVAR:285589 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 72fc7898-f818-48bb-b243-6048ac3a1ebf CLINVAR:285589 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ca984bde-5244-4c7f-bf93-9045bad9e401 CLINVAR:510585 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 14774b01-1f07-4431-aadf-18021710c63d CLINVAR:510585 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8d8b4131-9f3a-4a2e-9c22-8bb1cddd73fa CLINVAR:447518 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 14737588-5fa9-43f6-aef8-924c6b0c5220 CLINVAR:447518 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1e06d046-03cf-4e4b-9dd6-81d70c0dea4c CLINVAR:972785 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2ff6f0c1-1849-4cef-ac33-2c0c7f39ddd4 CLINVAR:972785 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5571b8ec-e2e2-4218-a3f9-fce9c055f18d CLINVAR:586019 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 93da4ab4-7a23-4d8c-a02b-46ba7e3c9ca1 CLINVAR:586019 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen be30081c-9bb4-4a71-99d4-ee83893ca624 CLINVAR:133249 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen eff7b236-e45e-4285-947e-52ed6186286f CLINVAR:133249 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 30ae03ee-2fd5-4688-966d-787ba58ddf45 CLINVAR:102688 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6d5ee286-0440-4588-af01-d990110bbc1a CLINVAR:102688 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ea46abdf-9d05-4d22-a542-bd21b8676bee CLINVAR:188933 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 92d958c0-d9e9-4278-8d2d-bc7049b143f5 CLINVAR:188933 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen df4afe66-6ce0-4e28-be93-40af263338b8 CAID:CA16020772 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b4b65fce-74c0-4f51-a463-a6ae7f647ce8 CAID:CA16020772 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dfe17b59-8619-4943-85e3-8799f67586b4 CLINVAR:102639 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2af089ef-0ac9-4027-963d-dbe4d5140d42 CLINVAR:102639 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ae20ea2d-f811-4b42-ad2b-3f4f7ea98002 CAID:CA16020833 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e4a8b475-d2bf-44bf-b21e-b0d1651e6a7f CAID:CA16020833 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 71a65dd0-3d93-47eb-93ae-e6ad9a036ff7 CAID:CA10602335 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8903b845-09da-46d2-9a7d-262cbd4bff52 CAID:CA10602335 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3bdd2a51-71d2-4c7d-8d08-ae4d2c91edbf CLINVAR:1458264 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b61fc36f-6b59-4146-be9f-3a9381640abc CLINVAR:1458264 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9edb0b84-9c53-4ed0-a589-25b61cb7e131 CLINVAR:102899 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9be0d990-6ecd-48ef-ad59-ba18dd2daef8 CLINVAR:102899 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 87c5ac53-00bb-4907-abba-8d44242ae704 CLINVAR:102896 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3567d3ea-5f0f-4e94-a551-50f56085fcca CLINVAR:102896 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4ed8cc36-226c-456f-8cf3-a04f644c64b3 CLINVAR:102586 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3ecc3529-f5ea-42aa-b898-a3211e869799 CLINVAR:102586 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 66b9a61a-1f7d-4f7d-a108-eba93c3029d9 CLINVAR:102907 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4526ffa4-0640-4f93-8ae1-3ac39d771255 CLINVAR:102907 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 31441bb4-f863-4cd8-b691-eb76c17e03c3 CLINVAR:102904 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 25edaaa1-ee4e-464b-a649-99afe8679dcd CLINVAR:102904 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 39935c71-17fc-461b-8d2a-b533596d31b6 CLINVAR:102912 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e5256b86-06df-45a5-9000-02ea13da9696 CLINVAR:102912 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 821dc047-27d8-4888-a7f4-70510a7ace0b CLINVAR:623 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b6754b32-8e15-4dac-970b-2d1c16f42447 CLINVAR:623 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ed323e9c-9d38-48fa-acc6-4baa8ec08b42 CLINVAR:439226 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 215f7c37-7fd4-4c92-9ba1-3adc2b83a18f CLINVAR:439226 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2df00e11-8029-4d8e-967d-c2530c3c569b CLINVAR:689636 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3e0c8049-da8a-43e8-bef0-99a9ce815350 CLINVAR:689636 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9e81dfa7-f2a0-4dd5-853f-ff25b39c2028 CAID:CA367396714 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 95cd913b-e58b-4bdc-ab08-ad21921a5921 CAID:CA367396714 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 17c7cc4e-52df-4a39-a16b-0a0f0b52f723 CAID:CA367403522 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2110b50a-65f8-450c-a1da-00838a52b693 CAID:CA367403522 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 47034c6c-8a83-4bf8-b0d0-9abe080ff1e4 CLINVAR:420070 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7ec19ae6-8864-4127-8c82-a4b316a0a05f CLINVAR:420070 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6947c65b-30d0-47c0-9ef2-d02f5972fdb6 CLINVAR:129142 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 955027a3-8217-4384-a7ca-9d54562bde56 CLINVAR:129142 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8e28a34f-a11a-4add-a358-f1f9cc55883a CLINVAR:439709 biolink:genetically_associated_with MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ddb49e0d-473f-4cbd-9a60-55c647639c68 CLINVAR:439709 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9aa3cf88-9109-4ca7-bac9-81a6e0f842f0 CLINVAR:1083041 biolink:genetically_associated_with MONDO:0100040 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 41923ccf-5a37-4bcf-9f57-23bb8350230e CLINVAR:1083041 biolink:is_sequence_variant_of HGNC:3811 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 25d5484c-b3be-4a30-93b6-e815afdd7643 CLINVAR:1125979 biolink:genetically_associated_with MONDO:0100040 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fdedaa7c-8753-45f6-9cbd-4793c242bb28 CLINVAR:1125979 biolink:is_sequence_variant_of HGNC:3811 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 452a7c69-628a-4b7c-82e3-ec48f91139ab CLINVAR:224133 biolink:genetically_associated_with MONDO:0012589 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a8898959-e350-477d-a778-104389ac0bb8 CLINVAR:224133 biolink:is_sequence_variant_of HGNC:11634 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1638c451-48b5-432e-90ea-c2b71c91f9cb CLINVAR:502478 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 843ca50e-23af-426c-a45c-f35ed6d77e69 CLINVAR:502478 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 080218a2-8123-422a-ae12-24aa9a1aaa6a CLINVAR:932847 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2953a637-6514-4131-8eb7-78d9a40a16d3 CLINVAR:932847 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0e2d0154-214f-42ef-bb00-a3f073282735 CAID:CA415087450 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c098ed24-383a-4f49-a18d-1698d4d03fc1 CAID:CA415087450 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e7203f44-d46d-4aae-9877-685c1f746032 CLINVAR:203574 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 296f3080-5a9f-450f-801e-9e722d247efb CLINVAR:203574 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7674c370-58ab-4da7-9274-bd5ce86ea0a8 CLINVAR:11698 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen dba67df4-8a28-4273-adec-28ce2da2dbce CLINVAR:11698 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 93058ed6-4563-42af-996e-b16a974dfeaa CLINVAR:429893 biolink:genetically_associated_with MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 25c689ca-83bd-47c0-b8e1-c3a530fee218 CLINVAR:429893 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen da310232-21f8-459c-bcb4-eb82711fd639 CLINVAR:421767 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen caf80756-8a07-45fa-ac34-cf1bf20323f1 CLINVAR:421767 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dc052d23-397e-478f-a421-4c3ef5b0ca34 CLINVAR:1319163 biolink:genetically_associated_with MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 87aec8e2-47fe-4e24-8db5-e97ea6ef4ce7 CLINVAR:1319163 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1e7a94e6-a86a-4fe9-bb51-4a6c24256357 CLINVAR:328352 biolink:causes MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a3dc1738-09ad-42e8-875e-14f538127442 CLINVAR:328352 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7f02fb3c-d527-423e-a521-ec1b33ef7241 CLINVAR:16466 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5736e2fe-5f10-4b55-a74b-d8f97d48be9d CLINVAR:16466 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 70398610-e7ed-46bc-845d-5c4eba639b91 CLINVAR:155951 biolink:causes MONDO:0007113 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 22c82674-2e72-41f2-bba0-958b9ff5af95 CLINVAR:155951 biolink:is_sequence_variant_of HGNC:12496 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dfc1de99-f03e-4223-8750-b78974490cc7 CAID:CA2579985999 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 766daa46-ddfb-470e-8f0c-74d8b637e9df CAID:CA2579985999 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7919e16d-8130-4a34-bdf3-df8e5dcc0897 CLINVAR:956400 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 814f0363-975a-4f24-a4e0-14ea25f3aeb7 CLINVAR:956400 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 31c1ad5a-8758-468e-b91e-4543cda3808a CLINVAR:2412845 biolink:causes MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 164befe1-e51d-48cb-ac87-ae6554e62659 CLINVAR:2412845 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3af8e880-1337-4b81-add3-945f439dbbd7 CLINVAR:65692 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b2e94cdb-e146-44a3-b232-d465058d4165 CLINVAR:65692 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b248fbc3-251c-4865-aa75-6355ca34d21e CLINVAR:932737 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen bb385da8-bc24-48ff-ae62-c49264c3b6d4 CLINVAR:932737 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5e6bccfe-7e8b-44cd-896b-a097d85ddfb2 CLINVAR:636961 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 037fd5be-cb8f-4fa9-8c29-e2c3646aa988 CLINVAR:636961 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 073b0b40-7474-48d8-8fa7-44b34d400a1a CLINVAR:867228 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 010d207a-74b3-438e-8e95-abad9ebab712 CLINVAR:867228 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f676c3fe-d0e9-4e50-8909-2234a1ebdf52 CLINVAR:858462 biolink:causes MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen cd6e0791-e9b1-408a-99f8-8b08f10a1ebd CLINVAR:858462 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0329b50b-e85d-48af-bce9-0adb5263002e CLINVAR:572229 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2643504b-b156-4813-a7cc-de4084a807b8 CLINVAR:572229 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3b54db33-c720-4e3e-9643-a8c75635ea4e CLINVAR:549451 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 34a882a1-dd09-4cc1-96ea-744d3aaf28e6 CLINVAR:549451 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f9e16f9c-53cb-4cf9-a475-ece2784835eb CAID:CA397723375 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c91950b3-be12-4b1b-aa1d-da90347aa19e CAID:CA397723375 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c1ab9829-88f6-4068-8298-9e5e454f1876 CAID:CA2580610966 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen fca59ad6-70d7-4408-969a-4d87dafaaa8e CAID:CA2580610966 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5b1c5f18-3b5b-4263-bfcd-7809419456b4 CAID:CA415090844 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 02a60cb9-e993-4809-96d5-6a90ef8afccd CAID:CA415090844 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 95423545-4d54-4f20-96a7-b168c1877fa4 CLINVAR:549178 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7e587594-2a5b-43e8-861e-590c42773f6c CLINVAR:549178 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5446e078-1e98-437d-9af5-b632adeefd25 CLINVAR:2138184 biolink:causes MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen aef3556a-2d3c-4141-844f-7756e16bdc43 CLINVAR:2138184 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ced278d4-22c2-41ab-8836-ceace53ff9a7 CLINVAR:1387019 biolink:associated_with_increased_likelihood_of MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c9f3e10e-fc59-4799-82f5-d9fd10c59444 CLINVAR:1387019 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d655a955-793c-4408-bbd2-e6f9362ae4bd CLINVAR:495563 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 51810a91-ee49-4e4e-bb59-115dcca685fd CLINVAR:495563 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c1a74107-853d-41ce-9f2b-bc3526de66b2 CLINVAR:477251 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1c481f88-eee4-4f95-8321-d69de0db1490 CLINVAR:477251 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0b9fe2fc-1486-4030-857a-750ec1323b19 CLINVAR:2419155 biolink:causes MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 160d6bea-31ce-4253-a3ac-530463f7e456 CLINVAR:2419155 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3a3586ad-e96d-4bbc-8ee1-786f4f3662d3 CLINVAR:374123 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 89a0b7f7-e03e-41eb-9505-264421aa31c9 CLINVAR:374123 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eb7e0773-7cf2-4944-80a9-2744c76d01fd CAID:CA415084391 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a3f3bae8-fce8-40ec-b587-6a2f040524a1 CAID:CA415084391 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b73690e6-c5ee-4221-96a6-e4a72dc576b9 CLINVAR:420991 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5766645b-49ba-4ff5-8509-e9e63cd4adad CLINVAR:420991 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2575f316-9e89-4869-a659-201d51555f95 CAID:CA397723872 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 852b1cf3-3660-4d1e-824a-6486d2a6a307 CAID:CA397723872 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0165c334-e9bc-4bd4-98d3-639a733824a1 CLINVAR:11696 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 113fd037-ab79-4d17-b318-e65048847c29 CLINVAR:11696 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6f33b638-c8d5-4384-9b77-a1155d345cc7 CLINVAR:516841 biolink:genetically_associated_with MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a8c0e185-8281-4652-bd5d-e2cf1b4c4394 CLINVAR:516841 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aae9cb18-4531-47ce-946b-ba4f6860855e CLINVAR:549024 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ec28af2f-3cf1-4639-aced-9170983fedc5 CLINVAR:549024 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3d82fec3-f1e1-4fc5-b3de-5e0281ef72d7 CLINVAR:804917 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 526da1b9-8aa7-4df7-93b0-ab55915afe93 CLINVAR:804917 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ac323e36-0e6d-4fc7-b92e-37fef0f2b45a CLINVAR:695019 biolink:causes MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c8d6ce9a-33a9-436c-8513-b36d5c5401a6 CLINVAR:695019 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f5fabeaa-7dce-4ed0-90a2-be53d6594faf CLINVAR:549476 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7e0b1f11-fe38-4dbf-be9e-71bf15ef3aa2 CLINVAR:549476 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4167ab75-0169-45d9-8d0d-1aac534466c5 CLINVAR:661301 biolink:causes MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e35a16ea-7ae4-40b4-a5e2-f203c28805e1 CLINVAR:661301 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d08bbc4f-6dd1-40c4-95c6-e7499e3fbadb CLINVAR:163461 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2066ec5c-47cd-44cf-a48d-1366260b7700 CLINVAR:163461 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 03047e82-5232-4bca-bfe1-a06d794ea5e1 CAID:CA415090882 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 84a3f21e-f072-432a-87ee-22d536e1a5ac CAID:CA415090882 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 154a97da-317f-4535-be91-45060a8c694d CAID:CA415086484 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 56e8be81-dda2-4ca0-a8d1-c9fbdb35c72b CAID:CA415086484 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cb03358a-8b16-4268-acae-3d566da0a8eb CLINVAR:254305 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen bbbfadf6-bd57-418b-ba7a-267bc8864dd4 CLINVAR:254305 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c79c9018-9830-49ef-961c-d8c0173bbf4a CLINVAR:549013 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1fb98e76-139b-4b49-9f68-11e20fc6bebe CLINVAR:549013 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8a642d40-0768-4688-ba9c-fdefe38ac51d CLINVAR:548999 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ec9b9f61-ae0e-4c63-8a69-69f74e2f3412 CLINVAR:548999 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 762dcb2e-ef95-4cdc-944d-361e97e16ed4 CAID:CA415088445 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e3c345da-0c72-4a39-b5e5-03ee9c299c2b CAID:CA415088445 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 21548563-f51d-4cf0-9fdc-aff9bc673db1 CAID:CA2580610965 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 304a684f-5354-47b6-9242-601daeb1fb1f CAID:CA2580610965 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f3b36ef8-ff0f-44a0-9475-edbdd900dd96 CAID:CA8338094 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0c133745-3857-4aef-bfd1-a90bce315d85 CAID:CA8338094 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8ad66f3d-ca5d-4912-b574-9e2d2dbed024 CLINVAR:200193 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 04810ba5-97b0-46bc-9c68-39af49adb894 CLINVAR:200193 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3edc2834-22c8-4aa5-9bda-38655b606e84 CLINVAR:932846 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b0b37f97-60dd-44e0-ab2f-56fea8e05e07 CLINVAR:932846 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4b4cd401-4ec3-4fbe-adc3-64b6c9915d5c CLINVAR:636640 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e0526637-b3a4-4960-9842-b2ef1a0ec7bb CLINVAR:636640 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9ca97fd8-f5df-494b-ad3e-5d92652d483d CLINVAR:429431 biolink:genetically_associated_with MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d04ba643-0a27-43da-8631-742a7c63bee5 CLINVAR:429431 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 28337052-e9a3-4ab0-b95f-98f47e41dbf6 CLINVAR:178034 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen dcf5c8d2-1fdf-4466-acc2-b3932a7872a4 CLINVAR:178034 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 53f47641-a79a-4908-a162-0479f096d89f CLINVAR:544257 biolink:causes MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6d4361f2-bc74-43b0-8587-28a2caffd3a0 CLINVAR:544257 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 50e6f756-8e95-4937-b396-b21cf53b2fd8 CLINVAR:549229 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2a06b062-52a5-445b-87ca-63d4191c8599 CLINVAR:549229 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3c80afdc-fddb-4ae6-9da6-49e64ffb931b CLINVAR:2683728 biolink:associated_with_increased_likelihood_of MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0600cad3-0bad-43ba-a5e1-3c688a19676b CLINVAR:2683728 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3cd83070-cac5-4e3c-a836-47fd6356beac CLINVAR:554546 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 09835888-48c5-4815-ae2a-5db85a8b5f38 CLINVAR:554546 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c018742a-3186-4991-9d72-a2d3faee23c2 CAID:CA915940477 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9e7bd48e-d01e-4d31-8251-f4e212e11c37 CAID:CA915940477 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 897f8f77-a6a7-4048-af94-fbcb9652dc53 CLINVAR:588631 biolink:genetically_associated_with MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 53e8ee0c-02cc-4c77-95a0-570b929c2dc5 CLINVAR:588631 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5919da6e-aaa1-441c-8b77-b2883134171d CLINVAR:646976 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 377bb469-516a-4d07-8dc4-db67492461d2 CLINVAR:646976 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 515b5925-ba8d-45ff-8ee8-56c48759f496 CLINVAR:932789 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 14f4ad06-e087-4487-863b-31026a816790 CLINVAR:932789 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 927b7727-fb53-4335-a919-148ef21f4c90 CLINVAR:522433 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 33b2b266-f1d4-463f-8487-d14207b5ac4f CLINVAR:522433 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ada22f58-b3a9-4a50-9bc3-f26b638f8a08 CAID:CA402996840 biolink:causes MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 84b028fa-60be-44f2-9ab7-96c0fc986eba CAID:CA402996840 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 14e26d2c-82c6-4b18-9fa0-0e8cda4abb30 CLINVAR:549001 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f26a0d61-f7d7-4252-ab53-e912b70f73a5 CLINVAR:549001 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 82a9b168-5cb2-42a7-9469-5f39f9b96a98 CLINVAR:1703957 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0d0f1acd-35c9-401b-8c02-a75ab30e9e65 CLINVAR:1703957 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6fd361fc-8b72-4500-86c1-58b2105f86e7 CLINVAR:477250 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c82d8216-758e-4fe9-be25-57f5ad4adeb5 CLINVAR:477250 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6a984936-6b1b-46b9-b439-4005f5b6652d CLINVAR:1143525 biolink:genetically_associated_with MONDO:0010278 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3ffb1848-218c-461e-9ca3-aded9f96cc71 CLINVAR:1143525 biolink:is_sequence_variant_of HGNC:11079 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b5456822-df43-4222-acb5-563b6b4430c6 CLINVAR:406288 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 23652893-76f2-4fe7-ae8f-cf15c4d260c5 CLINVAR:406288 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 885b7926-b35c-4704-8e85-911795791b62 CLINVAR:818179 biolink:causes MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3fdea4ea-3623-4f92-b284-38cf4680a0d8 CLINVAR:818179 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 02d5d6e6-9b98-4fb9-b459-412b8ea38bf2 CLINVAR:11700 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a1211241-0e50-411c-a0a2-79a53d5b0453 CLINVAR:11700 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 330f57ce-771d-419e-beb4-16fa301bb01c CLINVAR:1003911 biolink:associated_with_increased_likelihood_of MONDO:0012589 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a5ab762e-3b26-4a2b-be6d-68da068d2040 CLINVAR:1003911 biolink:is_sequence_variant_of HGNC:11634 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 445a5522-8540-4ce2-b2a3-865891223ac7 CAID:CA415087684 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ec713be3-9fa5-4cc6-b36a-5b38ff0f8b9a CAID:CA415087684 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 92fdca70-983d-4181-a6ef-e871f9672385 CLINVAR:892468 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen dbb38a13-6aea-4bfd-9848-ca76333a487c CLINVAR:892468 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 56fa0868-8ae4-4d36-aea0-3eb844ef5b0b CLINVAR:706747 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 91e5aa7f-6c15-48fd-8471-92fc016532aa CLINVAR:706747 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3c0bafda-fcb3-40ff-a943-d94e06c431b1 CLINVAR:2421360 biolink:genetically_associated_with MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ba198339-cb59-41a1-a101-1243baa375ae CLINVAR:2421360 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5c2d22fe-c2a2-4a7d-afa2-800ebce5b38b CLINVAR:2683726 biolink:genetically_associated_with MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2ba1136f-4b79-44dd-a004-e2b1464be6e3 CLINVAR:2683726 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 26991edf-fab8-4898-9a4e-7c843850b787 CLINVAR:180355 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen bda60dc9-0eaa-4b9e-9747-8ffd6f9c6319 CLINVAR:180355 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e6ec36ca-2afd-4b88-a9ef-65baf2e8df38 CLINVAR:1325422 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8d9b71a9-663a-45cd-b412-7788c8374711 CLINVAR:1325422 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 973ccc77-4f44-4e8b-88be-5a82fe771d7a CLINVAR:495609 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e6cad209-2704-4349-8644-51f59f2df91d CLINVAR:495609 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 33e77a1c-a024-4a95-901c-16eff29f19bf CLINVAR:155793 biolink:genetically_associated_with MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 70f2e21f-3953-44f4-9cb9-254c617b47a5 CLINVAR:155793 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8ee10d91-0f6d-4445-9b0a-2492b0d45c2e CLINVAR:222604 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ca3fe313-ac0f-4c74-91da-62ef1dc55d29 CLINVAR:222604 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 52a372b4-a442-4106-b00d-58c9c1b7fd6c CLINVAR:449440 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3e61c34a-0696-4ee0-b2c3-3033043a21e4 CLINVAR:449440 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7d5850f6-c7a6-4307-a187-cfbf2ec841da CLINVAR:626882 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 840af7f2-d1ae-4e56-ad00-e3215cf2ca0a CLINVAR:626882 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f2b59894-983f-4566-9095-ea71fa820f5e CLINVAR:495599 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d89eabd3-d54c-4660-ae23-c6d7d65a1436 CLINVAR:495599 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 81b7a37b-a31e-46c2-a1d0-db014727317b CLINVAR:495594 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 981e89b3-5320-48c5-8e43-f06e68027503 CLINVAR:495594 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 67d31879-54d5-45d8-aa8c-7635242b4243 CLINVAR:549169 biolink:genetically_associated_with MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 77bd432f-d94f-4dd1-88f4-00b80e131007 CLINVAR:549169 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cdeb0ac5-87f3-4178-b2cd-55a2e73c0ec7 CLINVAR:263660 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5493344d-cbdd-41db-8336-06872d60798e CLINVAR:263660 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 03f5d50a-09db-4477-ab28-d0b8a7003764 CLINVAR:928903 biolink:genetically_associated_with MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 40903f29-3664-4878-af39-d1e638255fde CLINVAR:928903 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c6a11443-e64f-4a40-8363-1f3deadfe3a1 CLINVAR:222600 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 87a4759c-01fc-475d-babf-a7040d3a188c CLINVAR:222600 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2a50cb33-0da4-4d3d-bce9-79d5b5385285 CLINVAR:549150 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f90f39e1-e067-42b8-adcb-9bb66096aef4 CLINVAR:549150 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c9a16247-5bd1-40ee-9957-9f2abd0a07a3 CLINVAR:915814 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7806323c-ea00-43dc-aeaa-13c67e7c427c CLINVAR:915814 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 35027ed8-7220-4886-b2e5-3d148ce59eb9 CLINVAR:264089 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a8cd7507-2892-43d6-9f74-ef2f16aa8834 CLINVAR:264089 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f5e5d4c4-05ab-4268-b1c6-f48a52da1ea1 CLINVAR:549070 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7a12e34d-c812-4c00-b344-03a7bbb82a38 CLINVAR:549070 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8a9ffb72-ea53-4920-9753-2468048bd71c CLINVAR:519758 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 606528f8-1036-4477-b1fd-c8e6d6433370 CLINVAR:519758 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b0eab7f4-f8c9-4c5b-8a7e-e31ead408e22 CLINVAR:98872 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ab0bbb9e-9db2-47dc-9289-70c59751c496 CLINVAR:98872 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6693f9e0-6313-4485-b2e0-d5c9bdef7919 CLINVAR:13114 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen befaaba9-ae56-480d-bb17-b1d296576da6 CLINVAR:13114 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5a516898-2d99-4f44-8b34-44a5cd3e244f CLINVAR:98880 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 36302f02-01fb-4a48-b45f-66c95fe599b8 CLINVAR:98880 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d8e49337-5a33-4819-bded-a3a19443cd09 CLINVAR:660359 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9af8ba72-037d-4bda-b7ae-dd0529477b19 CLINVAR:660359 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d9308e70-d6f6-4ea8-897c-f677286a8043 CLINVAR:98899 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 63e5ff30-e997-4e1a-a30e-4110eb67b764 CLINVAR:98899 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 60c9f1e2-744c-46d5-b03c-0b065eb14846 CLINVAR:98825 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4f0ade73-6cc9-460b-82e0-fc67571f5083 CLINVAR:98825 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 330720a8-2775-4e3b-afad-12d8804c1092 CLINVAR:1067786 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9095e3dd-4e06-45cc-86cd-8b794393fa7d CLINVAR:1067786 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2fa5afcf-1a0a-4660-87f9-01375cdb3a08 CLINVAR:13117 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen baca237d-2d1a-4a9c-a6ab-9c638d2feef2 CLINVAR:13117 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e77053b8-22be-480f-8b2f-a682a8b1e1da CLINVAR:1070755 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 57e8f416-0051-4c02-b541-f8879cc5bf4c CLINVAR:1070755 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 898628a3-cc13-40c8-a65a-661faec85b8d CLINVAR:1380036 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c7318a12-5dc2-4bd8-8603-f4111a2bce46 CLINVAR:1380036 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f5345441-ad43-4b71-b924-ffd89b8a134d CLINVAR:547296 biolink:genetically_associated_with MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2e26005e-744f-46d4-950a-615af0298668 CLINVAR:547296 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4fc12689-4b13-41c8-bf1c-37f80d7ba261 CLINVAR:555394 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen af6d87e4-796e-4d22-a7d1-d193491aadee CLINVAR:555394 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3d525121-56fc-44da-b8eb-cd4329e69ae0 CLINVAR:1023481 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5c16c043-afe2-45ec-b0bf-9df3c51cbb7b CLINVAR:1023481 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8d188eec-4467-41ce-a30f-9b699e5bb89f CLINVAR:2683727 biolink:associated_with_increased_likelihood_of MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a60ef01e-1ad3-4889-8c2b-b15a7c05931a CLINVAR:2683727 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 80c7c6af-fe7a-4eb9-8da3-fb44c688c20d CLINVAR:854099 biolink:causes MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5034a569-cd3e-45ad-96d2-bbf64e30c6da CLINVAR:854099 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eca86656-1378-4177-a2a0-8ccb8cbde02b CAID:CA415087966 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f6f05b1e-9de7-45d2-ae2e-048481fcbd44 CAID:CA415087966 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 07bb8a03-0a63-4acc-8f4f-a6f5122f2f54 CAID:CA415090808 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen fe738558-a079-4685-b3f0-ba0dddc70538 CAID:CA415090808 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a8fa52b4-2e95-469e-85e7-89ac97c7ac94 CAID:CA2580610964 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 84637f0a-3c41-4ef9-956d-0419dcf982a0 CAID:CA2580610964 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 024edb20-1fa9-45eb-9fae-768325045142 CLINVAR:618516 biolink:genetically_associated_with MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e38aa9fe-7e82-4bdb-b59e-39337d5fab92 CLINVAR:618516 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e039e04b-aa0b-4555-8be0-b82a192df265 CLINVAR:338506 biolink:genetically_associated_with MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9f4e638b-d771-4e77-a980-2ff7a63c7c97 CLINVAR:338506 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a10fcbe0-ffad-4591-a00b-d4df24986be2 CLINVAR:1966 biolink:associated_with_increased_likelihood_of MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3bd31b95-bf26-4238-9f7b-961b25a90db7 CLINVAR:1966 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0f883fb7-3d07-46b2-a4e5-9a74aed4250b CLINVAR:968664 biolink:genetically_associated_with MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4652fe6d-02b1-448f-a478-214e70fe2047 CLINVAR:968664 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen af96f8bf-1845-4645-9d25-014460d94d4a CLINVAR:419664 biolink:associated_with_increased_likelihood_of MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9071ef28-4af2-4cc1-9f4e-7fd2804892f2 CLINVAR:419664 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b3636168-1df0-4891-bc21-60e7668b3dd2 CLINVAR:418256 biolink:genetically_associated_with MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a54d59f8-4458-4882-8246-246c6ae5e196 CLINVAR:418256 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9f7a27f4-8c06-400a-a368-1332b53b893b CLINVAR:804024 biolink:genetically_associated_with MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6fde3c03-8734-4f4f-827d-9585a61599ae CLINVAR:804024 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4dba4b24-f777-44c5-a5af-967d7e14e2ca CLINVAR:505549 biolink:causes MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 373c868e-3ab6-4c75-a469-805b23a1711f CLINVAR:505549 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 36d46eb1-5ae1-4a49-b19c-4e71dd46ddef CLINVAR:1979 biolink:genetically_associated_with MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9e22b710-c2e7-4c8d-867d-7591d6e696e2 CLINVAR:1979 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 98c149cc-89b5-4dce-909e-eb6de198fbc4 CLINVAR:68264 biolink:associated_with_increased_likelihood_of MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7399b54b-85c0-4c53-89a0-323c0cde53fe CLINVAR:68264 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6a15fcf1-7c2b-4779-9b49-a0358935392a CLINVAR:1963 biolink:genetically_associated_with MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 89a05655-4566-4b3f-b5f2-fc16461880f4 CLINVAR:1963 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ea2270ff-64cb-430a-bfa4-0f691e69cb32 CLINVAR:468281 biolink:associated_with_increased_likelihood_of MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 10183506-f043-41b0-8768-8a1a5f341197 CLINVAR:468281 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cec6ffd1-08ee-4ed9-9af1-3241db1ee9dc CLINVAR:1075328 biolink:associated_with_increased_likelihood_of MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4a896741-bfb2-4215-ba7f-7e5589a2ce77 CLINVAR:1075328 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0a7ba7c8-bc09-418b-9fcc-58ae951ef43c CLINVAR:1957 biolink:causes MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6ad3a927-5603-4096-82b9-36b71d645673 CLINVAR:1957 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 511f63f5-b4dd-4a8f-9f32-5d1ad6b77fed CLINVAR:550821 biolink:causes MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5bb8086a-fd33-435f-9aad-e9cda89db93b CLINVAR:550821 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c06c726d-d497-40d6-b361-f035d2dbd8d6 CLINVAR:1473380 biolink:associated_with_increased_likelihood_of MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 481c8a00-1844-4d71-a5d3-272e6684a2bf CLINVAR:1473380 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2cd7b5ec-3d74-486c-ad26-160ca0b3f2a0 CLINVAR:1969 biolink:associated_with_increased_likelihood_of MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 120c87d0-8796-4fd2-9aa0-d8b387a98fd4 CLINVAR:1969 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2178fb8b-a673-4d93-b09f-edde3a404cd5 CLINVAR:254216 biolink:associated_with_increased_likelihood_of MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5af9aa66-f68e-4a60-baa7-d3a7c6e8aab1 CLINVAR:254216 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e9029763-560e-4ba2-b47f-99caf3fa7f22 CLINVAR:986350 biolink:associated_with_increased_likelihood_of MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 613aad66-8599-43c5-897f-20864ca8223b CLINVAR:986350 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2e65bd98-1f32-40c0-a48b-2c9e82eee9aa CLINVAR:1713265 biolink:associated_with_increased_likelihood_of MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8fbbb5df-a605-4e42-b95c-ee7b2dd6fe82 CLINVAR:1713265 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0487b808-8e80-4446-82cc-c4481433d138 CLINVAR:1069380 biolink:associated_with_increased_likelihood_of MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 50683cf7-9dcb-4cb8-8801-78ad8cc1c6ef CLINVAR:1069380 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 04b9622f-ccf3-4c8b-a3ab-247c830c4329 CLINVAR:254217 biolink:causes MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8d708c47-34c8-4b6c-bfa5-61e10a9996aa CLINVAR:254217 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4ecc5f7d-eb2f-4a1a-8dc3-950da8169703 CLINVAR:1679474 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3eb01f1a-6b5f-44c0-b1ba-696a622d7011 CLINVAR:1679474 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f9e67c0a-65f8-4641-9080-b287f7abed27 CLINVAR:1696158 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a2ed1ea8-c7a4-4e68-9fe0-4e1f4cc01129 CLINVAR:1696158 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 67001eae-56c9-4009-b3a0-00d5a94d33ba CLINVAR:804345 biolink:associated_with_increased_likelihood_of MONDO:0012163 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 98ab209d-c7a7-4d36-a8ee-792743240661 CLINVAR:804345 biolink:is_sequence_variant_of HGNC:6024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 934f38b6-5f75-4516-834a-c1b55432aac5 CLINVAR:353259 biolink:causes MONDO:0012163 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 841be58e-4a57-4ae3-a80b-71788eb8a3be CLINVAR:353259 biolink:is_sequence_variant_of HGNC:6024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 74842133-4575-413c-ab09-f586c4a6dcbb CLINVAR:36392 biolink:causes MONDO:0012163 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 345fd33a-04bc-48e7-bf0e-f3d4a6029ba1 CLINVAR:36392 biolink:is_sequence_variant_of HGNC:6024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b0df57b4-1722-4bf3-a73e-292c6d48706b CLINVAR:224841 biolink:causes MONDO:0012163 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c6c30cbf-3622-479a-abd7-45a789d6b9d6 CLINVAR:224841 biolink:is_sequence_variant_of HGNC:6024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4db37671-6be7-4eef-911a-3bf50c23a492 CLINVAR:578174 biolink:associated_with_increased_likelihood_of MONDO:0012163 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4678f5cc-3856-44f0-87b8-e1496eab80ff CLINVAR:578174 biolink:is_sequence_variant_of HGNC:6024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6ccd971e-6559-46dc-ab10-82d8bd06b59e CLINVAR:2187538 biolink:genetically_associated_with MONDO:0012163 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5c6965cf-8de6-493d-8a71-8ec7e89eb024 CLINVAR:2187538 biolink:is_sequence_variant_of HGNC:6024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c7f46ea3-04a5-4f0c-a6b2-11825f20dcf5 CLINVAR:14841 biolink:causes MONDO:0012163 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 29b78746-0b86-49c0-83f5-553f2b1306e4 CLINVAR:14841 biolink:is_sequence_variant_of HGNC:6024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d2f4c481-8a05-405a-991d-05693251eb1d CLINVAR:1034220 biolink:causes MONDO:0000572 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 016a46fd-0fb7-4fd7-bf99-6263653c1bb0 CLINVAR:1034220 biolink:is_sequence_variant_of HGNC:9831 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0af9c0fb-0263-47f1-891f-58cf83f3dce5 CLINVAR:304491 biolink:genetically_associated_with MONDO:0000572 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 08bb75af-8ed3-4eb9-a043-cf95bdd4e3ed CLINVAR:304491 biolink:is_sequence_variant_of HGNC:9831 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 05baf19a-aff1-42bd-92a5-e708942c8abc CLINVAR:285045 biolink:causes MONDO:0000572 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6ac4e1a8-5366-47c7-8607-0eed9b11cb3c CLINVAR:285045 biolink:is_sequence_variant_of HGNC:9831 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b3047824-5498-484d-a61d-cb184bc1fcb2 CLINVAR:372487 biolink:genetically_associated_with MONDO:0000572 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 26dbdd29-fcac-4366-8cfc-2a3d555b4dcc CLINVAR:372487 biolink:is_sequence_variant_of HGNC:9831 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aa3a6067-88de-4349-b05e-e7e23b2edbc7 CLINVAR:626157 biolink:causes MONDO:0000572 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 944a0fe2-1e98-44fe-9a55-70cd2a6a327a CLINVAR:626157 biolink:is_sequence_variant_of HGNC:9831 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6fa6979a-c83c-45cd-bdae-09fb247ef4f0 CLINVAR:235411 biolink:causes MONDO:0000572 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a1a3eaab-9eb8-4bde-bc09-8e452866b27a CLINVAR:235411 biolink:is_sequence_variant_of HGNC:9831 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2e8f8426-537c-4d21-80fc-2e1a0fed1623 CLINVAR:68681 biolink:causes MONDO:0000572 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 755726e1-59d7-43bd-b741-74e8810d8eb9 CLINVAR:68681 biolink:is_sequence_variant_of HGNC:9831 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bb8cf950-046c-43da-83d8-5c31026fba87 CLINVAR:496630 biolink:associated_with_increased_likelihood_of MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 890eac8a-fb68-48fc-add9-d1f650dbf771 CLINVAR:496630 biolink:is_sequence_variant_of HGNC:9832 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f31b6ebd-c2f7-4059-a297-0b6e7ee315ef CLINVAR:13133 biolink:associated_with_increased_likelihood_of MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8c854a31-7935-4c5c-b489-653d710590db CLINVAR:13133 biolink:is_sequence_variant_of HGNC:9832 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 510bb2a6-7a9e-41ba-9e83-f93ae1190524 CLINVAR:1075544 biolink:causes MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a2610c13-5310-4a2b-bce2-fc368788ca18 CLINVAR:1075544 biolink:is_sequence_variant_of HGNC:9832 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8da97da5-fa1a-4434-8ace-b04ddfe84f78 CLINVAR:13130 biolink:causes MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f656efa4-98ec-425f-93b0-83eff9684c1e CLINVAR:13130 biolink:is_sequence_variant_of HGNC:9832 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ef5a67a3-629d-4db2-8352-5e2147d3c89a CLINVAR:500475 biolink:associated_with_increased_likelihood_of MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2e13a144-9e0f-41d8-b7ab-8e71392e5172 CLINVAR:500475 biolink:is_sequence_variant_of HGNC:9832 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 999d1110-f119-4cd7-95a6-d5a11e0f6c6d CLINVAR:36719 biolink:associated_with_increased_likelihood_of MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 653378e9-f129-4a19-aac8-c6b73c7a75be CLINVAR:36719 biolink:is_sequence_variant_of HGNC:9832 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7f4698cf-f147-44bb-af96-039daf9fda3b CLINVAR:1412375 biolink:causes MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a574666e-cbf2-4366-9bb7-278e73a05f2b CLINVAR:1412375 biolink:is_sequence_variant_of HGNC:9832 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 01805de4-ad02-43e2-898d-1b22ed8138ee CLINVAR:13138 biolink:causes MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5b503787-fdc9-4b5e-aa6c-158d3622bb56 CLINVAR:13138 biolink:is_sequence_variant_of HGNC:9832 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c5d34905-5ac6-4964-abd0-9fa0e8fcffe6 CLINVAR:427020 biolink:associated_with_increased_likelihood_of MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5031782f-c2b6-4d47-ab54-f67472111fe4 CLINVAR:427020 biolink:is_sequence_variant_of HGNC:9832 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3b28ddc4-5800-4b0a-b3a4-4a1880447296 CLINVAR:624608 biolink:genetically_associated_with MONDO:0010938 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ea42bee3-789d-4c7b-9d35-ce51116f378c CLINVAR:624608 biolink:is_sequence_variant_of HGNC:6193 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9fcdc12e-81ea-4261-a4ec-94363b915734 CLINVAR:36415 biolink:associated_with_increased_likelihood_of MONDO:0010938 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8795725d-b0cb-4aed-a2c5-a3f15676366b CLINVAR:36415 biolink:is_sequence_variant_of HGNC:6193 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 123da728-72b0-4cef-9a8e-cf818c30a80c CLINVAR:891294 biolink:genetically_associated_with MONDO:0010938 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 69ae6717-2c13-473b-8037-7bc8e0da8d2e CLINVAR:891294 biolink:is_sequence_variant_of HGNC:6193 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 11d1ff98-90ac-4e1b-8777-7b72bc19260d CLINVAR:81020 biolink:causes MONDO:0010938 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 12c2779e-c3de-450e-bce0-23eb95bbcbd4 CLINVAR:81020 biolink:is_sequence_variant_of HGNC:6193 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 29fcbbca-8175-4460-b80c-69a1ad2a2a9e CLINVAR:36423 biolink:causes MONDO:0010938 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 74460406-a4f0-4385-8564-92421aa67b17 CLINVAR:36423 biolink:is_sequence_variant_of HGNC:6193 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b0410170-c2bd-4363-992c-16e1357a9a12 CLINVAR:644288 biolink:causes MONDO:0010938 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0f4dbc89-455f-4307-baad-7063944f552b CLINVAR:644288 biolink:is_sequence_variant_of HGNC:6193 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5a9f273d-c35b-4c68-a0c1-bfae098dde0d CLINVAR:1999662 biolink:associated_with_increased_likelihood_of MONDO:0010938 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8f128347-7a5a-40c1-973c-03dc95c614d4 CLINVAR:1999662 biolink:is_sequence_variant_of HGNC:6193 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 84723325-5108-4a14-a75b-6f51f87d8f65 CLINVAR:2048620 biolink:genetically_associated_with MONDO:0010938 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e2cfe043-ff04-413e-bc69-72aa63939059 CLINVAR:2048620 biolink:is_sequence_variant_of HGNC:6193 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9dd0dd77-5166-4486-b1ab-923459de63ff CLINVAR:2054022 biolink:associated_with_increased_likelihood_of MONDO:0010938 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e2e4d191-6aea-4531-af16-ed497d81ea53 CLINVAR:2054022 biolink:is_sequence_variant_of HGNC:6193 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2b5d7823-a7af-4d69-afb3-da57f902c283 CLINVAR:962267 biolink:associated_with_increased_likelihood_of MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 295f1f4b-7fe3-44fe-8120-54635d40fd9a CLINVAR:962267 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 26a37ab3-e265-40be-a220-2a9d0fd8157d CLINVAR:372386 biolink:causes MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen afcbcf22-fd2a-47a4-9046-8e7d7a08875b CLINVAR:372386 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 321f5918-3c89-485f-b0f2-724e321f1bb2 CLINVAR:280035 biolink:causes MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4f5bb33c-1c40-48d5-8d2c-69bfc479097e CLINVAR:280035 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6a83c3f7-d1f9-4ac7-a55b-c28b2b39614c CLINVAR:225195 biolink:causes MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f6564be5-c824-4e2a-920c-3896513baed0 CLINVAR:225195 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7a18c9c2-9fab-4421-95f7-f36a04d6111d CLINVAR:10027 biolink:causes MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e7f8c2ca-388d-4008-a79f-faf285b710a6 CLINVAR:10027 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 69c0217b-785c-43a9-8c36-51274d744b1b CLINVAR:837417 biolink:genetically_associated_with MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 37f6c5bf-d29f-4ef7-b856-8984497fac10 CLINVAR:837417 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 61835ccc-aa7b-4d89-a685-8b3376f2c908 CLINVAR:532191 biolink:genetically_associated_with MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e378f8b2-7c0a-4de1-9923-7ebdc6cde8c4 CLINVAR:532191 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7b82d72a-24e0-4426-99fb-44912a6ed383 CLINVAR:1559662 biolink:genetically_associated_with MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f40b41f5-2e7c-4597-8261-f0d370def142 CLINVAR:1559662 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 77ef3fbb-d512-4d03-a727-ad198d62377d CLINVAR:1368945 biolink:causes MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9fe477c2-128c-44f2-9dc8-1e587c8b5183 CLINVAR:1368945 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4e4a819e-c7c5-4e33-bf02-e84adaf73ca3 CLINVAR:633274 biolink:genetically_associated_with MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c83c20a7-fd28-48e5-9b18-de4b9dd5fad9 CLINVAR:633274 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a1ca2c53-9434-453c-9916-eace08029c7d CLINVAR:690455 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 370fe64f-d8aa-4419-ab38-9440851f4369 CLINVAR:690455 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1521e43c-bb22-451d-baae-b37c2697432a CLINVAR:932987 biolink:causes MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8bf6eab0-4613-4378-8c2b-db74a460eac4 CLINVAR:932987 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ff874f79-2691-4f96-93c7-1997777174ac CLINVAR:825366 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3c007971-7425-4d94-b957-8f5b7a1e26b2 CLINVAR:825366 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8492255f-ef16-44e7-818b-1af6d8f8d3c2 CLINVAR:477225 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 291a7821-b9b9-4eb4-9b08-7af931e9428f CLINVAR:477225 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eb4dffc9-f1cc-4475-8a9a-6e4b875e1848 CLINVAR:825165 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c4041d24-fb4f-4440-bebd-73e4ac503b24 CLINVAR:825165 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a526da3b-067b-4741-ab07-3852e7920427 CLINVAR:939082 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0e60ebae-c472-4ada-99fa-600abbaab772 CLINVAR:939082 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eb068638-2a34-4e35-af3d-2f724d5bf18d CLINVAR:933119 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 14f7d474-e77e-427c-a424-51d913c7b88b CLINVAR:933119 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9a7954dc-cf88-43e1-ad77-5688d41b1fa9 CLINVAR:30566 biolink:associated_with_increased_likelihood_of MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0ea660ef-bff0-46a5-bf33-375a808b134b CLINVAR:30566 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e6ecca8c-485d-4596-9c75-3b6c95a73edb CLINVAR:36212 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 76752855-6472-40b9-bcee-a6567fcbaad0 CLINVAR:36212 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 26c13e38-0127-4e28-b420-63e3cf848758 CAID:CA367402683 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 465cf3ab-612d-4f02-97f8-4e24faf92733 CAID:CA367402683 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 580f6dc8-3843-4e5e-93f4-4fe7a2d5eb80 CLINVAR:447411 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen de8839a3-7840-417b-802a-459ed1ad8f5d CLINVAR:447411 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4e0e9203-6012-44d9-b4be-febdf33a2353 CLINVAR:804852 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen dd451960-24d1-4fc7-a0b2-c20f763b248f CLINVAR:804852 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4cd881c2-2710-40f5-9764-06662b6cc826 CAID:CA367401193 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7ca6afdd-3a34-497b-b9d2-bb821bf4dc59 CAID:CA367401193 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7a4c298b-2bcb-41ef-a295-1177617b9887 CLINVAR:1807279 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 31c53ff3-9b31-4b38-9052-ca02d246aaaa CLINVAR:1807279 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 70afe0cb-7065-4741-add0-385b0d2977f8 CLINVAR:995373 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7766db3f-a29e-4811-810c-4122831bff91 CLINVAR:995373 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0ad4f6c8-35ef-49bc-8192-b053390f59f3 CAID:CA367397094 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 751f604a-50d1-4a52-aa6a-cf28345e933b CAID:CA367397094 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c2febf08-36ab-47fc-a5d7-a199688b3ff7 CLINVAR:447381 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b63c8514-f237-41e1-9aa7-3ea419ba1d26 CLINVAR:447381 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 467a7b46-1b7c-441b-97b2-21dd9607e479 CLINVAR:36174 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen eccdcdfa-f490-41aa-86ad-be5149b71703 CLINVAR:36174 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 73005211-3aa7-414e-a2b5-b6f1233fe607 CLINVAR:418228 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 23f78be0-601b-478c-a097-96e1edf51e54 CLINVAR:418228 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 19807e72-72b6-4deb-bc93-aedadbd5bb70 CLINVAR:2691825 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 52579dca-9aee-4267-8dfb-c525036ce20a CLINVAR:2691825 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2b1ca47e-ce76-45ae-940e-164463ba24e7 CAID:CA367401296 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 744d0c19-c3f2-48e2-b8b2-0d60bf2b99d6 CAID:CA367401296 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen acb4a0a3-5372-41f2-b279-6da4d8d62fe4 CAID:CA367401320 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d13c0e27-8b05-420c-9e6b-595785d4bedf CAID:CA367401320 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 286b9505-d597-4afd-8d99-852f4079a167 CAID:CA367401688 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5379a6f1-9717-49ec-aeca-2a91f787063c CAID:CA367401688 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8c9eb818-fe76-4d3c-9548-cba389d85931 CAID:CA9870415 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0665ed7c-d456-449c-a8cf-6f9833c3f285 CAID:CA9870415 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 67a1c714-dcd9-4a66-a656-cdeae622284a CAID:CA409108291 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7961d386-da18-40d7-be0e-508e4441038b CAID:CA409108291 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 03cd3211-b505-46ea-90ca-272780c5f03f CLINVAR:36346 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4745695a-c0fe-4fcf-b75a-e8f1d3ddbc7a CLINVAR:36346 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a3240672-a27d-4ee6-a04e-ab8294866adc CLINVAR:1299754 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 535c35df-1158-4265-ae29-1370b1bd5ce6 CLINVAR:1299754 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0cda9a95-e3d4-409b-9417-d98f2bb26734 CLINVAR:447521 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9934891c-fc06-4be0-97fe-e961d8f76a19 CLINVAR:447521 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 68ef81bf-edd3-4d00-ac81-bf5173961874 CAID:CA386964742 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 59a30817-293b-46cc-bb5e-8c70934d6d61 CAID:CA386964742 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c08bf209-63a9-4bbf-9ad1-ef7cf92ee186 CAID:CA386964799 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen bed2aae0-3b4b-4c25-9f18-1e4b02a641e3 CAID:CA386964799 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen abbc9734-e68b-450d-9a8b-4a41c0855e43 CAID:CA2580611076 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9ab47147-668e-4fb8-aea2-13772f9f886b CAID:CA2580611076 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5bc59481-53c0-42f3-9add-a06f154313f8 CAID:CA386965032 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1040430b-c12d-41dc-bf11-532e34be662c CAID:CA386965032 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 208ba29f-9d65-47a9-a808-265d79fc3cba CAID:CA2580611120 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a7eef75f-6832-4d51-8f8a-29b6e9576938 CAID:CA2580611120 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 20c2aa93-5402-4de3-9cc0-15e1e17ca898 CAID:CA2580611121 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c4eb7f96-99d3-465a-802b-4c51bcba2146 CAID:CA2580611121 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5e9994d4-391f-42ee-928c-b5e6dab1954c CLINVAR:2691846 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 148963c2-b637-4431-9293-75294f8a861a CLINVAR:2691846 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4d2cad5b-59eb-4083-b840-842bb871332e CAID:CA386960641 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1e82228c-eecb-403d-99cc-f7edf4b6dcff CAID:CA386960641 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 778b5b33-ecda-458d-b691-a982b766b8c0 CAID:CA386960737 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5f4f88af-284b-4fad-9cd1-e771057d1abd CAID:CA386960737 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c190cd98-50a7-41e6-8cf9-8e1a2ca5891a CLINVAR:897015 biolink:genetically_associated_with MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 37faa469-4756-4054-9a99-cc4056af0292 CLINVAR:897015 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 44fe2895-49fe-4809-8649-f5a008e30ebc CLINVAR:2088001 biolink:genetically_associated_with MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 715f2fde-1f19-48e7-a40c-29ebc1f75c98 CLINVAR:2088001 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9af09f66-1c7f-4cbf-a0da-c6292b9fa8ad CLINVAR:558340 biolink:associated_with_increased_likelihood_of MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 863de5bb-0d32-4af3-adbe-dc0f27bde0e3 CLINVAR:558340 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b061d7c8-940f-4309-b54e-94fcfd7b8cec CLINVAR:1505857 biolink:associated_with_increased_likelihood_of MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 61505195-8e49-45aa-8848-3fae78201a3e CLINVAR:1505857 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 305c0b60-154e-4869-8203-94873c9c4fff CLINVAR:402341 biolink:causes MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1570e18d-5a8b-4085-97e2-844705717600 CLINVAR:402341 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d08e49c6-5060-43e9-8b56-d50e83f36548 CLINVAR:1722324 biolink:causes MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1a3215c5-5524-4f5f-8b8f-f736cf3fc118 CLINVAR:1722324 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0ba6701f-7814-407f-8a7a-efa64a9b38e0 CLINVAR:2118854 biolink:associated_with_increased_likelihood_of MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b5120a39-8c3a-4e76-8457-49ab865b273a CLINVAR:2118854 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0842a568-dbd8-4f23-9bfb-11fe5ea828ab CLINVAR:2288152 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7e0ecf86-b567-499a-af6e-774192ba0c1c CLINVAR:2288152 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 982830ed-498a-48a9-9181-e9e92cc8be26 CLINVAR:2163795 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1b41351d-bcee-4d9b-9f68-ad6879c02086 CLINVAR:2163795 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c6468c30-4867-4cbf-88da-6e276d7907d2 CLINVAR:969751 biolink:causes MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2efb7129-a5fd-4e1e-ac07-f4dcd6e3f9c8 CLINVAR:969751 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6f494557-a2b8-4204-be7d-96d47926c959 CLINVAR:4665 biolink:causes MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen da055e75-a344-4b98-9e86-4490f1ab1ce2 CLINVAR:4665 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 263d39af-da59-4003-881d-c829c6d0e183 CLINVAR:802564 biolink:associated_with_increased_likelihood_of MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4b021355-dfa1-4f2a-85b3-63a58a24acf4 CLINVAR:802564 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 617c4d4b-9982-4455-b32f-468dabdcc5da CLINVAR:1364174 biolink:associated_with_increased_likelihood_of MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f2facc87-b423-43bf-8c52-644e739cd78c CLINVAR:1364174 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 07140362-4333-4800-add8-0c19d2798f03 CLINVAR:4674 biolink:causes MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2b06537b-73c3-4bd5-aff6-8ddc9ae82a7c CLINVAR:4674 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 62b32936-9851-4e6a-afd6-f17ca2345eae CLINVAR:2136852 biolink:associated_with_increased_likelihood_of MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a2e66e13-4681-4845-bbb4-c341e2133f5f CLINVAR:2136852 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 69f20ecd-6e37-475e-8813-3377ae354b29 CLINVAR:1438811 biolink:associated_with_increased_likelihood_of MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 189dcf81-ae18-40ba-bab7-592aef35d25a CLINVAR:1438811 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0b82d0d7-fb01-4a45-90fb-92d112f8dff9 CLINVAR:2136853 biolink:associated_with_increased_likelihood_of MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2702c768-c002-409c-9314-1a9f7a69dde5 CLINVAR:2136853 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a836d713-5197-4a1a-bdc1-1e0bad9bb952 CLINVAR:2107279 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 187c81a4-b208-42af-a1da-790b907c60a0 CLINVAR:2107279 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0e63aef8-1108-45a1-a1f9-f2c224fd321a CLINVAR:841042 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1a5adc15-d1a1-44d9-aa00-e785b87e873e CLINVAR:841042 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 61dc7008-9164-4b5f-b612-4847ac373b4d CLINVAR:4677 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen eb8fa2bb-ce22-4ca3-a36f-79209480000a CLINVAR:4677 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aebd460a-9570-4a4d-9a24-cf93456ee00e CLINVAR:381576 biolink:genetically_associated_with MONDO:0010938 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ab8955ad-6e71-4704-9b38-4fa5ef9bf701 CLINVAR:381576 biolink:is_sequence_variant_of HGNC:6193 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 38ea7ecd-b2b4-41a8-855c-1dbbdc7aa11f CLINVAR:496633 biolink:genetically_associated_with MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen bbd2a627-c1b8-4e7d-be60-6f1ded2c59a3 CLINVAR:496633 biolink:is_sequence_variant_of HGNC:9832 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6b24b4a5-bfda-4bff-a5b7-5a5ee9341612 CLINVAR:650904 biolink:associated_with_increased_likelihood_of MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b29aa04d-186d-453a-98d9-88a5cdc7bcab CLINVAR:650904 biolink:is_sequence_variant_of HGNC:9832 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c5846e48-7239-4c6d-b74d-3efcc4ea14dc CLINVAR:496629 biolink:associated_with_increased_likelihood_of MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 906f5033-ad2d-4046-b256-54261be7a37d CLINVAR:496629 biolink:is_sequence_variant_of HGNC:9832 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aeaf77ba-9bc3-4160-9c18-9974e0c117b5 CLINVAR:549915 biolink:causes MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2f41d29f-4487-47e4-bf48-00224c0110c2 CLINVAR:549915 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7289d512-ec98-467a-b6e3-0afc881795f5 CLINVAR:304492 biolink:genetically_associated_with MONDO:0000572 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a97f285f-228c-4b6b-bbf3-a83d6fecf647 CLINVAR:304492 biolink:is_sequence_variant_of HGNC:9831 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ac958943-d9b2-4217-bccc-d0fc038c3794 CLINVAR:555182 biolink:causes MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4ff816e5-1a74-4037-adfb-1308429ffead CLINVAR:555182 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e58e5b49-caed-4ba6-a488-d964e3f6dc1d CLINVAR:36393 biolink:genetically_associated_with MONDO:0012163 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d77a311c-3857-4e4b-a9ed-d6c5672705c5 CLINVAR:36393 biolink:is_sequence_variant_of HGNC:6024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 60500352-6208-4056-94a6-63be3347468c CLINVAR:14843 biolink:associated_with_increased_likelihood_of MONDO:0012163 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 44d9c60e-38fb-489b-94fe-88597e74ae1e CLINVAR:14843 biolink:is_sequence_variant_of HGNC:6024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5e586976-d247-427e-9e3e-889644dbb515 CLINVAR:1968 biolink:causes MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen aaaa21e2-0165-4bde-b937-0e4ea39396fe CLINVAR:1968 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 27d3a3e2-7c6d-4302-953c-62bbfe22f359 CLINVAR:529744 biolink:genetically_associated_with MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a879ef73-2112-4287-afd4-4f28ffce37fd CLINVAR:529744 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7f112223-a155-4403-bfd5-604d20bce945 CAID:CA343774510 biolink:causes MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen bf7c6160-0e80-41a3-8e55-a54ad27a6ec8 CAID:CA343774510 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2cb71444-6b7a-473d-9b9f-58c0c78e5320 CLINVAR:660852 biolink:genetically_associated_with MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0c03d8c8-b16a-4c30-8bc2-f56d6668b749 CLINVAR:660852 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7aab021d-1eba-4f5d-a66e-bb0d12f40214 CLINVAR:694627 biolink:associated_with_increased_likelihood_of MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9152dd63-b63a-4cfe-a27d-1c1f229a970c CLINVAR:694627 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7fa8af5b-0f4e-40d6-b722-ebf0da67f630 CAID:CA2573051124 biolink:genetically_associated_with MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b1c0882e-6de1-4074-9dae-755c37ae3531 CAID:CA2573051124 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 431af9b3-8269-467a-93c8-60d3659c11e8 CLINVAR:18017 biolink:associated_with_increased_likelihood_of MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a9fc26c0-fa84-4c3b-989d-ed95e31e4017 CLINVAR:18017 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 949072d4-eca7-4dc7-8b55-c3c3cf4584dc CAID:CA421942771 biolink:genetically_associated_with MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 61fc0434-1c4d-467a-a792-156c3077e42e CAID:CA421942771 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 92825577-6b9b-4bb7-8cd6-072f32946a41 CAID:CA2580612102 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen de78f041-c30c-4f98-9992-59984c3eba14 CAID:CA2580612102 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4e726ff6-f147-4a3b-9ba0-01acbe0138f0 CLINVAR:585914 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen efb4de84-9ad6-4620-8ea7-96cd73452295 CLINVAR:585914 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 66b91323-7872-4e35-a8f1-8aa808bb0f7b CLINVAR:36172 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0f9453af-a216-4932-a5ca-aed0cea03519 CLINVAR:36172 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9973d96a-0dfd-4331-af33-7250af228204 CLINVAR:2691837 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6e8eaab6-1ea8-4909-8294-6dabb3e56504 CLINVAR:2691837 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f5e56732-cc8d-4500-b28b-5013ddc1626a CAID:CA386958785 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 04bfd3ef-f2d7-40c7-a4a6-12e2440230d9 CAID:CA386958785 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9f5598aa-72f3-4721-b601-0e76d47f3434 CLINVAR:1384058 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 29050f98-0d24-45f6-afce-9115edcc6f6b CLINVAR:1384058 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 50588954-d1b9-4917-88f8-12680cb9b83e CLINVAR:1298987 biolink:causes MONDO:0012163 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 38db9283-0525-493d-966b-2a7f7d636a1f CLINVAR:1298987 biolink:is_sequence_variant_of HGNC:6024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 68110beb-a1bc-431c-9cfd-8b88312b327e CLINVAR:642787 biolink:associated_with_increased_likelihood_of MONDO:0012163 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen fbd2a949-fb61-4d15-8add-f949d949e254 CLINVAR:642787 biolink:is_sequence_variant_of HGNC:6024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1fd48a3f-9b37-4d9c-88f2-1f39aa5cd4f0 CLINVAR:1323115 biolink:associated_with_increased_likelihood_of MONDO:0012163 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ed48c791-4eae-4401-b160-29d485d27fb7 CLINVAR:1323115 biolink:is_sequence_variant_of HGNC:6024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3265bc21-cf53-47d6-95f4-59530615b33f CLINVAR:1028611 biolink:causes MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 32c92372-49b9-4aa1-b7d9-0536594526c7 CLINVAR:1028611 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 62d3ed7c-8a89-4f78-b08a-01115d022d6c CLINVAR:596673 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5ef866ae-2aec-4fd0-8103-f96f7f0fc47f CLINVAR:596673 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ac6b8776-e2e9-4312-9449-d609e281f76a CLINVAR:866507 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9f8380d2-d3df-451a-89b7-a3e19e6fdba6 CLINVAR:866507 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 570e2d77-b9e3-4d38-b6eb-7037570b660f CLINVAR:29873 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 905fcbb2-2549-4d7a-b8a4-fa17a8ca7ec2 CLINVAR:29873 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 122adaf9-2a04-4401-9cf8-915f6c741194 CLINVAR:98846 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9c912e5a-7a51-4cf9-9103-bf818574b2a4 CLINVAR:98846 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 74cd54d5-20e4-422e-bd6f-daec3118b53b CLINVAR:98848 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4b8c564e-d92d-45c8-8f9c-9dbe9fde43fc CLINVAR:98848 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3228db3f-0ea2-42c3-b904-7f5f53e5185e CLINVAR:1369885 biolink:associated_with_increased_likelihood_of MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4be175a6-f298-45c3-bc77-955f8f647346 CLINVAR:1369885 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 444fe9a0-a449-45fc-9150-b156eab28f52 CLINVAR:379561 biolink:causes MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f019d3cc-f676-428a-96cd-9bebcafdbff7 CLINVAR:379561 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 23c6a31e-9c85-47f5-8d8f-fb1c08834556 CLINVAR:98835 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen be9699c0-8d4f-4360-a962-85a4af7cefa2 CLINVAR:98835 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c5485770-944a-42f1-b245-7d3b4b8c25e8 CLINVAR:973955 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2ac0a199-5a76-496a-a67b-03f1f08304bb CLINVAR:973955 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4aa11851-e0da-4834-b7e8-288fd81e7b27 CLINVAR:964193 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 77c1a3e5-1625-420c-9926-327c4ab29d55 CLINVAR:964193 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9498eb02-4973-41cf-ae0e-630fb1a9a537 CLINVAR:467827 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 87ed8aad-4ac1-4ade-a807-366b7d17445d CLINVAR:467827 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7f3153e2-827b-45bf-a4dc-a2443fe1274a CLINVAR:1213912 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b66726b3-bab1-4e1e-837d-c4bc7810b03f CLINVAR:1213912 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 20ea8401-e738-4538-8eb2-99143632cd6a CLINVAR:10019 biolink:causes MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c408aa21-922e-432f-8c26-1e1c0499bb1a CLINVAR:10019 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8db40eee-3dc5-452e-9a60-b6d23758ab85 CLINVAR:941327 biolink:causes MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8ee47a55-b4fa-41dd-945a-c6eeac9577ff CLINVAR:941327 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2b04a363-ff5e-404f-b0f4-a68aeec9246a CLINVAR:1339483 biolink:causes MONDO:0012163 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 85445854-97bd-4e3c-82c3-2bc2cae0968a CLINVAR:1339483 biolink:is_sequence_variant_of HGNC:6024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5ddd1b2a-8e68-434b-9d7e-6c4d60181d0b CLINVAR:429640 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c6a567bc-470c-4627-afa6-882e13c55191 CLINVAR:429640 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 52f97732-06bc-41b0-b90e-e7cc8f21f0fc CLINVAR:36169 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3add2aed-74a0-4142-b3f7-08091c13b476 CLINVAR:36169 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6524fe62-80bf-483d-8600-1237b849c548 CAID:CA367400637 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen bcca659c-7574-45bb-adf7-df7eccd9a18d CAID:CA367400637 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ee6cb006-7c39-4648-89b3-fa5e9ffef1f1 CLINVAR:2691831 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9a107091-9501-4a1e-a3d4-daf15ca214dc CLINVAR:2691831 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7de79373-0cc9-4fb4-ae2c-0f736412a84b CAID:CA367401125 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ea59c31e-2719-4202-9ab2-d93c4aeced47 CAID:CA367401125 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ea4a52af-29a7-4bd6-8e8e-7cf9505f087e CAID:CA367403546 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ca9de2fa-aa0d-48ab-9ecf-7ac46b63d11d CAID:CA367403546 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f9b4ea22-faff-411b-be0a-df6fbaa4ba10 CLINVAR:1335461 biolink:associated_with_increased_likelihood_of MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 29ee2bf3-c788-4c3d-89de-c680623c62c7 CLINVAR:1335461 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4b0e21c4-670d-4587-aa05-2aa9a4854d13 CLINVAR:456438 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2286c375-9e64-4c46-ab4f-43b35953e574 CLINVAR:456438 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8e0480ce-93a8-4e27-9204-2804735b7094 CLINVAR:526525 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 23f7726a-e21e-4a97-b151-974b21f4342e CLINVAR:526525 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0b5f6aa6-eb40-4f19-b899-710c6acfed70 CLINVAR:439746 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 12f7e38c-d035-4e08-acdc-b0376f1dd29b CLINVAR:439746 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 94a8367e-7a06-4a79-9b0b-95a19e844bab CLINVAR:282242 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d6321252-5532-4d51-8e36-c9aa1bc1e922 CLINVAR:282242 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5e6382ab-c7eb-48cf-848e-2ae47829ae94 CLINVAR:284232 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3b2c3e7c-83e2-4cb0-a776-a74b045895b6 CLINVAR:284232 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3ecce55f-db91-4a73-90fc-fe00f24f20ed CLINVAR:465141 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 17a7621a-b6ad-4704-aa03-7274953ef8b5 CLINVAR:465141 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a4ea17f3-ea96-4a41-96fd-fbb9e9fd30b7 CLINVAR:533700 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7a61add0-9889-4fbf-97f3-0f2666bd78b7 CLINVAR:533700 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dc605bfb-4ce1-4ba1-88f8-d3ff33d02178 CLINVAR:2683736 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 980d1f7c-d06b-4a9d-9e6c-a0157a76cafa CLINVAR:2683736 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 91539a60-5782-44c2-b4b8-24598cd95e96 CAID:CA645287926 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b22a3bc7-5cc0-4714-8834-c15fefa86909 CAID:CA645287926 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ea200087-4635-4a75-9163-bbb734915ea1 CLINVAR:2031214 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen fd19cc0c-86cc-48f8-bdfa-862c1ac73ae8 CLINVAR:2031214 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 19ad3edf-a9e3-4a3d-a7be-1f64872ab895 CAID:CA415084839 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1d2b19c1-121c-4b54-a603-a54f93e5de1b CAID:CA415084839 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5ebf0e51-f835-4bcd-8a44-e03a4d7481b7 CAID:CA415078334 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 545d8f66-5f56-4417-a1dc-d6010a26be17 CAID:CA415078334 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a8bd6d8c-4162-4b26-9165-1268551dd70f CLINVAR:917495 biolink:genetically_associated_with MONDO:0012996 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 16ff00d9-c5e7-41cb-8a77-26ac7d1fc700 CLINVAR:917495 biolink:is_sequence_variant_of HGNC:4175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 542221ae-3e7d-45af-b85b-3b2b13d44254 CLINVAR:917496 biolink:genetically_associated_with MONDO:0012996 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d116261c-f3c0-4ee9-9b7b-ee9bad8ae32f CLINVAR:917496 biolink:is_sequence_variant_of HGNC:4175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cff83c2f-f69d-487b-8f0d-956c8326fd11 CLINVAR:36712 biolink:genetically_associated_with MONDO:0000572 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen cd0087b0-5f90-4f9c-820b-eb9cd9a16e90 CLINVAR:36712 biolink:is_sequence_variant_of HGNC:9831 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 588d21d4-0023-441d-a07b-e356bdb6609a CLINVAR:583401 biolink:genetically_associated_with MONDO:0000572 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 57f02337-045e-4bd0-9e3d-f339e1ced197 CLINVAR:583401 biolink:is_sequence_variant_of HGNC:9831 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b26042a8-9639-45eb-85b1-34ae20af90a7 CLINVAR:231277 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d195d0a8-3236-468f-9231-8ed1551bd3ae CLINVAR:231277 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen db64219c-9e06-46c9-8013-6bf09788b616 CLINVAR:135775 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a1c2733f-a666-4cc1-b452-f0f753520652 CLINVAR:135775 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b8596791-e8f8-4758-baa0-9e1fda7bcbd8 CLINVAR:181996 biolink:associated_with_increased_likelihood_of MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7ee1aa84-be2f-44b7-bfec-b72162087b14 CLINVAR:181996 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 06844ee4-1282-499c-b0af-6eabf55289c9 CLINVAR:407515 biolink:genetically_associated_with MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 64c52d63-e37f-44d5-a948-01c6d2f0446f CLINVAR:407515 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1415249f-14b0-4213-bf68-3d3be463a4be CLINVAR:407510 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c5dd4c1a-0489-4690-9b69-236ba7e149ae CLINVAR:407510 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 05e78897-4ade-4279-a87f-160d5a6c3edd CLINVAR:229794 biolink:associated_with_increased_likelihood_of MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 249eadf9-3db1-46f1-ba9a-7cf12b57f648 CLINVAR:229794 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d629d565-c62f-4ff7-aa25-aeda0990572e CLINVAR:127459 biolink:associated_with_increased_likelihood_of MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9ae83c24-2d09-4560-bdc9-ad7ffd33a1a8 CLINVAR:127459 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b2113b3a-e843-4adc-ac5e-61b2051c7948 CLINVAR:2921289 biolink:genetically_associated_with MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 155557fb-d5eb-47c5-b366-c6666e406d4f CLINVAR:2921289 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ac5b45e9-46ae-46ba-89ec-3e18d2819173 CLINVAR:569567 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c6bd928a-5fa8-4f17-be03-34a631c46081 CLINVAR:569567 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 74c1fac6-5d19-44c7-be76-b50d9499bd5e CLINVAR:1713223 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ea13cb2e-cb01-43cf-98c6-aa6cb208f4c0 CLINVAR:1713223 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8cf7f0ba-6790-4ea8-bb82-d4893323fce9 CLINVAR:2921288 biolink:genetically_associated_with MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f411f7c0-e96a-4725-9cbe-06a921b6f9df CLINVAR:2921288 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1ae5c006-ecb5-40fb-a83a-a28ad27ef2c7 CLINVAR:220121 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 39df9259-1478-4e19-9a45-fae55ae46567 CLINVAR:220121 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 10ae6f6a-e983-451e-9db9-4e2b5c1f24e8 CLINVAR:265634 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0f79213f-0fd4-4cf4-9707-58e1a61dcb35 CLINVAR:265634 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 63032f6c-0c10-4212-a234-7d5481da5e4b CLINVAR:127405 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5a593b82-e9f3-4f1a-a6f0-e621e48823c5 CLINVAR:127405 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a3c81cc5-0c2c-494f-83fb-84d48ecd97b0 CLINVAR:141887 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f5bff64a-f312-4fa1-ac4f-20723ca39acd CLINVAR:141887 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 023e58d2-a326-47de-be79-8220e6d615b2 CLINVAR:141474 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3203c0bb-a2d1-4643-b671-80b271f65286 CLINVAR:141474 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7aa6d8c8-0d0f-4199-9189-01a12f3528d5 CLINVAR:141742 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c007b4e0-7c5d-4cbe-a8b0-262cea21b80a CLINVAR:141742 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5718e646-cd97-476b-a52e-bc8534d4e2f3 CLINVAR:216021 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 522d8e67-401c-4502-a1c2-13ab4f600dda CLINVAR:216021 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2f324f75-a59f-4c43-9381-49c1fb44188e CLINVAR:556315 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d7db98b1-4b2b-4fea-8456-fd8fbb408d8e CLINVAR:556315 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c2e46599-6fb7-4a55-a750-9196c178bf9c CLINVAR:127463 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8c33a0f5-0141-4733-983a-18070fb2bb74 CLINVAR:127463 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 88a50f70-f9b5-4b81-8063-f58b84aaa1e0 CLINVAR:989764 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3c4e03fc-e9c0-4384-bd94-5be801454baf CLINVAR:989764 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9a9441fb-4fd6-43bb-9341-cde2a10d5dd4 CLINVAR:1515797 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen be5f7c67-e3d1-4f1f-8141-e65982fe8fb6 CLINVAR:1515797 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6a704e2e-36d4-462d-a979-ba55d94df623 CLINVAR:1057857 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 980cc3cf-707f-4b6b-bfb4-98254472b714 CLINVAR:1057857 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 050761ff-e61c-4245-bafc-511a0a888f82 CLINVAR:522770 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 17499f02-0f19-47cd-9f11-b8f009581b6e CLINVAR:522770 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c59b65c1-2078-4ed7-b9fd-a3f80ac1d68f CLINVAR:1015913 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f0c3a635-51db-4ab2-b7fd-69ff8350f461 CLINVAR:1015913 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 388cf1eb-c981-49cd-ae5b-b2d1e9e40492 CLINVAR:847561 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 95353691-7ccd-49c5-83cb-013e3e277666 CLINVAR:847561 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f3bd8edb-dc1b-4b97-a486-686ba9da2644 CLINVAR:2440718 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 63813924-f1ee-4b18-86cf-fe98ed814f1a CLINVAR:2440718 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 717ac7e1-a74d-44ed-83ce-3218567a7686 CLINVAR:877154 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 31d19ccd-5627-430d-b23b-30a5f8daf60f CLINVAR:877154 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8cae74f2-2703-4ad3-b704-c17c64b25d28 CLINVAR:1438768 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3c1ebe84-6af3-4725-9c3f-74711cbcf999 CLINVAR:1438768 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 58d4ce08-0669-4d69-909e-b3b1934009cb CLINVAR:968725 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6a648765-ab25-45a2-8caf-c567e1bc78c1 CLINVAR:968725 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0c249fc3-e528-4372-95a9-5cc8044ff1c4 CLINVAR:2199693 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d3014a25-4f2c-4664-9dc1-5c35fd121004 CLINVAR:2199693 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen de178bfc-aaf6-4bc3-aaeb-45feec740404 CLINVAR:633185 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b9482621-a223-4d99-bb54-816b3cc2c7b7 CLINVAR:633185 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 664229ed-ebe9-413f-bd61-4322bd11a4d3 CLINVAR:1515264 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6f1abc6e-c2c5-4523-b980-cffe4c6fdf35 CLINVAR:1515264 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e7a9c45f-7f2e-4b49-afa0-f59d414f903a CLINVAR:655337 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9eedb96a-1f98-4ceb-bf39-8128c89dda96 CLINVAR:655337 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c39bb867-70b3-4c89-8248-04bc5185ad24 CLINVAR:1434035 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 40e5785f-ca22-4c90-ace5-d7169d0c0713 CLINVAR:1434035 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f7078af9-8573-4ec9-905e-f61865a08f40 CLINVAR:536367 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fcb812de-812b-4519-8019-c58edd6b21a1 CLINVAR:536367 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 928ad534-7ac6-462b-b33e-d23035b10bc6 CLINVAR:648095 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2acc00ce-fa85-4f20-aa56-6246ffc3b5ec CLINVAR:648095 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5fc8ace2-a960-44bf-ab65-8bf48998b7c4 CAID:CA1139771319 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 40975e18-b01d-4a2b-9818-c40c9967621b CAID:CA1139771319 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4a500df0-576d-4a8f-8962-4f2d67099412 CLINVAR:281715 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 072f8a40-9b8e-48e1-8006-819c59e77a83 CLINVAR:281715 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5e527d2c-61ae-47fd-a9ad-070e715b2d8c CLINVAR:98889 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen bab2ed6c-3709-4054-87b1-049007f1db95 CLINVAR:98889 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 851d2c1b-bd06-4836-a8c7-34fae4bdf097 CLINVAR:1069898 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0dd80540-62a4-4674-b881-78cbdacdbbd8 CLINVAR:1069898 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 19f7dea4-de1f-4c3c-aadb-1b2841815775 CLINVAR:98888 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen fae685bd-668a-4de0-8d8e-524e68652f47 CLINVAR:98888 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 53cec12e-ba9f-463f-ab89-ef1ded7c8122 CLINVAR:658837 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e362b6b9-a680-4ac8-8920-1a840a6ebafe CLINVAR:658837 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d104e4c2-3e23-4e90-9d08-a18fd3ad35bd CLINVAR:421620 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a366ae59-6b8c-46fc-a919-deae21d7d7f7 CLINVAR:421620 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f68c1b29-d5d5-4e90-a090-f12d337b881e CLINVAR:870342 biolink:genetically_associated_with MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e5f65622-24dc-4f91-acf0-2066ca37d9ae CLINVAR:870342 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 14093d9b-7b39-4155-a8bb-baf9834e66d6 CLINVAR:962032 biolink:genetically_associated_with MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d2a6c91a-fd56-427b-a1bb-fc27c21828a1 CLINVAR:962032 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2dc0f98b-249c-48ee-9a91-15f9e308c348 CLINVAR:298021 biolink:genetically_associated_with MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7d8eb13e-b95c-4f51-bf9a-ec7403e57b39 CLINVAR:298021 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cd4ba3f0-8a8e-48a2-865f-9832ec72aaf3 CLINVAR:876133 biolink:genetically_associated_with MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e6ce70fb-4ebd-4f41-8a92-9d72eb8331b8 CLINVAR:876133 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8ebfa713-98c8-44a3-bcbc-463415213b5f CLINVAR:1026379 biolink:genetically_associated_with MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 31f739c0-2bb2-46aa-a500-091df7ba063f CLINVAR:1026379 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ff5fc4f7-5a2e-4ee6-8a27-3024021dac3f CLINVAR:874234 biolink:genetically_associated_with MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 91080b72-5068-4171-8f41-e1aaac314847 CLINVAR:874234 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d025a3cd-f178-4418-be2e-51de39643088 CLINVAR:627224 biolink:genetically_associated_with MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 58017c6f-3b1d-453c-a55a-f7c6cc287396 CLINVAR:627224 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7f5cde69-1ece-4718-a4d7-252d6e25b5ec CLINVAR:1170692 biolink:associated_with_increased_likelihood_of MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7355f0d5-64ce-47b7-9879-02509720336b CLINVAR:1170692 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4378f7dc-8435-4681-a5a1-0b8b93248f91 CLINVAR:529741 biolink:genetically_associated_with MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b28bd9e2-4263-4032-83a9-2e799f85753b CLINVAR:529741 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a3594dda-d5cf-4ff2-a49b-e108e7a45791 CLINVAR:18004 biolink:causes MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8c14c9f1-77b0-4cb9-bff2-ee548f6a583d CLINVAR:18004 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 19b6257e-d579-46f3-9749-0a4e27dd5cf3 CAID:CA343772379 biolink:genetically_associated_with MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9b6f7ab4-0dfb-4874-b363-1ba772a01b77 CAID:CA343772379 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7c1f2eb4-adec-4363-82cc-3e7e7c86a238 CAID:CA343772388 biolink:genetically_associated_with MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9aac59aa-936f-43f3-bc52-9f13b7913cb2 CAID:CA343772388 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fc623cdd-013e-4d7b-89c2-3c4ec994c99f CAID:CA343772391 biolink:causes MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4179bd12-8c0d-474b-a0f5-5d1076433d52 CAID:CA343772391 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cec43371-66b3-4f92-a034-90b580d0a078 CLINVAR:1954374 biolink:genetically_associated_with MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ea4fbf5b-4fd2-45e0-9073-b496620503bb CLINVAR:1954374 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e78b4da1-5162-4e73-961b-924e7c4fdfdd CLINVAR:36232 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a3aefd73-786f-4113-b084-15c6176e0317 CLINVAR:36232 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ce63b210-64e2-4595-bf1a-be469f68f3d5 CLINVAR:1213917 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a521fe14-1d46-4abe-8cb6-8e19aced6b80 CLINVAR:1213917 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4be907ce-df46-460a-9aa4-b4ab8fb427d2 CLINVAR:13118 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 114fc643-db86-45de-8a63-fec7a502f66c CLINVAR:13118 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 28c9679a-0dbb-4928-b578-5e096500d916 CLINVAR:98860 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 30b3fa18-5001-47d8-a998-cf0da3653c1a CLINVAR:98860 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8210026c-0d54-4c17-bbcc-b7cf3a7a7a16 CLINVAR:98863 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e22cecd7-ed04-4c34-8cc3-5fa4894067a5 CLINVAR:98863 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 688b4d4e-fb0a-4278-9505-33a453b84762 CLINVAR:2110257 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9eea1031-b5ef-44bb-87eb-9abd2fa4c3a6 CLINVAR:2110257 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8b98dc29-6bcb-4cf6-948a-0b1773c1eeeb CLINVAR:372493 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6195201f-e6c2-43d1-90cf-038b7f5902d9 CLINVAR:372493 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 777ede54-0f63-4212-bf9c-c0c008b49099 CLINVAR:98898 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 498a9eae-38fe-4a3c-9622-b0ff6938ee1d CLINVAR:98898 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8968ef16-2b7e-4da3-b6d3-17090861fdb6 CLINVAR:559521 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 93f0b15f-2f06-4a6f-8f1a-fdfeb24a8eb3 CLINVAR:559521 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c8093134-dab9-4f8b-961b-0c410167ec73 CLINVAR:427864 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 437840ba-d9e6-4b06-8656-a5d380c57516 CLINVAR:427864 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a5eb236d-11cb-4217-a51e-a85cb94da3d7 CLINVAR:29870 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen fce5697e-2e39-4b61-8d04-83bf2ca17587 CLINVAR:29870 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3a486f51-4a2c-4425-9541-06391fcb4715 CLINVAR:29872 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7f885f2f-5209-4cf9-a0fc-4a681d11278d CLINVAR:29872 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1ac9fe1b-2d71-4093-b25d-ef5fe0a68bb4 CLINVAR:374497 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1fb8a835-c71e-4fce-a49c-ac680d846765 CLINVAR:374497 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 67316f04-75cc-48ae-a9eb-86c4b442c2d4 CLINVAR:744318 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3a3d9a1e-371f-4ec5-8539-0e6635692f96 CLINVAR:744318 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2ea4a128-ccfd-45cc-a17a-7f03d84745b7 CLINVAR:560497 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2b130985-e119-4b07-92aa-a91406ef2776 CLINVAR:560497 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 15dfc448-5a9a-4a31-8f23-6e0aacdfc602 CAID:CA500436058 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f536981b-4cbc-4557-83fb-144f88b51ada CAID:CA500436058 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7ca83b1a-f0e9-45a9-b306-72d0e5e99590 CAID:CA500651220 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen dd0c7e00-6f24-4eb5-beea-b8686493da16 CAID:CA500651220 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1bb4daf8-b5e5-44e7-8ff9-43d299aac3fa CAID:CA399791611 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 15b374cc-f1b1-4b57-842e-7c08f388ec71 CAID:CA399791611 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 922b5524-4269-4cc1-9b46-89f615828150 CLINVAR:98826 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen fa458b40-4972-4827-8401-8f2e5fa6ab6b CLINVAR:98826 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9e348321-b06f-4765-aa13-f4a1ddf780a5 CAID:CA399803382 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2d112f22-59ef-4c89-9cbf-4914304e0687 CAID:CA399803382 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f106a5f8-d683-4492-8f4d-80904beb935b CLINVAR:3242391 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e81a5744-3f7e-4cc6-8dc4-312fa5888661 CLINVAR:3242391 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 79eed697-306a-402a-91ad-a1b75aafeaf0 CLINVAR:1677036 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f82bc124-aa0b-4403-95c4-bcaf87fef648 CLINVAR:1677036 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 28c2bac9-f019-4be5-b8d5-13f22e54dc5e CAID:CA2497030194 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ae600940-b8f1-4080-b179-69700bb060e8 CAID:CA2497030194 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 58c559cf-0c1f-4e72-96f6-7ee1351076e7 CAID:CA2579753976 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6f05251b-8e8c-45ba-8ae9-00bd35848215 CAID:CA2579753976 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6e8e6d22-609a-404d-9eea-d3da0c832b2c CAID:CA340747756 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6fd20e58-bda9-4d27-bb49-328db3f9fa33 CAID:CA340747756 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1f28e580-b75a-4ea0-b68f-bd2899743f37 CLINVAR:801497 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9df3ea40-06d7-42ac-8452-777cf564b22d CLINVAR:801497 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d85a81d5-afc9-4194-bf8c-7a724944fda2 CLINVAR:1117757 biolink:genetically_associated_with MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4c1de5eb-2530-4b25-8960-fd747b9d02f3 CLINVAR:1117757 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen de89985d-adc3-4def-b18a-eef618ab44f6 CLINVAR:1468758 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 94534036-85e1-444e-affc-8883d830e0a9 CLINVAR:1468758 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ba87a125-2a38-4808-8eee-fb1421dec339 CLINVAR:875116 biolink:genetically_associated_with MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c98723a4-044e-4c66-967c-bb3cfdab0fff CLINVAR:875116 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 872755e9-ae46-490a-9adc-7d777ed32e9b CLINVAR:13120 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 52bf0681-2d3d-41ef-8d98-9f0d89ba7c84 CLINVAR:13120 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d82235a0-cc15-4590-a637-64f82d6dc6c7 CLINVAR:1438062 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e3bcb2bd-a253-43a1-85bc-8663dd45fe4a CLINVAR:1438062 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b4e97cf5-1368-4da8-afd7-594460f0c734 CAID:CA2580612187 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d76080b8-a90e-4bbd-af2d-eb5663a96680 CAID:CA2580612187 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bf5ac4f5-bba3-4462-8db5-a612c4b941af CLINVAR:98857 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e9d0eb30-0285-451c-b29e-9b46a0841ea4 CLINVAR:98857 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b4ed84d8-5cc3-4a51-9b7a-675c63f8da96 CLINVAR:1030779 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b21c578c-ed08-4115-abe7-9e1a7cd75f99 CLINVAR:1030779 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a5bb9a99-cc50-4b34-8d8a-1637faf08829 CLINVAR:1068757 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a5857d3a-753a-44f8-8116-d8fb09de15f7 CLINVAR:1068757 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7c2c01a9-fa89-457c-b539-461605511d41 CAID:CA2586966742 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 60132946-1167-46c8-8a99-ba4de31cefbf CAID:CA2586966742 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 86dbc83b-a861-4c2d-881b-3e5f138c7cde CLINVAR:870343 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1985b7e1-ff3c-4050-9c31-95705fe19fef CLINVAR:870343 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 629f1ab3-02c2-4b37-b6cd-c3c0a3f83667 CLINVAR:98866 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 27c9f3a7-6e64-494c-bb77-f85017ff32f0 CLINVAR:98866 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1ee3e30e-820b-4b57-8d2e-88a07647a912 CAID:CA340745588 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3e31533f-5b97-40ea-9495-4a528c8472e1 CAID:CA340745588 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0b3a7e5d-57b5-4ef1-81fc-4fc85287adeb CLINVAR:488726 biolink:genetically_associated_with MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8f080d65-8229-4b41-838b-5ea52bea6d61 CLINVAR:488726 biolink:is_sequence_variant_of HGNC:9832 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f9c15f3b-df66-445b-b6e2-1a032ac95a3d CLINVAR:1901178 biolink:genetically_associated_with MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3371b368-1624-4a94-b24c-0b061a0e7bd1 CLINVAR:1901178 biolink:is_sequence_variant_of HGNC:9832 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3eefb07a-ea80-41f4-ae22-ea41aca12e1c CLINVAR:984454 biolink:causes MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 07ea3c1e-2c70-4e33-8f69-1ddb8d17570d CLINVAR:984454 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9636a734-fc4c-4bf5-92af-1972be81611c CLINVAR:933853 biolink:genetically_associated_with MONDO:0010938 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6abdafeb-39ec-41e7-995e-f1c7fb30e5b5 CLINVAR:933853 biolink:is_sequence_variant_of HGNC:6193 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a4f91bc0-a9e8-457c-818c-8856f098690f CLINVAR:1459771 biolink:causes MONDO:0010938 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2da227be-bc74-4186-816d-882861c8f055 CLINVAR:1459771 biolink:is_sequence_variant_of HGNC:6193 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8569df35-8114-4228-83dd-8e6457978735 CLINVAR:863482 biolink:genetically_associated_with MONDO:0010938 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1986296a-3400-4271-b426-fbaedf8f58b5 CLINVAR:863482 biolink:is_sequence_variant_of HGNC:6193 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 348ac936-10ae-47c3-89db-959bc7af6adb CLINVAR:519783 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen fe2b8600-1c1e-469c-9eab-c091905b6b2b CLINVAR:519783 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 27629c70-6761-4695-a6bf-28fa7cf2ac5a CLINVAR:632819 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d29fb51b-c829-44c6-b420-3174ba58382e CLINVAR:632819 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5bea0174-4a3a-4e3e-b2ad-f7f5f05ae0ba CLINVAR:495629 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5220e5f6-87db-4a33-b1a5-5f899d128303 CLINVAR:495629 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 048c5ad9-383b-4f42-bf0d-eeeac29c5efa CLINVAR:42391 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen cb92d2a0-6ad2-431e-80c4-a0d358c57af6 CLINVAR:42391 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8300b0f1-c3ae-4996-b447-2532f9f79710 CLINVAR:547334 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8fb989c5-cea9-433d-9f17-9faf75881633 CLINVAR:547334 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b69f27e5-64f5-4abf-bf3f-00a5fde740ba CLINVAR:570737 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d23fd1aa-c95d-46f8-b95d-ec2470971ea2 CLINVAR:570737 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 32aeb7d6-ccf2-4c99-abf4-d3355d8c4756 CLINVAR:638559 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e9ca8800-0fd0-4518-9fa0-b4313bf045ec CLINVAR:638559 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 87c26782-0f39-4020-bd0b-d189dfc76659 CLINVAR:263898 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a61cc926-fdd4-4c53-aef2-9e3dd99afa50 CLINVAR:263898 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b6b478cb-de3d-41b9-8689-d2f4753a81e2 CLINVAR:200167 biolink:genetically_associated_with MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5c71bc7f-2d35-44bd-b12c-0efa65bf4968 CLINVAR:200167 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e5b456db-915c-4f81-9d54-aa5404e34dcd CLINVAR:1746353 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen bd666951-83dd-4e1b-9f22-800d0ea0046f CLINVAR:1746353 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0c0e73fb-74b2-477c-8599-47f6a622d12b CLINVAR:1679555 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fe9d0a68-f5b1-4c7e-8535-1249b9c48a6b CLINVAR:1679555 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 73013ac1-caa9-4644-bd11-732f68218a5e CLINVAR:21075 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5b734e89-5539-4d12-9de6-a6a2faddd1f0 CLINVAR:21075 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9bdfe5ab-63a5-4b1f-a077-4192cbc1ba85 CAID:CA367401686 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8ea05d78-365b-478d-94c7-d38ea49b572f CAID:CA367401686 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e0d389ff-768f-4f78-98a4-2be4708f7ffd CLINVAR:1746350 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 84bb1d2c-0035-4756-96ab-81782639a1c5 CLINVAR:1746350 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e7237645-c34d-4d6b-af34-88468dace9d0 CLINVAR:198050 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b7d2046a-09fe-46bc-ade0-f95fc2ae5268 CLINVAR:198050 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a32fadfe-28b6-46a0-a98b-7e288d0970ee CAID:CA2580612107 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen fa985ff2-876d-4114-bf95-3664904d8757 CAID:CA2580612107 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ac4b2bad-2f6e-4da0-9ba1-fb3176fe9890 CAID:CA409105441 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 65665981-3e07-4763-b9e7-9260b6cede45 CAID:CA409105441 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 94d2654b-9925-4624-badc-17c04997f3b8 CLINVAR:13136 biolink:causes MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 274cedeb-f7cf-4dd7-bf59-755ceea25e04 CLINVAR:13136 biolink:is_sequence_variant_of HGNC:9832 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b4f127f1-0553-49f3-9eb2-4faac4ea142b CLINVAR:418449 biolink:genetically_associated_with MONDO:0000572 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ddebbfe4-9f34-41c7-a5de-891e8dd2cefe CLINVAR:418449 biolink:is_sequence_variant_of HGNC:9831 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9661592a-d2b9-4e6d-b244-044d9bdb1fb4 CLINVAR:1050623 biolink:genetically_associated_with MONDO:0000572 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b63eeabe-c418-4a3c-b850-b91d48fadc36 CLINVAR:1050623 biolink:is_sequence_variant_of HGNC:9831 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 083cc0d7-7845-4ac7-bb77-ebcf6c78c080 CLINVAR:551588 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6cc55984-84e3-4fe0-88a1-c518df26e5f0 CLINVAR:551588 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 38d65813-4822-40ec-9b3f-45c29296a595 CLINVAR:941268 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1848048f-f8ea-4292-867e-66701a984b8c CLINVAR:941268 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e31b8866-da38-4690-ba71-7a66a5d86490 CLINVAR:449935 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9fb28373-ff2c-4a0f-8ddb-131f5e30ad49 CLINVAR:449935 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bcd8e02b-4196-4139-a73c-690a1eb25ab6 CLINVAR:203597 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen cfa34fc6-8484-4ed8-bb22-f77d2d3e622d CLINVAR:203597 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e98b8525-97bb-4953-88ac-9bfe7608a8ea CLINVAR:617950 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ee84b9ec-a801-4774-a4bc-3d4c94fcf755 CLINVAR:617950 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 89158105-4924-4e3b-9dce-415b5c7d4ac6 CAID:CA367398695 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6e74c839-4d01-405f-8228-7f439c847b90 CAID:CA367398695 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e1545cc5-09f4-4aae-b233-7e961b303121 CLINVAR:36182 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c4b80962-9800-4410-a21a-79cc5f91a72b CLINVAR:36182 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4cd0e822-97ab-407a-be69-910e6d9b6802 CLINVAR:36181 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d9520166-0072-4099-a1ef-f395561ae113 CLINVAR:36181 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3b187b51-dce3-4347-b67d-b8bc8bb01aa3 CLINVAR:236014 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b5f9c50b-7e6f-42a2-9ffd-50b484fe4c8f CLINVAR:236014 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 495a2f1a-2d28-4920-b31a-2b96aa3aa0e7 CAID:CA367398735 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0f98ae3d-eb0b-4282-af8f-d5006f25d8df CAID:CA367398735 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c01b88f3-3d06-45b8-9d6e-32df63aa2a71 CAID:CA367398738 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6059f79f-433a-4212-84c7-ce240b87ff86 CAID:CA367398738 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5b70dbd4-d930-4d00-9ac0-37174974181e CLINVAR:39759 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4d3331d6-86d7-4a14-b040-5cd11897c9b1 CLINVAR:39759 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 47488680-f662-4cbf-99c0-517ca2ed81fe CLINVAR:1685327 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 517757fa-e74a-4961-a903-36faef828944 CLINVAR:1685327 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 05a85c07-b583-49ca-b521-3aba9626ae4f CLINVAR:16134 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 08739764-5cd8-4416-92fb-afef480e277f CLINVAR:16134 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bae1e9ce-d1ae-4b39-9b1e-cafe8e644596 CLINVAR:393450 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0ba667e1-c31e-4e34-9843-73345d23a207 CLINVAR:393450 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4fb69cff-3698-4a8b-883f-24a8bc709988 CAID:CA367400787 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d6add45e-4886-425c-8d8f-5e1c3c726c18 CAID:CA367400787 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a03f0bb4-fe44-4bdd-99ba-574917378e37 CLINVAR:447413 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 088eb4cd-1756-431b-be71-6349825d8ac4 CLINVAR:447413 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 80ad2a2d-53d4-45f1-80a0-04c849764147 CAID:CA367400788 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a3f4aa5a-ff49-40d8-aae0-a7cc4453e4f0 CAID:CA367400788 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b96c560e-a2d7-408e-a00c-c91191e79778 CLINVAR:585924 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 68e2a5b4-a8a9-4120-b953-18229e18fbf1 CLINVAR:585924 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 20b12bb8-b39f-41a5-a083-297de0a201fe CLINVAR:36241 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3074b3ad-ca70-4c57-a03b-a3897e9e0ac2 CLINVAR:36241 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3841cc67-74a4-4113-9740-893ab0e36630 CLINVAR:1704126 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c27060c4-c901-4219-acbc-11eea23f3ef9 CLINVAR:1704126 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f25ffe88-515e-4eff-a400-8ce9a2faada9 CAID:CA367402147 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 306ec2a7-825c-45a9-bbf9-3316ccbd30f8 CAID:CA367402147 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 342c3931-27ed-474a-abd3-d9275bc90a7f CLINVAR:690481 biolink:associated_with_increased_likelihood_of MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 011cf4bf-71b4-4f0c-bfb9-992a374b70ca CLINVAR:690481 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 13b72f14-aede-4f3b-b5ac-44368eb4ea80 CLINVAR:825804 biolink:associated_with_increased_likelihood_of MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c175d43f-e1af-4102-9c33-01ba4edff946 CLINVAR:825804 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a7a5d0f0-96a2-403c-8384-113ffe6c8c23 CLINVAR:480386 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 92ee67e9-a955-41b1-9f7e-bae7936fde61 CLINVAR:480386 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 23fdc505-2a52-49f5-b97f-1ed108c3024e CLINVAR:492727 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 10e9de28-c87a-4c5c-a7cb-566e0d1062ab CLINVAR:492727 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1dab7352-e495-4efa-8364-31af3495e486 CAID:CA377781872 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 45df3628-bbd5-4c52-bc44-6d0d884f4270 CAID:CA377781872 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4cb7676f-d8da-41bc-b093-f73006ac1e39 CLINVAR:936561 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 47a737f1-8dcb-4cde-ad1e-f505af800738 CLINVAR:936561 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8d5ad4dd-3f03-476d-93ea-4094313b3ae1 CLINVAR:1691744 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ef187913-d8d9-46fa-8d37-fc031cf99984 CLINVAR:1691744 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1856758b-f08a-4804-a365-26d383efa2af CLINVAR:1182096 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e05117f7-3b05-4932-aec6-474b60bb6d26 CLINVAR:1182096 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2cc938ef-7622-4497-a576-c0558427f953 CLINVAR:189481 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 96c7ed2c-583c-4cea-902a-d8deb7361992 CLINVAR:189481 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 677dfa7a-6889-4ab5-b91e-b9e972d3f131 CLINVAR:468680 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5dc367f3-17d2-4140-9894-abc339502748 CLINVAR:468680 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a9c3ac12-5a3b-4f3f-a3e6-92c3d5a0c817 CLINVAR:967900 biolink:causes MONDO:0000572 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3707ad1b-7ea6-4ae7-afa6-951dc8f081b0 CLINVAR:967900 biolink:is_sequence_variant_of HGNC:9831 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ad261418-b18e-4171-95a1-805f6d42cee2 CLINVAR:13141 biolink:associated_with_increased_likelihood_of MONDO:0000572 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen fdd711d7-c26a-4333-b882-2c3daf87d89c CLINVAR:13141 biolink:is_sequence_variant_of HGNC:9831 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9e6ab46a-1942-4be5-b02c-d9a3591ac5ef CLINVAR:2019436 biolink:associated_with_increased_likelihood_of MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9c4d8650-b419-448d-8c5a-9af33217f228 CLINVAR:2019436 biolink:is_sequence_variant_of HGNC:9832 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen da99b149-1594-42ba-b90e-c8d2d25d5120 CLINVAR:936307 biolink:genetically_associated_with MONDO:0000572 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen aafcc7a8-4c65-43fb-9b35-2bd41de37be8 CLINVAR:936307 biolink:is_sequence_variant_of HGNC:9831 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ac7c7c23-b356-47ce-9c90-e3aed92381de CAID:CA367402227 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 11a7b296-618b-4073-9d65-e627fd6e8fb6 CAID:CA367402227 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 09ddd578-3c6b-4a40-9b66-bc3612b127c6 CLINVAR:435307 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b96fb996-a1fe-43fe-81eb-3ded7f8ac975 CLINVAR:435307 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a8803ea6-a2e1-438b-9718-1df1ff3147c8 CAID:CA915940582 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1fb31ace-c392-4639-9bd5-c2fd5436d7a4 CAID:CA915940582 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8bd52f89-49a2-41a6-a459-5263fdd721b7 CLINVAR:323558 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7fb96c29-b692-442f-98d2-063e5f911df0 CLINVAR:323558 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 39805594-c8fe-42a1-a3af-d15752b8918e CAID:CA399805605 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 97cece80-bb56-4ba0-943b-16b1885c64f9 CAID:CA399805605 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 00377c7d-1191-47e4-8abb-d07257012c09 CLINVAR:892303 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 67ab605f-3f94-431c-a90e-bc7d39f7d9d0 CLINVAR:892303 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 398b8429-934a-4ada-b16b-4ac91aefe932 CAID:CA400021913 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 933bd9ba-4a16-44e9-8f7f-86fa923c4228 CAID:CA400021913 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0b006a67-2e31-4733-9ca4-edfb94d8530b CLINVAR:891087 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen cdd86a69-ac88-4fa0-8cbe-cb0e27ca8e7c CLINVAR:891087 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a6a26fab-73d3-4bd4-9fe7-b261219b4d11 CLINVAR:627063 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 74d13d45-2429-4bfc-bbd9-76ca4bfbdf44 CLINVAR:627063 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2d1431da-2352-4d67-937f-df4d76007d16 CLINVAR:654335 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 629a2453-43eb-44d7-84b0-7784e90118e1 CLINVAR:654335 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fcf145a1-ad2b-425f-a42f-175dbb85e12f CLINVAR:952576 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen aa3369e5-a7dd-4a73-b025-02b46b5d68f1 CLINVAR:952576 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f057c43b-e0ab-42ed-804c-c15a6d6e1e54 CLINVAR:4673 biolink:causes MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7220bb1f-647d-4713-b715-079da5c0179b CLINVAR:4673 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 00a35edb-ce38-4e57-b3af-bc7ec21e4c90 CLINVAR:1322192 biolink:causes MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a52563d4-fcb5-4852-a3e9-f96a8e3d375a CLINVAR:1322192 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2aa88ab7-fcc5-4265-9953-03ccb89f75d9 CLINVAR:657472 biolink:causes MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1e4355bc-d50c-413d-8798-1ff4e257054f CLINVAR:657472 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 56898a53-498a-4920-b855-7a3ce4e30971 CLINVAR:2136850 biolink:causes MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b26f3b2f-eefb-4935-9abd-fa0033355d98 CLINVAR:2136850 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c6e0b2f7-5077-4767-a38f-bfec204134e9 CLINVAR:852821 biolink:causes MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b0b7a1d7-3a45-4a0d-a4b8-580e85fc9931 CLINVAR:852821 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c08b9131-91b5-46ae-8a6d-7e46496ddae4 CLINVAR:2150998 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3e44eedf-29b2-4834-a427-3e96edb0ea04 CLINVAR:2150998 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0e41b33b-d740-4a3d-9de5-98a4c6c7c522 CLINVAR:1041357 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 195ea2c3-b2d4-4c67-8e00-93c9ccfcc919 CLINVAR:1041357 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dadeec80-0490-4fda-8b00-7b3806b24b0a CLINVAR:556878 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 62a1efc9-45e1-4def-979e-e7e7713169cf CLINVAR:556878 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a7158003-9a74-455a-89d7-7decc5b745c0 CLINVAR:225196 biolink:causes MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 49345ff3-5e71-4f52-88aa-d550dd1ad95e CLINVAR:225196 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c15fde73-7e41-4a3b-ba36-7bad860cfde2 CLINVAR:225194 biolink:causes MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ce28c33d-898b-4d09-a586-a6555a8ee45a CLINVAR:225194 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 647b6544-ae21-4364-bc3c-f3a7fb6e62eb CLINVAR:947759 biolink:causes MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6463c82a-3f5a-4d90-a51f-ab24315783a2 CLINVAR:947759 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8240733f-ab31-46fa-a5cf-a2c9e9bb3ed9 CAID:CA413496512 biolink:causes MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5d959c3e-1d69-44e1-ba00-590d282f2017 CAID:CA413496512 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aa3baf30-2bcb-45f5-8a5f-694958179141 CLINVAR:3028906 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 473be6f0-8278-42bc-9980-efa7fe9979ef CLINVAR:3028906 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cb4c0c6a-cd87-4dbd-82dc-39e83a0a47e7 CLINVAR:3028907 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9c906b8a-ffb3-4957-b57c-77c328a4a207 CLINVAR:3028907 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d331698d-b2df-4042-84f3-f914cfd535fc CLINVAR:585919 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 340196dc-245f-48e7-829f-5bddad1bc3af CLINVAR:585919 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 42044905-80cc-4fc6-80ef-7ca5e23622cc CLINVAR:973191 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 34347fc1-921b-4305-a14b-b540979e5982 CLINVAR:973191 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1f9ca1bb-ae09-4335-856c-f8a3da1a255d CLINVAR:447397 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen fcabdeec-faf2-4b63-be29-66dce85ef260 CLINVAR:447397 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 19efa367-af09-4654-a4dd-a6304c259c22 CLINVAR:522504 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c0ae1550-86ea-4296-a3e9-56ebd92aa859 CLINVAR:522504 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e0ae5294-4cc8-4be4-a946-41a7213a9997 CLINVAR:162369 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b42c3913-8a61-46b3-aea9-f87b84e20de9 CLINVAR:162369 biolink:is_sequence_variant_of HGNC:7475 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 679cca8b-cb82-4caa-a2a8-2be535f760fc CLINVAR:9654 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f29a0e71-f66d-440b-8bd8-45cae272c31e CLINVAR:9654 biolink:is_sequence_variant_of HGNC:7422 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 598d4add-c968-4b40-b9f0-48305c5f9f34 CLINVAR:9669 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2c7fef1c-7a6e-40e5-87ad-5dac3c8bded8 CLINVAR:9669 biolink:is_sequence_variant_of HGNC:7419 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6e3b8f8c-4745-44b1-bd9f-76086b0d11fd CLINVAR:9668 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3a5b8a50-17ac-4084-a133-0e527550a8fe CLINVAR:9668 biolink:is_sequence_variant_of HGNC:7419 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 69e887a3-9e98-4129-9875-0f60f227266d CAID:CA367402547 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b1f6c5c1-e634-4752-8c38-a8c9a4d3065a CAID:CA367402547 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f54e6a8c-c4ee-4d05-b8b1-c4bf39be2384 CLINVAR:407115 biolink:causes MONDO:0008535 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 03e8a696-e42b-4593-bd5e-7e1029992164 CLINVAR:407115 biolink:is_sequence_variant_of HGNC:3349 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 58c2f470-bab1-4d21-912c-f6fa9b0514df CLINVAR:435060 biolink:associated_with_increased_likelihood_of MONDO:0008535 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f7cc2740-adeb-4a3d-8a72-72364e86a328 CLINVAR:435060 biolink:is_sequence_variant_of HGNC:3349 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 45951444-d1ad-4360-889b-9b02486c0ffe CLINVAR:282707 biolink:genetically_associated_with MONDO:0008535 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f8d1b545-7648-44e2-a102-55446c5bf747 CLINVAR:282707 biolink:is_sequence_variant_of HGNC:3349 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 89ed8151-bfd9-41e1-a5f9-8957e069a666 CLINVAR:458346 biolink:causes MONDO:0008535 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4ca96fe7-98c1-4cd0-8aa7-666395a55359 CLINVAR:458346 biolink:is_sequence_variant_of HGNC:3349 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7a0b318b-fa0a-4d83-a582-318445cbbd11 CLINVAR:618625 biolink:causes MONDO:0008535 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f5cefccd-c4e6-497c-92ae-8b963754eda2 CLINVAR:618625 biolink:is_sequence_variant_of HGNC:3349 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2b5db422-caf7-4288-af3f-d6b072c039b5 CLINVAR:1352569 biolink:genetically_associated_with MONDO:0008535 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2cbf7162-039a-40ef-a9f4-eef98f57176b CLINVAR:1352569 biolink:is_sequence_variant_of HGNC:3349 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 19b502d5-f676-409b-a415-8fe329b99a12 CLINVAR:426118 biolink:genetically_associated_with MONDO:0008535 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d8dfb9fa-46a6-4311-82c9-dbcf13c5f297 CLINVAR:426118 biolink:is_sequence_variant_of HGNC:3349 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5e123734-a872-494a-a85b-37c05926ed11 CLINVAR:565574 biolink:genetically_associated_with MONDO:0008535 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b8f55ecb-84db-4340-b558-036e9ce6a845 CLINVAR:565574 biolink:is_sequence_variant_of HGNC:3349 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e490b51b-6fa9-4060-b9b9-bfe15147cc14 CLINVAR:414302 biolink:genetically_associated_with MONDO:0008535 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f8ebcb80-ae46-43bc-a108-87665575d1e7 CLINVAR:414302 biolink:is_sequence_variant_of HGNC:3349 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen de5ad329-dd3b-48f1-a7ea-3744a3b67189 CLINVAR:8243 biolink:causes MONDO:0010880 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ceac2425-de10-485b-bdfb-f3effaa2003d CLINVAR:8243 biolink:is_sequence_variant_of HGNC:175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 69f08180-bd6f-4877-ae9b-e447edb1898a CLINVAR:1744752 biolink:genetically_associated_with MONDO:0010880 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e54408aa-8a62-4547-9e3b-d5371f23cfc2 CLINVAR:1744752 biolink:is_sequence_variant_of HGNC:175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1f4a81cf-d144-40d9-893a-ed4111d62eb3 CLINVAR:811065 biolink:genetically_associated_with MONDO:0010880 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 169792dd-5423-4e5e-bf4d-c2e10fe3a243 CLINVAR:811065 biolink:is_sequence_variant_of HGNC:175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 46d1d643-aad6-4559-bb1e-c7c9ac68900e CLINVAR:657805 biolink:causes MONDO:0010880 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 924f15c1-a75e-4cf5-9a7f-b7600f9a5306 CLINVAR:657805 biolink:is_sequence_variant_of HGNC:175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2880d1c1-4809-4d0b-8e60-e10765d5dd77 CLINVAR:994236 biolink:genetically_associated_with MONDO:0010880 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 05f261f4-fd90-497b-a375-97987fcdd0b3 CLINVAR:994236 biolink:is_sequence_variant_of HGNC:175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f42e636b-3cbd-48d3-b98b-f6c68f3514ed CLINVAR:848699 biolink:associated_with_increased_likelihood_of MONDO:0010880 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 310a1050-0993-4b4c-9023-49dfe2d2dd1c CLINVAR:848699 biolink:is_sequence_variant_of HGNC:175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9fbb96d8-7748-4ec4-83a6-0a1953bec9b1 CLINVAR:212802 biolink:causes MONDO:0010880 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 40616c8e-b8a9-4f0d-aaf0-ec7dcaea47bc CLINVAR:212802 biolink:is_sequence_variant_of HGNC:175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 63c143f9-e7de-4d24-a45f-343d8f956db9 CLINVAR:1948619 biolink:genetically_associated_with MONDO:0010880 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0510a911-9e1a-49c1-b788-e723ae724944 CLINVAR:1948619 biolink:is_sequence_variant_of HGNC:175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1d3b9077-8ff2-4d98-ad52-6600fe8d212d CLINVAR:411300 biolink:causes MONDO:0010880 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 19ba8b19-27e8-484f-95cb-10502f3d93db CLINVAR:411300 biolink:is_sequence_variant_of HGNC:175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7e71ac26-d7b4-4acc-98ce-d1ab3321c8bb CLINVAR:426040 biolink:causes MONDO:0010880 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen db17617e-34b7-4d54-97a7-dbba348d0c32 CLINVAR:426040 biolink:is_sequence_variant_of HGNC:175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ecf2d995-c864-492e-a927-84af5f2da40e CAID:CA605238909 biolink:genetically_associated_with MONDO:0010880 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b75e75f9-0d26-4b6c-a51f-28fe1d8cc873 CAID:CA605238909 biolink:is_sequence_variant_of HGNC:175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 03795593-71ae-43df-a1cb-c56453152297 CAID:CA2740089968 biolink:causes MONDO:0010880 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1f25f4ac-3e18-4e06-8398-1f5c3487cd2e CAID:CA2740089968 biolink:is_sequence_variant_of HGNC:175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b8a74737-3bbc-4ac0-91db-227712b31831 CLINVAR:237027 biolink:causes MONDO:0008535 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a62fb383-7dc9-41a9-ab30-c84dc0083a0d CLINVAR:237027 biolink:is_sequence_variant_of HGNC:3349 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen beed8640-ef93-4c82-9b70-1c1cd470eaea CLINVAR:9664 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 10f71ebf-7c26-4b25-a94f-c9aaa157fc5a CLINVAR:9664 biolink:is_sequence_variant_of HGNC:7419 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 05d374ee-1707-41ef-816d-5f3745421037 CLINVAR:800503 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4d0b551c-69e5-475e-a070-dcd3a3e22535 CLINVAR:800503 biolink:is_sequence_variant_of HGNC:7462 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 213a2e0b-8b78-4a2e-9836-3f9687b96b71 CLINVAR:9686 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen db3c3a10-182f-4540-b49f-ced8e88add9f CLINVAR:9686 biolink:is_sequence_variant_of HGNC:7427 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a0971719-bdb9-4ea8-8d18-92908cadb4a5 CLINVAR:693440 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1b4d1793-5b25-471d-9942-b4dd59e74a90 CLINVAR:693440 biolink:is_sequence_variant_of HGNC:7461 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 218b6c07-a7ad-42cb-b150-601ac2eb2ca8 CLINVAR:156375 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 51c6a434-5d52-4281-bf19-1496b3b4c439 CLINVAR:156375 biolink:is_sequence_variant_of HGNC:7458 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c6d73a53-a399-4778-be4a-9095d1972329 CLINVAR:9604 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 08e8d5be-54b7-4604-95dc-29089cb3b942 CLINVAR:9604 biolink:is_sequence_variant_of HGNC:7488 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fbd1b849-19ea-46f1-b7fe-bcf9655001e4 CLINVAR:690169 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a021f6f5-f7ce-4fe9-ac24-bc171eb830d9 CLINVAR:690169 biolink:is_sequence_variant_of HGNC:7498 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e5853b97-c46b-4a98-9dc5-acef908a24bd CLINVAR:690161 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 177461ce-6658-4906-ade5-08376af5a2f8 CLINVAR:690161 biolink:is_sequence_variant_of HGNC:7498 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4109606b-2763-4ec2-a435-36590caf1dd4 CLINVAR:376098 biolink:genetically_associated_with MONDO:0012163 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2e841b69-fbb8-4860-b289-3085362948f1 CLINVAR:376098 biolink:is_sequence_variant_of HGNC:6024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4b3d3597-eafc-4eb5-a3cb-2153f4561b21 CLINVAR:451690 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2e8b1ed6-0e5e-426c-a1c3-9e1214635e51 CLINVAR:451690 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b4366b4a-0617-4d6c-a0b9-530d04650c41 CAID:CA367402001 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1a20eec1-7df0-48fe-9aa9-79498a918606 CAID:CA367402001 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2a5d294e-0d25-4bc4-bbcf-263bf5266513 CLINVAR:36218 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 39eb7756-d60b-4e5b-b07e-44af394ab6bb CLINVAR:36218 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b6075b10-c637-47ab-b251-1f8c5c89ac94 CAID:CA367401942 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9c65b705-4812-4a2e-a8ad-105a9215c050 CAID:CA367401942 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a404100d-0dbe-48c3-9009-3becb251e591 CLINVAR:3066429 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e2f7f7be-2639-433a-824f-555f959e466e CLINVAR:3066429 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 09092ca8-af7d-4002-8ead-5c17019e4368 CLINVAR:3066438 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ddcc9293-c39c-46a5-9c42-02681091d9a4 CLINVAR:3066438 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6f2ed6ce-8330-4ee8-b93b-1b195667f8ea CAID:CA2695201729 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 56fd136e-1712-4946-8773-61c1d1bcf402 CAID:CA2695201729 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2bd4fc36-ed1f-4063-b78f-57c05e11bcf6 CAID:CA415079810 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8e40da33-aace-4f9d-a0ac-9019999819db CAID:CA415079810 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2758b610-b83a-48ed-9510-743ad50b052e CAID:CA2582121421 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e650539b-154d-47ab-888c-3d027d39de57 CAID:CA2582121421 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c27f61b8-3253-439c-bd0f-f463142cd90d CAID:CA2582121298 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7dd17924-0c5c-4068-bba3-5b61bed4dc72 CAID:CA2582121298 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5baf325c-60d9-4ea5-81dc-919cf9d9154b CAID:CA2582121175 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d04a06d1-975b-45dc-8ba1-1544c49df1e5 CAID:CA2582121175 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dcb25111-3b87-44d8-b914-28b959842fd9 CAID:CA2582120572 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ffc54f82-fedb-4952-8d30-656170adcd84 CAID:CA2582120572 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 752b27e2-495f-4281-8f6c-2f4eaeee6cd1 CAID:CA415083182 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen bd5affb7-9259-47d6-a79b-ada3d6898392 CAID:CA415083182 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen abe8a4e3-6154-4e24-95b9-1c2435a413f0 CAID:CA2582130583 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen dade5811-a182-47a0-be63-6ffa229c9755 CAID:CA2582130583 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 01b1fb0c-826e-44f2-8c35-35f043dd48d0 CAID:CA337220546 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0020b315-dbf9-4ad4-8b47-f8578e5110d7 CAID:CA337220546 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2645e832-9637-47c5-87da-d03b030e13bb CAID:CA415090852 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 306d70c7-f37b-439c-a24a-327f882602c8 CAID:CA415090852 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5513c94b-a3c9-4862-999b-ded8696aa6ef CAID:CA915940480 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 297b55a5-6f1d-4bdd-9584-41f4e1b1a4d0 CAID:CA915940480 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 02457e27-469b-48ce-9054-b445f6f0e9c8 CLINVAR:11704 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 05a070c8-a27d-48a4-bcb2-50e33f621509 CLINVAR:11704 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1d57cc84-d9d1-476b-8e91-a2ba3ce36be0 CLINVAR:1303056 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 883cae12-f35f-4590-8b79-417a8ef9f9aa CLINVAR:1303056 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6df68028-1532-4743-b014-2911ef111313 CAID:CA415084403 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c62e3117-9e93-42a0-836e-9550f8f4cd26 CAID:CA415084403 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ee98da08-0bed-4a57-923d-f595bd439d30 CLINVAR:2138757 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0c970549-1995-480b-ad91-d8518797847d CLINVAR:2138757 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 18d9c300-fee6-471c-9b14-6ea1547b4a7c CLINVAR:92288 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d8f016a3-17d2-42df-8133-aeaaa7aeacb2 CLINVAR:92288 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d679d08e-f6ac-4166-b7a9-ce6624ad41bb CLINVAR:432108 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f619c818-cb0b-4b07-9892-2a99d5bf1dc5 CLINVAR:432108 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d3d6a255-0688-4b89-9689-ac723b539b6a CLINVAR:426278 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 357a2dc9-497b-4f57-89b3-f45e0bae9207 CLINVAR:426278 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a037f41b-ed3b-4f5e-aa08-06c97f655c7d CLINVAR:92472 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen bfe01aef-4343-4fce-9ab3-97a6e6c3887b CLINVAR:92472 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 598c2b5c-451e-4390-b153-ae971d38a5a4 CAID:CA401366522 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 83aa8166-469e-4e3e-a7a1-b5d4cd64a28a CAID:CA401366522 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0bcb34c9-14c5-4e9b-9296-a28dc813bac5 CLINVAR:1695383 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b912d15d-712f-40ea-be2e-5af87862dc3b CLINVAR:1695383 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 236bc4a0-9092-4edb-8a0e-3e05f49e51fa CLINVAR:1363605 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3798ef2a-df2a-4848-9b36-38a3f7ac6119 CLINVAR:1363605 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8278743c-e40f-48b9-94e2-842f03755dc6 CLINVAR:1897839 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 66399d40-d3ee-4999-b9d5-21f895ee1e0e CLINVAR:1897839 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0ca09f55-5835-4286-8252-d72ff5e7b345 CLINVAR:2024194 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 910503f7-0798-47e4-b7f3-7c9b94bbd51f CLINVAR:2024194 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 423603c6-e453-4faf-8f60-9a9421b0a2a6 CLINVAR:2018650 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 59120c9a-c423-4353-9c76-c61a2d933283 CLINVAR:2018650 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a729d507-b327-49b4-a62f-07a78c7968b9 CLINVAR:1996224 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e0eea70a-1d2e-4527-808f-ef10b7d1f68f CLINVAR:1996224 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4167bfc0-34ea-42bd-8cfe-01951fa2cc53 CAID:CA1139771135 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2e77a322-c9dd-4a2f-a8e8-9bb991ba85da CAID:CA1139771135 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eb45b88e-dcfc-41c9-b66c-4458566026ee CAID:CA410203348 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 74101552-fe06-466e-9d97-262e7f392645 CAID:CA410203348 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 427fc97b-eed0-4f11-8b06-884cc62a116a CAID:CA1139771058 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5763d6b7-c59f-4f03-b146-56a3d1d0ce5a CAID:CA1139771058 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9c21b0b9-4bcb-4cac-8f76-a810c12ba1c7 CAID:CA1139771067 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0fce0fef-a8a1-469c-a02c-9f4f75e52989 CAID:CA1139771067 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 323d0ddf-73bf-4bb8-b26a-0bd016ed5239 CAID:CA1139771059 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 27fc9c71-93d5-4e3b-b763-6ac8d86e556b CAID:CA1139771059 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 535abd63-41c7-49ec-b3a0-e0ea9554019b CLINVAR:972746 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0d518d60-15e5-4649-beeb-0acb7c29d8bb CLINVAR:972746 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4418be94-5ac8-4e7b-9856-4e3ee28f9c7a CLINVAR:371277 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d3180aa4-5435-457d-b897-41fd313db41e CLINVAR:371277 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c28b954e-9d74-4547-887f-a765c7567f1d CLINVAR:1219617 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen deb5c142-7d61-4ae8-9edb-e8abcda64e8e CLINVAR:1219617 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a674d2e6-8b6f-498c-8450-b0c3b31946ce CLINVAR:555998 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f3bfe222-bb5f-4b54-ab67-615b5d7db892 CLINVAR:555998 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b29d5877-e337-4684-9bda-b4cb29f400ed CLINVAR:370278 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 21bf0ba2-bdba-4cb7-9dda-58525f40b6c5 CLINVAR:370278 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 04587f46-c282-485d-b081-cd60899d5b3d CLINVAR:692768 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f8c25007-2b2b-42f4-9df3-620f6c0cddce CLINVAR:692768 biolink:is_sequence_variant_of HGNC:7421 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9787dc93-c4bd-4888-b4b8-496521955b6b CLINVAR:42227 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2ca080f3-df3a-4944-9a2a-23b0791d1fa2 CLINVAR:42227 biolink:is_sequence_variant_of HGNC:7497 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fc8e2d84-ba98-49aa-a204-813cad54c1bd CLINVAR:9719 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 405c2c06-b662-48b7-ad1f-754b483c0cd6 CLINVAR:9719 biolink:is_sequence_variant_of HGNC:7456 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7abc2afd-e3ec-406c-9a68-a4bfa6ce9b9c CLINVAR:9697 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 93ba3eca-f813-4ea8-858b-bb8d61797e56 CLINVAR:9697 biolink:is_sequence_variant_of HGNC:7461 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8bfaf9d9-82cf-4a49-baf9-b93c5e7448ad CLINVAR:550716 biolink:associated_with_increased_likelihood_of MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9170c805-fba7-4967-83f6-342d7e4af974 CLINVAR:550716 biolink:is_sequence_variant_of HGNC:4284 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a22b2aba-82e4-4c06-9c9c-2f2902106c0e CLINVAR:188480 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 342d25f0-76ab-41c8-b635-66d4b0130ea0 CLINVAR:188480 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5ab3c907-509c-44e1-9460-898fab817e92 CLINVAR:971945 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen dc6ae4b8-0adf-402d-8f4b-a006c3fd4b5b CLINVAR:971945 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 04e6b2ba-34c2-4982-82e2-83828f382cb6 CLINVAR:280956 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b7d4c1cb-5fa0-4880-8532-088f143d1008 CLINVAR:280956 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 95a91b97-c993-48c4-9e2f-5279a5416b0c CAID:CA415088272 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e1fd64da-1c1b-4287-b5cc-c71f95e4ff04 CAID:CA415088272 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9a356743-0e5b-49ae-a3eb-fd3d95582a75 CAID:CA645287847 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 798e47d2-8874-44d3-8139-50d1b2b3c6dc CAID:CA645287847 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 76892fd3-4afb-4e83-93cd-158a5794da2e CAID:CA2582131482 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8d7a0e04-0c63-4860-a3ab-9520ecd5c3ce CAID:CA2582131482 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a6af8749-0f4a-45ce-8e92-292aee334210 CLINVAR:44729 biolink:causes MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen eb405f08-bbff-43bd-a6c6-a3bc098f2291 CLINVAR:44729 biolink:is_sequence_variant_of HGNC:4284 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ef9ce0a4-47a3-4161-b085-98638d95f5e4 CAID:CA415077715 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e07b9e7d-07fb-4132-a9a9-be291f728257 CAID:CA415077715 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e8eef2cb-f4b4-40bb-a103-b778d3c01b80 CLINVAR:2290132 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7d8ed11e-7b77-4ed2-a7f4-d407063ad49e CLINVAR:2290132 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b2f41171-e500-4265-b539-db1a1842e7c6 CLINVAR:551915 biolink:causes MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0386be9f-70bb-4c66-bba5-c1d25019b54d CLINVAR:551915 biolink:is_sequence_variant_of HGNC:4284 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0dbaf9b6-627f-4450-8146-c61d1b01710b CLINVAR:2070085 biolink:causes MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b1649789-a8fc-4c9d-a4a9-3b0dffe7cb10 CLINVAR:2070085 biolink:is_sequence_variant_of HGNC:4284 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 18331050-56c6-4ae4-896c-b36116301783 CLINVAR:3066433 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 98713a07-f801-498a-8a0f-c611837879c6 CLINVAR:3066433 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a1638ce3-1f95-4cf0-ac6a-0b0b95b21cff CLINVAR:11697 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ac5571cc-0177-4aa0-ad98-fbd4d1767843 CLINVAR:11697 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 86a50e45-716c-44fd-bb45-600ba97e528a CAID:CA415086358 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a7353a36-4a4f-43f0-a7e1-78b0832b4944 CAID:CA415086358 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c2f3e087-6f16-40f8-9cf6-f925cecd820a CAID:CA415086460 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 61822c79-f0ba-48e9-b7bb-14be94d22dac CAID:CA415086460 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 493f875c-afe6-454e-b424-23f0fdacdead CAID:CA415086677 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c206b913-1d06-4bec-ac4a-87e590c2513e CAID:CA415086677 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bf23503c-4f3a-49ef-b6bb-3dc1c03619fb CAID:CA415087081 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 35652836-fc61-4357-8cda-165d150abaa6 CAID:CA415087081 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 983f60a2-10cc-4843-9410-1a7d14507155 CLINVAR:3066439 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 967cecb2-10dd-410c-bda0-37307bbcad17 CLINVAR:3066439 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen af54abfa-321a-4359-a102-ae0d98e8d9f0 CAID:CA519344969 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 22e43c98-db84-4124-9ddc-a1f1969efa06 CAID:CA519344969 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8904e4fa-5bce-40a8-afce-0ad039dac34c CAID:CA2466438179 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 75ca45c0-1fad-4a2a-8d3e-26617969a046 CAID:CA2466438179 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fea5f9c3-f81f-46e1-a8c8-79a45ffc3281 CAID:CA415086699 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2ac8c770-0e4c-4def-a011-4a40cb2c7af5 CAID:CA415086699 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 70838ec3-6139-437b-9c19-999d1b2ce406 CAID:CA2580617569 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f323a453-fd93-4d6f-abdf-8fc71c51338f CAID:CA2580617569 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 217dddab-f848-4858-b763-56baba75b7f9 CAID:CA415083128 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1d016f19-3125-46fb-8529-7184ed2cb27d CAID:CA415083128 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 18bb88d6-ccad-487e-b586-3bdf06d3afa7 CLINVAR:804101 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 75091dee-33d7-4929-97bf-b24b6f2e90aa CLINVAR:804101 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 47f576f0-e0cb-49fb-b7b7-d797c85826d0 CLINVAR:1802549 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0538f795-9031-4d74-a138-18d9b5305e7e CLINVAR:1802549 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9e024cc6-13cd-4e27-b67c-41ff8c4cd55a CAID:CA415077156 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6bccba99-026f-4a63-b2b5-6c8a7dfe7972 CAID:CA415077156 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 01f4a4c1-38a1-4141-818c-2a74a893514a CAID:CA2579985607 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d358c16c-0948-4ebd-a638-38dd111d7a9c CAID:CA2579985607 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 66f5821a-9d77-4bdf-8072-09a53bfb4f6a CAID:CA415075833 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fcbe2235-e524-45e5-b2bb-814d0719d82c CAID:CA415075833 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c9a2a581-ee8d-4676-a929-528facb96aea CLINVAR:1256306 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a1f80133-7ae0-4cca-8ba6-c9b66d013168 CLINVAR:1256306 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bd568210-b58d-449f-a52e-297a7190f4a8 CLINVAR:585920 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 864491d4-ab65-49c9-ba81-88984da00ab6 CLINVAR:585920 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e7cdd20a-dc53-4477-83e3-929cce765e52 CLINVAR:585907 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a08ffa5e-20e7-42f5-99da-c272ab3380a2 CLINVAR:585907 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 44de9dd1-6aee-4b11-873b-ed3008c33278 CLINVAR:447378 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 33b8f2c7-ee81-442b-ade7-8d46525813c2 CLINVAR:447378 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7fce3bdb-c0b7-461a-96a1-d2717d031a35 CLINVAR:36170 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ef20f903-31e4-4243-aef6-e50183cf67b8 CLINVAR:36170 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 66f4a7e6-d337-4d3a-9b59-e902f0a6879e CAID:CA367400138 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 74faf0c5-e3ac-460d-a165-c144f3e29dac CAID:CA367400138 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cafe0af5-f827-43ef-afed-cdafb7b0f6b6 CLINVAR:393447 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen fbf95996-12bb-465f-820f-2dd56f449a83 CLINVAR:393447 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d6c324ae-efa6-4986-b203-6c974b4f1fb2 CAID:CA367396861 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 85f9badc-bf71-4dba-a61b-4b1248b7d0ba CAID:CA367396861 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b95b6dc1-daa2-4394-ad35-97b86d482bdd CAID:CA2740067583 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 65fee99a-a854-4acd-a8a6-d394ddc6d55b CAID:CA2740067583 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fbe9baa3-eb0e-4579-a60d-afdc3530e49a CLINVAR:1683587 biolink:genetically_associated_with MONDO:0012163 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen df0ae2de-8a03-449e-9fbf-197acfaf70d5 CLINVAR:1683587 biolink:is_sequence_variant_of HGNC:6024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 590755b2-f3b1-4975-b12e-ce34eb241825 CLINVAR:800346 biolink:genetically_associated_with MONDO:0012163 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c35fc395-c41e-4482-8578-f365fce75a9f CLINVAR:800346 biolink:is_sequence_variant_of HGNC:6024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dec1421b-068d-4a24-82e0-a32668f154b4 CLINVAR:496628 biolink:associated_with_increased_likelihood_of MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4dd6d379-44f7-4df8-b0f0-1a8885f8dafc CLINVAR:496628 biolink:is_sequence_variant_of HGNC:9832 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0bc900b0-cf45-4dbf-9882-9246af49d11c CLINVAR:36718 biolink:associated_with_increased_likelihood_of MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1281d0a2-39a9-420a-be64-889ff4c68834 CLINVAR:36718 biolink:is_sequence_variant_of HGNC:9832 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b4ba35fe-06c4-4b24-9cc6-8fd974e9e3ef CLINVAR:36717 biolink:associated_with_increased_likelihood_of MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6a5f1dbf-5fcd-459a-9f93-a58823e6d7e5 CLINVAR:36717 biolink:is_sequence_variant_of HGNC:9832 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6dc841bc-afba-4563-a2e9-3ec940185305 CLINVAR:304553 biolink:genetically_associated_with MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7753a1da-c890-4417-b641-77306f4cd746 CLINVAR:304553 biolink:is_sequence_variant_of HGNC:9832 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 228de294-a6b8-4a3c-83f2-f909e45a412a CLINVAR:496624 biolink:causes MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1b8d6bcc-acd6-45f8-b416-8463f0801d40 CLINVAR:496624 biolink:is_sequence_variant_of HGNC:9832 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen df5372ed-31bb-471f-9f41-69fc54ba8ac8 CLINVAR:971474 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 315345c3-0669-4e5e-b3d2-a6dc85ecaeee CLINVAR:971474 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f12e415b-d595-47e6-8c5a-3c47c5ad3189 CLINVAR:1015912 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3e6b21aa-a7c6-4f86-8e5a-c2e51a0a1b18 CLINVAR:1015912 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8e491412-144e-4fe0-8f37-7b1c4ce3599d CLINVAR:1035293 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 42eae56c-2afd-4039-8e37-b975a78909ce CLINVAR:1035293 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a5b9b344-1eb0-4419-ad8e-411193b589c6 CLINVAR:661326 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e41ced03-a9b9-4b73-81d9-19174d10bc06 CLINVAR:661326 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f43b8b97-6bc9-413e-bb4a-f5ffb045fed4 CLINVAR:2062424 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2c2fd06f-a8b7-44de-ba0e-296d8cf6bbdb CLINVAR:2062424 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ba43c5bc-dced-4e32-8a79-6f6c294f3902 CLINVAR:958156 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d44fa759-7f6f-4bcd-9d13-10216e838628 CLINVAR:958156 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 422c5a26-2277-419f-80a2-915ea9d6f524 CLINVAR:1936229 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 543bb0b2-b5fd-49d9-81e7-3d585157511f CLINVAR:1936229 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d8535b95-148a-46bf-9dbc-5f3dad83e723 CLINVAR:1199335 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 54ecd20f-5de8-4266-9aa3-1f1c2ae2e2d0 CLINVAR:1199335 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3a953783-2f60-4786-aeab-c3c3ec13fac4 CLINVAR:860679 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 047ec24c-f31a-4c55-95b3-3dcd267984e2 CLINVAR:860679 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 76d56c06-91dc-41a4-9192-dca6f58f68c4 CLINVAR:9723 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 74a48706-ef58-4673-9cf7-1f2429498bbb CLINVAR:9723 biolink:is_sequence_variant_of HGNC:7455 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 00d88519-8fda-4ec5-a73f-f5f5fb450449 CLINVAR:2138345 biolink:causes MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 82eea925-1779-4b97-8365-3afdf06d3baf CLINVAR:2138345 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 91ae8b7d-57ce-4c12-96d7-8eb6f2ed82b0 CLINVAR:134574 biolink:genetically_associated_with MONDO:0010938 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3e90c66d-d88d-4188-96bf-30a60b8e5a7d CLINVAR:134574 biolink:is_sequence_variant_of HGNC:6193 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 31988b6a-66a8-4423-a649-42ffadcce158 CLINVAR:1406981 biolink:associated_with_increased_likelihood_of MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 309893da-bec5-49ac-a2f0-cea69d2244ea CLINVAR:1406981 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3c75993b-fde0-4eca-a8da-c36cd2ef6acb CLINVAR:1068640 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f2f95a6a-b881-44d7-8429-e824088bead3 CLINVAR:1068640 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bf95e60e-8028-4f80-971c-ef9aca3511b0 CLINVAR:714463 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5c274ca4-dbec-4c1b-b093-f306a5916864 CLINVAR:714463 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 24a98e92-25b5-46a0-aea4-b469416694b2 CLINVAR:994900 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 112d2c1c-b259-485d-b4db-a592cd3854e9 CLINVAR:994900 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8324676b-55d6-4d9b-b3ff-bf7769ba63ae CLINVAR:524154 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8fd0047f-89a6-48e6-ad85-4343a4a99591 CLINVAR:524154 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bc4ff083-692a-48c2-afc8-8719f10cd45f CAID:CA9870171 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 73e4b170-4900-4e6c-808b-116767065939 CAID:CA9870171 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 45093e0c-c023-49aa-9a89-79b933a87fc5 CLINVAR:156152 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 86b152ec-bdf4-4718-b42d-919178497afc CLINVAR:156152 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aecda631-7fd4-4615-a99f-56d1c54dd09c CLINVAR:372382 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e628eef7-96b8-467a-b0b1-178a80b5054d CLINVAR:372382 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ec96e191-a5db-4b19-b1b9-f9b68afcff2e CAID:CA409103960 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5590b1a5-2367-4165-8769-b877d9898566 CAID:CA409103960 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b3f151b7-1f8c-499f-b470-dff303538872 CLINVAR:546494 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4229cdf4-66a4-4c2d-ac8f-c36c82b242da CLINVAR:546494 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b01a1e6d-c1f0-4044-8b8b-bffc4eec481d CAID:CA409103971 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7e063f69-368f-4190-af39-1eeb4cb0f4a1 CAID:CA409103971 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1be44262-cf27-4c18-b625-d5e8e32afda1 CLINVAR:435436 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen de9ef659-3c4d-43d4-9f41-d8a68805176f CLINVAR:435436 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ed0d8f86-1a7a-4680-907d-11f4ff2ca4d2 CLINVAR:520895 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e9ce3d3b-89be-440a-adac-0e36bc92f69b CLINVAR:520895 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 679a1c4b-5a0a-4bde-ac04-ad77ddafd8ab CLINVAR:430844 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7fa3e680-c273-487c-bbd4-37ec798b5f81 CLINVAR:430844 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 076a7389-06f0-4952-a184-47c675d1d6fd CAID:CA409104280 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 167cfad1-880e-456f-8672-fa2e58b2e7ca CAID:CA409104280 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 843c68c3-86c9-4274-aa38-c2ae918e6fe9 CAID:CA409104356 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e580de2f-acf8-4f16-92fd-299a1857c218 CAID:CA409104356 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2cfa12fc-c882-4ae1-821b-50fbeaf80c7e CAID:CA409104394 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c97fdd0d-85e9-4b7c-80b8-a93aa1c2aad1 CAID:CA409104394 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7dbad1f6-475b-49e0-8777-02ddcec04ec9 CAID:CA409105356 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 954acb2a-e152-471d-8c37-4099f8c9f0a2 CAID:CA409105356 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 478d4807-bdd1-40e7-b68e-14af316c5557 CAID:CA409105413 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f1aa70a7-6ba8-42ae-a8dd-3568d5709ca1 CAID:CA409105413 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1da6cf30-d21c-48d7-9b40-2896f303384b CLINVAR:995121 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4f40cee6-d4ba-4f8c-8a95-61e60add5734 CLINVAR:995121 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1643ca36-79a9-4c68-ac3f-be49911956bb CLINVAR:1457657 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen edf0cefd-af91-47d6-bfa7-918b61b5ab51 CLINVAR:1457657 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ad0f5953-4019-4134-a535-66fcf6607063 CAID:CA2573106197 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c267c3bc-d5f5-423c-8a0e-8a3e73ad1936 CAID:CA2573106197 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 413cb850-d776-453c-a189-2b17bafd4d66 CLINVAR:450787 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e4c27a79-f95a-4240-a26e-b4f50f87ccb2 CLINVAR:450787 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 89afdb28-c9f0-418b-93aa-0651ff55b04f CLINVAR:36364 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f8f7d326-a247-4fcc-86a4-05ef65a41af7 CLINVAR:36364 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7802a3b3-c0b7-42dd-914a-e242a925c4ce CLINVAR:435439 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 016082cd-0568-4f9c-b813-2809bb580e36 CLINVAR:435439 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0ee40231-257b-4bd4-942e-28a46fd93483 CLINVAR:587398 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e1cd0f48-4e13-432d-b79e-0fbf703c0469 CLINVAR:587398 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 43071cbd-77b2-4ad2-8e8d-f553196a6fa8 CAID:CA9870374 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen eeeafcc1-a814-4045-b108-c558855aa841 CAID:CA9870374 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8aeb0643-190c-4f67-becd-563b03309bed CLINVAR:447524 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d43fa80d-5948-403e-b295-25c27208991e CLINVAR:447524 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 233eea88-c313-49cd-b20f-b2865bc02b89 CLINVAR:804918 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4a434838-806f-4962-9df3-783f3bd0aed7 CLINVAR:804918 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 90a9556c-678e-4057-9b69-5d3f37253f86 CAID:CA409108073 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f8ec404a-8fc9-4188-a348-f00f8541be03 CAID:CA409108073 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7b111711-730a-496c-aea8-6cc475a6c32c CAID:CA409108074 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 53ecb425-af14-4747-bfdb-8cf42af8251c CAID:CA409108074 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3c03dac0-c720-44f8-9edc-a2da14f46f64 CLINVAR:447513 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 91e343ae-25da-450a-845f-571a98f6990f CLINVAR:447513 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8d6d1f9a-4fc4-4ada-ab9c-40aafded9ae5 CAID:CA409110425 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ab1ae12e-f806-4fed-aa36-1b74fc7a2f06 CAID:CA409110425 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9ebc2d2e-7b28-4b1c-a5af-ea1fbd1917f4 CAID:CA397725976 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4a7d7dac-cfa6-4f90-a5c8-1d54da8525da CAID:CA397725976 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9ef91a24-9e38-4952-92c8-3dc77a319b1c CAID:CA415078666 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c1d55cc3-14b8-441a-8aed-c51acd7ec019 CAID:CA415078666 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e561525d-c6f0-4364-a75b-cdedbc450404 CAID:CA415078874 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e11413a9-02f6-4611-8e51-adfc6b9ced5a CAID:CA415078874 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a928008f-0be2-440a-9e5b-29e888df234e CLINVAR:428204 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 10be2d3b-a5e5-4652-8273-822608cb2828 CLINVAR:428204 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 46e35aeb-4ffd-45fe-b7a2-34bcd214f63a CLINVAR:854960 biolink:genetically_associated_with MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 624486c6-ec42-4f6f-9208-b83d15aca092 CLINVAR:854960 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8c3b8cef-aa9d-4348-9fe4-280311706839 CLINVAR:1406308 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 149d325b-2f1c-4bd9-acb5-8c10759765e1 CLINVAR:1406308 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f80b8c61-9a8c-4d8b-a66e-f07be255cc9f CLINVAR:428222 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 34f57da5-8b9f-47ec-ab65-98f6753bf25e CLINVAR:428222 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 734e80b2-9989-405d-a28c-ac0af7c7b2fa CLINVAR:198683 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c6dff87e-558a-4450-a8fb-8ec1e85cc728 CLINVAR:198683 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b8b21d43-b524-4671-9676-45d9082e99fe CLINVAR:166643 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 60e2e189-5cfa-4669-a7b5-cf05a0e1a530 CLINVAR:166643 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4be3c3a5-39cd-48db-b737-db7d6d06f577 CLINVAR:952947 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ab360c45-48d0-4a73-a8cb-33301ab47faf CLINVAR:952947 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 35f3d2ae-8d9a-4373-9d46-a0af855bef51 CLINVAR:1684354 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c716503a-1339-4bbf-be50-15677a05dcfd CLINVAR:1684354 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 58f9b0e7-fdd1-418a-820a-9897331f1123 CLINVAR:1695377 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 919f4d6a-c41a-4e4d-bc37-529dcd3d0f90 CLINVAR:1695377 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 914be696-dd69-419d-909a-4116c2a45073 CLINVAR:627020 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen da0ca8fa-5069-4417-ab00-71250d6e602f CLINVAR:627020 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f7c07288-7a61-4e59-8258-346e41e3be28 CLINVAR:1684321 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 984ef712-447c-4691-984b-7e29843557c0 CLINVAR:1684321 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e50a91c2-c096-4b56-8764-baef3f23c130 CLINVAR:1684322 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5f6a9a21-a593-4216-bb5c-83df4df1e610 CLINVAR:1684322 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f7bbf650-60cc-4b26-b5c1-80f7959b0553 CLINVAR:932221 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 61b69c4e-403e-48eb-ae6c-c0fe66994f27 CLINVAR:932221 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aee537e0-4fe6-4019-97e1-683d25cf6917 CLINVAR:995370 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f0f4514a-6761-46ca-842f-a57dfa7a4208 CLINVAR:995370 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e8ce0f5f-de9b-4666-bb5d-fdee46bf89ad CAID:CA367401928 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 64298cb6-c7b5-4447-b735-fc296a3a2ec7 CAID:CA367401928 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c0bdd677-49b1-4635-bc24-4b80109e9b81 CLINVAR:1741488 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ff31cc90-4e81-44cf-8e1a-97a1427f7f07 CLINVAR:1741488 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bc6720c3-bc9f-404a-9967-6b72ae39af5d CLINVAR:36221 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7bf8ba18-90ff-45c9-bd0c-64f51fd10d8f CLINVAR:36221 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a11db12a-6dc8-418a-8ade-6200733d317e CLINVAR:36223 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f9d21a61-f516-4df7-bead-e783b86bf12a CLINVAR:36223 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7ef817fc-c792-4ec1-9217-44098612f87c CLINVAR:447401 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen df2420bb-3c71-4939-ad1f-03c04230355a CLINVAR:447401 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ada56010-4d27-40b3-9275-55cd1335beaa CLINVAR:283358 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7c175d1a-cbf1-41ca-b9d5-60ee55deb70d CLINVAR:283358 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7c94789f-6235-4130-b5dc-f1cf8c0a3b8e CAID:CA367401376 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 514a8968-76dd-4ab4-bdc7-dd9649759eac CAID:CA367401376 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 46c85352-7435-4913-a3c6-08c0a6e72fb2 CLINVAR:2431839 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5e989dd9-dff0-497c-b9ad-19d2e030390d CLINVAR:2431839 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0646dd1f-a846-498c-81bf-33cea44d8197 CLINVAR:1371376 biolink:causes MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5b37ce83-675e-4f14-91c8-6bb4543d0b13 CLINVAR:1371376 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen de0dc471-28e8-4db1-9ad4-6b7ba8fa1446 CLINVAR:973969 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e6bb8911-6f83-44c4-aa92-c7d644d02f40 CLINVAR:973969 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6ef9aa85-dcee-4479-8228-ba0b00f8cea6 CLINVAR:1452579 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e714d63a-48d4-4706-9d53-9363de71ed29 CLINVAR:1452579 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d7ab3534-2113-4dee-88c7-f3f06aa904aa CLINVAR:98821 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 63adaa72-74fe-45ad-9d49-dbe5b24fc15b CLINVAR:98821 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5256a5f8-eeb6-4121-9e6b-4b3e71b3aa10 CLINVAR:1212838 biolink:genetically_associated_with MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9dd02afd-24e6-4212-abe2-ab7ca67ab2db CLINVAR:1212838 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e28edaf1-6271-46e7-84fa-ed7c68c9b14c CLINVAR:427868 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 40cd7283-838b-4847-8029-103cb44b88b2 CLINVAR:427868 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1c242409-84b8-4cec-a2eb-2928f9447991 CLINVAR:98830 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 826ee3d3-72ff-418e-98cd-89db28b738bb CLINVAR:98830 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9c1ce865-7ea5-4007-bb29-eda60f95cabf CAID:CA340742683 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e7f3a800-a530-44f6-bfa7-26abba4893af CAID:CA340742683 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2ec5c07d-7127-43db-8ee7-7d35b7d226f1 CLINVAR:2131688 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1563c868-030f-4481-9fff-18d7ef3d7f6a CLINVAR:2131688 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ade1460f-0fb2-40a9-ad27-35922030ddf2 CLINVAR:850613 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8d121ac3-7e9e-4e97-8926-4d532a6d5740 CLINVAR:850613 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b959d666-cd67-4736-9899-74c4fd1c55b5 CLINVAR:1452575 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4f39dd53-7a81-451c-a638-22a11acd3334 CLINVAR:1452575 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5d0effeb-013c-40fa-9952-8a6b0da629c8 CAID:CA340741708 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5b8cb260-c5ee-4859-b8b2-a87fb0595b7a CAID:CA340741708 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eccf5356-3d7e-4edc-a395-0a646ff6c4b3 CLINVAR:1321180 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen bfb5d4f0-810d-43fa-a64c-b06178e5ff72 CLINVAR:1321180 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8d1a4db6-5820-4a63-87b5-48a7d7a50665 CLINVAR:813222 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1fc67fa4-6359-4da5-8e0e-3c9f13339c7e CLINVAR:813222 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b165fd66-a094-4aaa-bcec-b283d42aff6a CLINVAR:1384701 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen dfa4a31f-3616-45fd-8f00-744896eb04df CLINVAR:1384701 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6a00ef74-2625-4784-953a-a8ad319a53ef CLINVAR:1445004 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 387421cf-81ed-4d5e-8b03-f107d36cc576 CLINVAR:1445004 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e4fee975-fd76-427d-b6c4-0f039bbfd505 CAID:CA340750344 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1695224c-7ac7-42cf-997b-e485c48879fe CAID:CA340750344 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a23d7b95-6fb2-4a86-8dc6-6b15a137ad5d CLINVAR:559523 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen cf79013a-5877-40c8-82e0-1a021b8865a6 CLINVAR:559523 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bc71e074-147f-451f-93c0-e33b68ca05e1 CLINVAR:98873 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1ce73e7c-21a9-4832-8cde-8b68b1dc3681 CLINVAR:98873 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 845ae3b5-1b45-4cd8-9e45-34962a6ebb00 CLINVAR:98875 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a0f84889-651d-49df-9151-5fdd9baf4b36 CLINVAR:98875 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b922380f-f72e-4dfa-ab50-30017f5082e8 CLINVAR:1074826 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5a781bbd-b7b8-4a1d-ab59-2fbab990287d CLINVAR:1074826 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fe39cd10-02e3-441c-8e86-d8cdc6831b97 CAID:CA340750220 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 34886508-9d36-45b3-b98a-0a767034f5ff CAID:CA340750220 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0085fc09-60fd-4309-9e64-79e17464a1f0 CAID:CA2586966741 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8e06d140-32ca-4c66-815c-30399433a13a CAID:CA2586966741 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3be6f90e-e3bc-45c6-b5a9-12a2becec431 CLINVAR:437985 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f94c07f0-d88d-4606-813b-ef0ef0ba14d0 CLINVAR:437985 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fd81bc5a-95e6-4496-8833-1b1567166324 CLINVAR:556104 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8fc8f862-3bb9-4eea-b033-9da5a721ced3 CLINVAR:556104 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c716235a-1bcc-4f8d-86ac-2decdb58c931 CLINVAR:98891 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8e007846-0d34-44af-8267-e6f0b61f482e CLINVAR:98891 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 240ee54b-3fb7-4e47-a962-62372b96f96f CAID:CA2695202184 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 53a8cd66-ac4a-44fb-a432-65059dbe5b9e CAID:CA2695202184 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 538d50c8-ef66-478d-8799-8f0f222aa95a CLINVAR:98895 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c3ecc0f3-768a-4cbd-965f-99691516b718 CLINVAR:98895 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f3530f71-8315-488f-ab4d-bbe724ab049b CLINVAR:1679125 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3586d8af-18e2-420e-b295-536e35655532 CLINVAR:1679125 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1c2cdde4-9817-4dda-bce6-3814c8f0bd7f CLINVAR:98902 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a422596c-15da-4144-a45d-7e425db0325e CLINVAR:98902 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a87ceecd-5b8a-4c7e-8006-bfa59229c32a CAID:CA340744560 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9aee0b9c-0031-440b-9864-4908c3ab482d CAID:CA340744560 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 81c5fa3d-64a0-4336-89e9-b311de107b62 CLINVAR:971195 biolink:genetically_associated_with MONDO:0000572 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 552f039c-f49c-48f3-9ef9-298cb146ead5 CLINVAR:971195 biolink:is_sequence_variant_of HGNC:9831 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 57c9d048-90f8-4864-94dd-cd6fa1ad1702 CLINVAR:2098676 biolink:genetically_associated_with MONDO:0000572 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 75812440-40e9-4563-85cf-7a4399062a08 CLINVAR:2098676 biolink:is_sequence_variant_of HGNC:9831 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 893684a6-ffb6-41b4-b91d-a5a3c5b07fee CLINVAR:1515226 biolink:genetically_associated_with MONDO:0000572 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen aeb8d0c1-a96d-4ed2-8621-cf6cbfcb52a5 CLINVAR:1515226 biolink:is_sequence_variant_of HGNC:9831 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f3ff8554-afee-4931-84d0-7d29661ada10 CLINVAR:1348464 biolink:genetically_associated_with MONDO:0000572 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5cb5b5b9-cf3c-4072-9ecf-061a38523db0 CLINVAR:1348464 biolink:is_sequence_variant_of HGNC:9831 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 81b63047-2e81-4d6a-b6ef-4a628e51a401 CLINVAR:2269371 biolink:genetically_associated_with MONDO:0000572 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen de46c8e4-23d9-4098-bb21-617cd8fe0d89 CLINVAR:2269371 biolink:is_sequence_variant_of HGNC:9831 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a812e47d-6b76-415c-befd-1348245a74f5 CLINVAR:843919 biolink:genetically_associated_with MONDO:0000572 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 47529863-9ed1-487e-8ad3-c269d68e7f6c CLINVAR:843919 biolink:is_sequence_variant_of HGNC:9831 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen be8be388-ff69-4486-95c6-20f8516b13d1 CLINVAR:2079766 biolink:genetically_associated_with MONDO:0000572 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen cae63878-5be1-4d2e-8f6b-ffd6ded2ce01 CLINVAR:2079766 biolink:is_sequence_variant_of HGNC:9831 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 535c22f0-b90f-4f98-9d48-39dba8c43768 CLINVAR:2199784 biolink:genetically_associated_with MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d2222b4e-a8f6-4ea6-88e6-6fc368a4e8eb CLINVAR:2199784 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 57483ad6-593c-428b-9ec7-dd92def58e4b CLINVAR:1038658 biolink:genetically_associated_with MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ce24df2b-099d-480f-8858-f7b60dedf74f CLINVAR:1038658 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0f63bd11-4d29-457c-ae1c-a7896f21233f CLINVAR:1195941 biolink:genetically_associated_with MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1499a324-c7e4-4d8e-bbe8-99c6fab86dfc CLINVAR:1195941 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8c50f95d-dd92-470f-83e0-9653b2a9d2f1 CLINVAR:1507601 biolink:genetically_associated_with MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d9a145f1-3327-42eb-9f01-dcc01a4e29af CLINVAR:1507601 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a58df093-6284-4698-ac76-b005be1b85af CLINVAR:1357028 biolink:genetically_associated_with MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7901a269-6727-4b3f-8d1f-2339193e88d6 CLINVAR:1357028 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b61fdc0c-6246-4d9e-8ad5-7c50a0ca1ef5 CLINVAR:950101 biolink:genetically_associated_with MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8ea1163e-bc59-494d-823f-17c8709d3f44 CLINVAR:950101 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 74bc6732-8e4d-4512-84e1-468fdcee1245 CLINVAR:1626393 biolink:genetically_associated_with MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6edc0ac9-6594-4c0f-9dc8-2cd1b8525b05 CLINVAR:1626393 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ff7dd044-e63c-47c1-93eb-cb6c9091610b CLINVAR:2009484 biolink:genetically_associated_with MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 28c69558-9568-4711-904d-a5e8d8c975f0 CLINVAR:2009484 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9316f5a4-28af-49f4-8824-6340f6db1052 CLINVAR:845973 biolink:genetically_associated_with MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a1af1543-4e7f-41db-a19b-4e76a01ab779 CLINVAR:845973 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8d017783-a652-4d76-b341-a67df2f64fcd CLINVAR:897016 biolink:genetically_associated_with MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d13f336a-256f-4fda-9dd1-89fe929f2ff3 CLINVAR:897016 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5e9db64a-98de-4870-a406-c9e33178b138 CLINVAR:194316 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 61442001-ff34-439a-bbf9-11c603880680 CLINVAR:194316 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9d14e819-911b-4915-99ea-6c66bd622c00 CLINVAR:541723 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 45d8e5c6-8127-443c-8149-e78d06c38008 CLINVAR:541723 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8cdb0650-bab4-45e8-9dcd-c13f97723f45 CLINVAR:36199 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b2c44ead-ce8b-432b-9395-fa4e47b46077 CLINVAR:36199 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8dbcff2d-320b-4d54-9dab-1b51d2d96631 CAID:CA367396925 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8ed25cac-4509-4d73-a904-358d130cc716 CAID:CA367396925 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2d19496e-58c6-483d-894c-84e343246038 CLINVAR:36195 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 57563e0a-6e19-4739-b6ba-f80dcef34f4a CLINVAR:36195 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen be0fb606-8c09-4fc5-9f03-1d84259c80f6 CLINVAR:36194 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4acaac04-23ea-4f5d-8ed1-186e374ac391 CLINVAR:36194 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 714f5c22-818a-459b-9dc3-12e95f2fea16 CLINVAR:585912 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen dedcbd2b-a5c4-4613-8ccf-e767517e18c5 CLINVAR:585912 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a3b4d5ee-4e20-4b4f-ac54-d3b5549b4a1e CLINVAR:36189 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8d93857a-91e5-4dcd-96b3-11cdebd6bdb4 CLINVAR:36189 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen acff0ad1-4237-4b99-adcf-f9cdaa238f28 CLINVAR:447389 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 101da6e4-6ce3-46a9-b86c-8655ded665ff CLINVAR:447389 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a8f5ac37-f97f-45b4-93b7-cb465f4eaab0 CAID:CA367398282 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 77f5b1d4-2bda-43f8-a462-b66688f7a9cc CAID:CA367398282 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b965515e-0b64-49c1-98e3-4a2656ef60e1 CLINVAR:2734988 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 37a7c866-6195-4be0-8100-0b703701c9c8 CLINVAR:2734988 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6f5955d7-3621-4cbe-9b7a-5a05d00c50d9 CLINVAR:447387 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 54b9502e-1306-4e5d-a001-3578cad62e16 CLINVAR:447387 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 974f2fa2-39c7-4893-b948-919fb756a1db CAID:CA367398289 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d6e1524f-2d75-461c-8efd-e1618c058a66 CAID:CA367398289 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f92e0d60-f63b-46c6-832f-d2f5924d2de2 CLINVAR:447386 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 80d3d758-e103-4b80-8ed1-ee97ae4ff0ef CLINVAR:447386 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5201cf5f-b278-4b43-a369-155edf070abd CLINVAR:3233995 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen bc61298d-f41b-4d11-b01f-70c0f2258e7a CLINVAR:3233995 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fc12a6e1-e648-4b5f-95bc-dbf6fd005a3b CLINVAR:1472875 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8f72a05a-2ab0-4dfc-9435-7a26dfd3847b CLINVAR:1472875 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ea94277a-8a38-4703-86b7-c305f3ac6ec3 CAID:CA367398311 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen fba4f94d-0881-4861-ba95-93846d93ae9f CAID:CA367398311 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 66539fa9-0ec9-44e0-b861-0356c0ef05f7 CLINVAR:1303094 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5ef7afaf-3ea4-4f02-a618-8d545694c87d CLINVAR:1303094 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 20e9699c-58ba-4ec0-bb5c-a8de5a5eef4c CLINVAR:36183 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 85ee4685-1b47-42b2-80fe-0c5378467120 CLINVAR:36183 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fdd9e591-f30b-49de-b3a4-93937df300fe CLINVAR:36184 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2a8607bf-a55a-4df6-9a1f-abbe9a2a0854 CLINVAR:36184 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aa5f514c-2441-403f-873b-c84cd3e32ffb CAID:CA2580610955 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 91aafcdd-e0d6-4ad0-90b3-33b8624d9434 CAID:CA2580610955 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0f64c735-4f92-4b1b-9bc3-b402135e9f4e CAID:CA367398660 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e0941afd-30fa-4cbd-9677-dd12c85f82c9 CAID:CA367398660 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9e61c949-e912-4db6-9f0f-0e06d3986fd1 CLINVAR:3233998 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5d6a2796-d0d0-44fb-9690-1b6ffc432aa9 CLINVAR:3233998 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 990cd0e7-8efa-4152-b79f-9c1f97ef4e29 CLINVAR:280892 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen eca74ee6-4d27-45cd-a164-34721c05b3fe CLINVAR:280892 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0683f749-b854-461a-905c-67c9df753cc0 CLINVAR:36180 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a74b8b94-f6dd-4e3d-bdc7-423a0705591f CLINVAR:36180 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen db33f081-ff88-4766-b743-b6503e809f94 CAID:CA367398699 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 950bbe8e-6f49-44cb-89e0-472ee44cca06 CAID:CA367398699 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a5a1c5f0-6cc1-407b-9e4e-59ecb5ea088f CLINVAR:804837 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 656a3f52-f06b-4710-ac3e-e554c7ba86d2 CLINVAR:804837 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b0ae09cc-bce0-4a1d-8cb8-74e8200acf32 CAID:CA2580612101 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 26b41c4c-278b-410a-98ea-e8f617a586df CAID:CA2580612101 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1a05745e-d902-44c5-847d-696086a58f38 CLINVAR:219179 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6fd9bf12-58c3-4d06-b503-0f7a827e1e33 CLINVAR:219179 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2f291cf6-456d-4af9-b09f-db986b47da40 CAID:CA367401894 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen be5e96fe-ee2b-4a02-8ae4-8c4901a3198f CAID:CA367401894 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d09ccde7-c60e-4e43-a978-a49835ec3f3e CLINVAR:2567920 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen fda3006b-4a82-415b-bdff-64891fe736b1 CLINVAR:2567920 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen db728636-62e5-4aaa-8ccd-e16a94ed7977 CLINVAR:1512780 biolink:genetically_associated_with MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8b9310be-6ddc-4c6f-a0f5-d61f6b482824 CLINVAR:1512780 biolink:is_sequence_variant_of HGNC:9832 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b35e4ec6-f5d9-42ec-a9bd-b40d634d6917 CLINVAR:990457 biolink:genetically_associated_with MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen bd349256-f3f9-4ce8-9af8-55a8aa26abfc CLINVAR:990457 biolink:is_sequence_variant_of HGNC:9832 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 140f075c-ce06-4ede-bdc8-7c3942e61a39 CLINVAR:1309924 biolink:genetically_associated_with MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 04accded-e68b-4c92-a91f-ce428b2dc869 CLINVAR:1309924 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 33d693ac-ff77-413b-b586-851ef4a52030 CLINVAR:898483 biolink:genetically_associated_with MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0752f1a0-9662-4e0e-81cf-4062b9810b43 CLINVAR:898483 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dc7bccef-5fe2-471c-8677-73b3b085479a CLINVAR:8800 biolink:associated_with_increased_likelihood_of MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9c3aa93b-298e-4f8b-8aab-a641a2dc5601 CLINVAR:8800 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c5edc212-164d-48ea-93e6-90a7498b2069 CLINVAR:812796 biolink:causes MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen fc5db956-5274-4625-9c1e-7db7ff94768d CLINVAR:812796 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fd32e9c7-f10c-41ff-81de-d43452ecc58c CAID:CA409106055 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 99fa6820-0447-4038-8f5f-eae87a2c7536 CAID:CA409106055 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dcd99b1e-6d3f-48f7-9485-5af03c6b5396 CLINVAR:304560 biolink:genetically_associated_with MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5c837362-252c-45f7-ae5a-d2379b63328d CLINVAR:304560 biolink:is_sequence_variant_of HGNC:9832 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1dea49fb-5a44-4eb8-ae7f-213eabf572d2 CLINVAR:2301303 biolink:genetically_associated_with MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d5903333-e2c1-4ddf-a53e-efc3f976221f CLINVAR:2301303 biolink:is_sequence_variant_of HGNC:9832 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f22040c3-6961-4e8b-a184-d4c5e105852b CLINVAR:857533 biolink:genetically_associated_with MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 83399863-54fc-4f0e-8361-7ea61765240d CLINVAR:857533 biolink:is_sequence_variant_of HGNC:9832 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4df14967-46ba-4404-903b-270710c70067 CLINVAR:658239 biolink:genetically_associated_with MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen bf9f9b57-b3ef-4d58-add8-5a4fde7b008f CLINVAR:658239 biolink:is_sequence_variant_of HGNC:9832 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4a230af2-cda7-4089-ad5c-3bad9f19e11f CLINVAR:879522 biolink:genetically_associated_with MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3e6e7c1a-6f3b-4395-bc55-9ce0d196f201 CLINVAR:879522 biolink:is_sequence_variant_of HGNC:9832 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d766ff1f-54fd-49c9-96b0-e76b3854ea2b CLINVAR:990456 biolink:genetically_associated_with MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1353b07e-2264-4d7c-bbac-288a0f27870e CLINVAR:990456 biolink:is_sequence_variant_of HGNC:9832 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7203925e-87d3-4fa7-ac0e-c8f1d6f3d52c CLINVAR:662119 biolink:genetically_associated_with MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2d47e2a5-2dd1-46f0-b5d0-c391315d4b3c CLINVAR:662119 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 00370aed-b504-451b-a1c2-a14c806248ee CLINVAR:382795 biolink:genetically_associated_with MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a001dd7d-28d1-493e-9b0e-ebbfbdada641 CLINVAR:382795 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 98d6f1de-1b3e-44fa-a64b-f73e5192c79d CLINVAR:1015428 biolink:genetically_associated_with MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 00594b2f-00bb-4c29-b862-9e7f877e80e4 CLINVAR:1015428 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b47579fd-f98b-4096-b9b0-d60e00602d86 CLINVAR:960745 biolink:genetically_associated_with MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d6c9c470-2fba-4878-8d85-abf868076cc3 CLINVAR:960745 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 74b59c90-bbd6-4e75-90ed-d75234853bd8 CLINVAR:2147602 biolink:genetically_associated_with MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e45f8828-1e20-4d1c-bcc3-2ced7142a2ce CLINVAR:2147602 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6d417377-57bb-47e4-b75a-f49cb8b77f13 CLINVAR:1696220 biolink:genetically_associated_with MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e876b824-89c8-4549-8858-cd1277a73546 CLINVAR:1696220 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9f05cfd9-6c0e-4672-8077-50e64af5caf7 CAID:CA409106957 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 68c53235-3862-4b70-855f-9eeff82cc06d CAID:CA409106957 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f7ab9f35-fcd3-4716-85ee-1f66b1098214 CLINVAR:212810 biolink:genetically_associated_with MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2b9a4e10-1057-4df3-9b6d-5d04a35f2241 CLINVAR:212810 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a5464831-ebbf-44c8-986c-f5508637cd73 CLINVAR:8799 biolink:causes MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0f073c75-dcdc-42a5-a5a9-b4817648b664 CLINVAR:8799 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4ee31d7e-0b62-402e-9954-9239bc686940 CLINVAR:333645 biolink:genetically_associated_with MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e6975bab-25e3-4d7b-94d5-69dd87c605f5 CLINVAR:333645 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b1c5e011-a51d-4385-b9a5-4bbb63517aa8 CLINVAR:898486 biolink:genetically_associated_with MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c43ed0c6-6c9f-49e3-9018-903f526d05ef CLINVAR:898486 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e8024c34-d796-4c4a-b3e6-cd51642025a0 CLINVAR:409829 biolink:causes MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 32819b4a-babb-44e7-885d-a8bbecc4ac8d CLINVAR:409829 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 790a5a2a-0cee-42f1-af0d-78abfec99149 CLINVAR:425943 biolink:causes MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c1b6534d-7525-4ff1-accf-249528b28a7a CLINVAR:425943 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e1415db6-d86e-47b3-a4c3-f7acbd95d597 CLINVAR:8797 biolink:causes MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c3ebf542-df09-44c8-9e27-415a610e5db8 CLINVAR:8797 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 85fb2c40-97bf-416b-a82a-0d18520cbe76 CLINVAR:425725 biolink:associated_with_increased_likelihood_of MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3f078a14-81ec-4440-83d6-3a851d21432e CLINVAR:425725 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2b8a6d9c-6160-4bed-946a-cc1471e663c5 CLINVAR:8806 biolink:causes MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 674aee40-aeb7-48c7-aa19-61f180b4b7e0 CLINVAR:8806 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6641f6ff-1101-429a-ad52-b7364f06f38d CLINVAR:228460 biolink:causes MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c5f55fdc-da9c-4d94-8aaa-eb4440da7212 CLINVAR:228460 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e73e1c1a-661e-46b9-b638-f9dedf10bee6 CLINVAR:425852 biolink:genetically_associated_with MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 607a5673-f327-4c13-ae02-361ce96e4eb4 CLINVAR:425852 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8424717c-e129-432a-82fa-154efebfe84d CLINVAR:409828 biolink:genetically_associated_with MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 93305d1a-3216-4fed-ad2e-e0357cb2a0d6 CLINVAR:409828 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 30c16926-c886-4cf5-ac20-69dafda3d8f3 CLINVAR:333647 biolink:genetically_associated_with MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d00f0619-33bb-4ef6-a319-efe271c0d652 CLINVAR:333647 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e3455747-c08f-4e8d-acdc-b34725ed977c CLINVAR:8813 biolink:genetically_associated_with MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f28c4ada-e36c-4dc5-82ad-98e18cc285e9 CLINVAR:8813 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b55a49b6-dfb5-489f-a30d-5f1029b11cf1 CLINVAR:623142 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e477a8f5-d105-4ed6-aa4e-b6ceb55bb510 CLINVAR:623142 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7a343168-82cb-4635-8cf4-95a828c424cc CLINVAR:623143 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 89566ff6-a0d3-4e26-a69a-416625cc30ec CLINVAR:623143 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5580114d-0db3-4c03-8062-e1a9715b2dd1 CLINVAR:425800 biolink:genetically_associated_with MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7c3b4436-6ee1-4d4e-ad56-db431c0446b7 CLINVAR:425800 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 95b6a161-c477-4d17-9d60-d22a02f3bd86 CLINVAR:627027 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e1ebdf85-9dfe-49af-82c0-7cefe5117640 CLINVAR:627027 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 98ec1853-ff40-433b-b704-b08502090f82 CLINVAR:627268 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 19d9e09f-18db-4e85-8946-bec2830185eb CLINVAR:627268 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4072df16-0054-4efe-ba80-75d423c75d92 CLINVAR:626981 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 39b947e2-63a4-474b-a604-83eca5aecd67 CLINVAR:626981 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b1b3d115-bb6e-4834-816e-5bf73bab066c CLINVAR:627284 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 73636881-c356-42cc-a648-209d3ea05406 CLINVAR:627284 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 008f6468-a702-4101-adc7-0ce538f510ae CLINVAR:2092257 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 74dad65d-2f20-41c4-9011-d77eec9fe039 CLINVAR:2092257 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f1a40ad3-df00-484a-ba86-b21c16dfa6d6 CLINVAR:425731 biolink:associated_with_increased_likelihood_of MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5bbdde76-7cc3-4d96-9023-60372ef417df CLINVAR:425731 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 373d6b80-a8b7-47c8-a671-e84ee5f6de5a CAID:CA400034189 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d5727267-b8a9-49b2-9fb2-4ecf887194d2 CAID:CA400034189 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4a1ee26e-db8d-42f8-a0d3-895160d955f8 CLINVAR:626948 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ce8010ef-cdcd-42c1-b929-0e055f5131c2 CLINVAR:626948 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0de36a54-a1f8-4f66-8eb1-6f8af8307587 CAID:CA399803746 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5e94b9f3-9693-4ac5-854e-ba46a59ca07c CAID:CA399803746 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6842fcf8-ba74-4e64-b629-14dedd5e8f21 CLINVAR:1349574 biolink:genetically_associated_with MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fbc0c2ba-1e04-45a7-91fe-94aadfb2d320 CLINVAR:1349574 biolink:is_sequence_variant_of HGNC:9832 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 723a4d2b-51ef-48da-b51a-0753b61e2ac9 CLINVAR:36713 biolink:genetically_associated_with MONDO:0000572 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c3f1e0f1-9ca2-4fce-b41f-f32f0acf4934 CLINVAR:36713 biolink:is_sequence_variant_of HGNC:9831 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b90318c5-6663-4c00-9b80-38f99b0b9ee2 CLINVAR:1365761 biolink:causes MONDO:0100062 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 23a50249-b39c-4d7f-95c8-1a8a9013d34f CLINVAR:1365761 biolink:is_sequence_variant_of HGNC:10590 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0f62c3d4-d3eb-4b09-8ae4-96d3571fada4 CLINVAR:207024 biolink:causes MONDO:0100038 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen dd67302f-9ec3-4d9f-80c0-666808dc3201 CLINVAR:207024 biolink:is_sequence_variant_of HGNC:10588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eda3ecff-d7a7-428f-8a1c-622009dc71a5 CLINVAR:189929 biolink:associated_with_increased_likelihood_of MONDO:0100135 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 724fc393-8e31-4c3d-a6c5-7d7ab9273389 CLINVAR:189929 biolink:is_sequence_variant_of HGNC:10585 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a35f0348-5db2-475b-8798-1620e40c78ba CLINVAR:425938 biolink:causes MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 696b8a4c-b655-43f1-94b7-94958c19d14b CLINVAR:425938 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 70bf6ebf-7dd1-4e84-8446-1111c37d8582 CLINVAR:1759366 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen af43844e-5ecc-42e9-86c7-ca3447838087 CLINVAR:1759366 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 63304221-4e40-480c-9352-e4a20a598e35 CLINVAR:656642 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 401ee68a-c027-4c5e-8ae1-9d1a81f7db22 CLINVAR:656642 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f17667d9-6177-4f9a-b68c-47c739180d3e CLINVAR:850948 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen beb48073-d14e-4f31-b1f1-c51238d46627 CLINVAR:850948 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d23c0584-2d4d-4a8e-915f-82ad4b0265ab CLINVAR:826421 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2e209e27-28b8-4cdd-9578-2cefe0ca4a64 CLINVAR:826421 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0a8de22e-9304-42d8-be93-2fda64b1e55d CLINVAR:543562 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 56918f03-32a3-40b6-948e-36eee1977bd0 CLINVAR:543562 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 90debede-c7de-40ea-bd99-eac414225751 CLINVAR:570615 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 17b489bf-5709-4fe0-9adf-c3e18bc2397b CLINVAR:570615 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b42bed4f-a125-4f6f-9ee2-1830fd3e63eb CLINVAR:412143 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 181c36db-9788-4c34-bfeb-aa1a97fc965f CLINVAR:412143 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aa5a5f6f-9b2f-4385-9370-e1a1664334e8 CLINVAR:652143 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 94733fff-a5d5-471c-ade6-0346b6ba03dc CLINVAR:652143 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bdda7457-f5d8-49c1-82df-ff5146fb3dba CLINVAR:479649 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 13ce347b-9ccb-42b4-9a4b-314137ad9da2 CLINVAR:479649 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e2760560-1c2c-4a0a-a0cc-44b98aff7ce4 CLINVAR:477204 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0af6b02f-74ec-4c97-b8b9-b2a50119b2dc CLINVAR:477204 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1e7a224f-c824-4498-a7a1-7001dea74cbf CLINVAR:1687238 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4a76d297-9d82-460d-b8a1-54f26c63d790 CLINVAR:1687238 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 102e0a4f-3f87-41de-bfff-1bfd86dc7b3d CAID:CA390867526 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 23d42586-eedc-47e8-ac64-99ffb775cfe9 CAID:CA390867526 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f1c29c34-861c-496c-900e-994ad2f42a50 CLINVAR:285157 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f0cbee68-0ca7-46be-b245-deae72306a71 CLINVAR:285157 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 11863e1a-d71f-4501-a906-6f5d3bac8ad6 CLINVAR:189124 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ccb383bc-87a3-42b3-bc44-7cafdf3ebbe2 CLINVAR:189124 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e2abd4d5-7285-44f1-8328-4364b9070cc3 CLINVAR:253297 biolink:causes MONDO:0100038 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 93c7e30c-040f-4b57-9cca-9976aa172cd5 CLINVAR:253297 biolink:is_sequence_variant_of HGNC:10596 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 17a9e87d-acfe-457c-b47f-d31fdb06f6d5 CLINVAR:694309 biolink:associated_with_increased_likelihood_of MONDO:0100038 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 30dc102f-08ba-49ae-9d2c-041824680caa CLINVAR:694309 biolink:is_sequence_variant_of HGNC:10596 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 418ba420-f739-4621-a9c4-7ff97a677caa CAID:CA2586970245 biolink:associated_with_increased_likelihood_of MONDO:0100135 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 805d27a4-2af9-44d9-abe5-4a57698671ff CAID:CA2586970245 biolink:is_sequence_variant_of HGNC:10585 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6a4830b4-175d-4f77-b69e-04337124fb31 CLINVAR:189869 biolink:causes MONDO:0100135 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen beaa18d1-ad98-46d9-9503-ed76a26c6931 CLINVAR:189869 biolink:is_sequence_variant_of HGNC:10585 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5f5bd112-01a5-4d63-a9f2-5f3b88551454 CLINVAR:373960 biolink:causes MONDO:0100062 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6892894b-82cf-4492-8ece-73e1b84ed742 CLINVAR:373960 biolink:is_sequence_variant_of HGNC:10590 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 915e6ada-6317-49fa-8e40-e1c5035ea834 CLINVAR:68689 biolink:associated_with_increased_likelihood_of MONDO:0000572 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1b69e56b-e3a9-4007-b877-408019ca154c CLINVAR:68689 biolink:is_sequence_variant_of HGNC:9831 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bba1b9a3-a03f-4b19-8bba-ce0d4ceefa80 CLINVAR:206852 biolink:causes MONDO:0100135 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5be20ad4-7a10-471f-a4a0-d1ba5637ab92 CLINVAR:206852 biolink:is_sequence_variant_of HGNC:10585 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 27a28d44-21db-41bc-8ff2-2f4bc25fc98c CLINVAR:194555 biolink:causes MONDO:0100038 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5b661855-c448-4485-8410-481bff470853 CLINVAR:194555 biolink:is_sequence_variant_of HGNC:10588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 57b8baaa-f854-4bef-900b-451dec8bd00c CLINVAR:1478168 biolink:associated_with_increased_likelihood_of MONDO:0100038 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 67a34c58-348b-4e69-a554-9d21f5e5fdd4 CLINVAR:1478168 biolink:is_sequence_variant_of HGNC:10588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cb9e0670-0790-49d5-86ef-94b3c1b949bc CLINVAR:1342669 biolink:genetically_associated_with MONDO:0100038 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9ba9c19c-0153-464b-beaa-d583a6930dd5 CLINVAR:1342669 biolink:is_sequence_variant_of HGNC:10588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a0ce3161-5beb-4fed-bd7f-cc645ee74a59 CAID:CA343777244 biolink:genetically_associated_with MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3ab97bda-d56c-4d5d-8b3b-8d1f89513c0e CAID:CA343777244 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a8358c0f-3218-4ea1-8eb7-55ef262f324a CLINVAR:654211 biolink:associated_with_increased_likelihood_of MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5a6f7443-054e-4176-8678-94f08ca53660 CLINVAR:654211 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b478d9ce-c1fe-40cd-933f-2519dedb4edc CLINVAR:18015 biolink:associated_with_increased_likelihood_of MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3bf763f6-7358-40dc-8ade-340d3b384cc3 CLINVAR:18015 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 78d5e6a7-2289-42d7-a549-cb9b7b3b2081 CLINVAR:870596 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen eff2e941-e749-4f71-ab52-30d2a065d886 CLINVAR:870596 biolink:is_sequence_variant_of HGNC:7494 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 82f377dc-27c2-454c-83fc-3d4e616f59fc CAID:CA1251327 biolink:genetically_associated_with MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen cc2ca27a-969b-4340-bb56-9d875383ec8a CAID:CA1251327 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6e8842ab-7d68-4db2-b40f-d26f7173c322 CLINVAR:811513 biolink:associated_with_increased_likelihood_of MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c6e4cd81-e028-4c6d-8e17-bbf9af9dfa78 CLINVAR:811513 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f8f2dbd9-3871-49b9-b4e2-e131220fa362 CLINVAR:699299 biolink:genetically_associated_with MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0e84f864-9f26-4a5f-97f4-6dbfa2016d1e CLINVAR:699299 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dab143a8-7de0-4183-900e-03c21e881c2e CAID:CA414447224 biolink:genetically_associated_with MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 18ed370a-9203-4f3c-8c88-25b4884cada4 CAID:CA414447224 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8d61fb10-a29a-44c8-81de-8c0ac087b21f CLINVAR:9211 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 246ca348-3ae9-44f8-b1a9-c31ebaf3d47a CLINVAR:9211 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3ff03000-bef9-4b41-a09a-02eecaa58cd5 CLINVAR:972784 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen af94f9ff-4a64-4890-acc1-9c3e225cf374 CLINVAR:972784 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 26262fd5-aec4-475a-89e3-c744cba5eba0 CLINVAR:586016 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d150b808-a2db-433e-85b2-690da7aab575 CLINVAR:586016 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 882eb28d-391a-4db9-b590-1254086c2335 CLINVAR:549554 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen cf0fdb1d-d984-48a5-9beb-70dd387fe956 CLINVAR:549554 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 285e6f18-07b1-4671-ba3c-eb6275e2b075 CLINVAR:435437 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8e620bc9-e0d4-4de1-913d-f1ae0422432f CLINVAR:435437 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f390063b-93aa-41f9-98a8-1e35bbd30260 CLINVAR:493321 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b1b59167-4c75-404c-9f7d-bfa8fe0a393a CLINVAR:493321 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3c12b340-d0f5-466f-813c-0475975c7093 CLINVAR:520675 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen fcf6eaea-38f1-4364-b996-4744af9e2c1a CLINVAR:520675 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 94851b9f-d790-404c-a607-2dad9b66a362 CLINVAR:488999 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 209ddc91-33d5-4508-90d6-afde2740d051 CLINVAR:488999 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1d8ebf2e-00a7-432c-a1ac-d2201251406a CLINVAR:36354 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e73e71c5-7f5e-4669-9613-bb2a6ba7564b CLINVAR:36354 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e04d808b-fe18-4f3a-abe1-d7f652ab63da CAID:CA409106173 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 398d8a0e-f542-4150-93a0-b5847d2bb04e CAID:CA409106173 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4eb69e94-50b9-4043-83b6-9f58fe4cc729 CLINVAR:2580600 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 04d2fc9b-b501-4c0c-ba6d-e745b996588f CLINVAR:2580600 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d0764fbc-4d38-40ec-ba8f-0ebfe721df97 CAID:CA409106718 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2d39f54e-04a3-4cf8-af0d-689b5fd1700c CAID:CA409106718 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cfe6080a-7061-47fd-85e7-fced85513da5 CLINVAR:36355 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d6ee5411-b31f-4858-be2b-ad4a5f11ed45 CLINVAR:36355 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3c53f699-9402-4e56-b4b6-e1f82cbbb844 CAID:CA409106789 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8aa107d7-3041-489d-8055-8903ee8a6501 CAID:CA409106789 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 12260dc8-52c6-4032-a55e-c92e1a4f498f CAID:CA409106859 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2f6bf356-7358-45e5-b6aa-7f8fbc5db0e0 CAID:CA409106859 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 26da50d8-57fa-4f12-bbf3-e648722299e7 CLINVAR:397578 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f0e92fb7-7aa8-4f3b-ad52-e6c5f3f5f0f6 CLINVAR:397578 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8f8e487e-eab6-4d75-8d1f-276769af2cdf CAID:CA409106952 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5723613b-6d04-444e-9073-39eb03f1509d CAID:CA409106952 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 42de6035-a0e8-4641-ad91-a50b57b472f4 CAID:CA409106961 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8611b2be-a958-48ea-b0ed-2f11c3700b49 CAID:CA409106961 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 34003b21-08f0-465f-b929-859a8d88e643 CLINVAR:586020 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen dcd4bab2-0ba3-4b7e-bd98-7ed6dda19f6c CLINVAR:586020 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 88d3298f-539e-43cd-9866-96a06fb05450 CLINVAR:1186689 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b4ff8fd7-3c58-417e-ac9f-248704aaeaa8 CLINVAR:1186689 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c1b52b7f-3825-4754-a5ca-2c2f5076b4c0 CLINVAR:447520 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2aaaf2e9-8927-4926-86fe-c93fea75d6f2 CLINVAR:447520 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ec6b2130-d650-4d0d-9480-64111f70c673 CAID:CA409107446 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a87ded21-b053-443f-892d-46630e8a5c15 CAID:CA409107446 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f433954d-5a1e-476c-b5a3-cf02f19d22d1 CLINVAR:870344 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 36039daf-9520-44f6-9b6a-a23864449192 CLINVAR:870344 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1421fd89-6a8e-4c74-8a64-6712a7b86c4e CLINVAR:36720 biolink:genetically_associated_with MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0ab22464-272b-4620-bff7-7053d04e5b9b CLINVAR:36720 biolink:is_sequence_variant_of HGNC:9832 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fcec6b7d-ebc4-4a3c-a63d-48e485b0b239 CLINVAR:2163677 biolink:genetically_associated_with MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1dcb2590-b9ad-4ef4-9025-34d6bdc89eed CLINVAR:2163677 biolink:is_sequence_variant_of HGNC:9832 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e5e75788-0509-4b9c-9b93-b88193a727c2 CLINVAR:36716 biolink:causes MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0c39422a-a3a1-42e2-a026-542236e1f0b5 CLINVAR:36716 biolink:is_sequence_variant_of HGNC:9832 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6beea2c3-6277-47c8-a12c-c20a4a77140b CLINVAR:857069 biolink:genetically_associated_with MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 20f9867d-70eb-471b-8c81-381da42ecbd9 CLINVAR:857069 biolink:is_sequence_variant_of HGNC:9832 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 16418208-3422-4415-8074-e1a24f7a0af9 CLINVAR:281042 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 58927f06-e831-41a2-9167-9e5972c431ea CLINVAR:281042 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fd3b52c7-9dae-40d7-bf4b-b3f2c17abf41 CLINVAR:370886 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 686aaeb6-8845-431e-8a77-a638e54b7898 CLINVAR:370886 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 79ccde14-9c08-441d-b29a-462efe711025 CLINVAR:932843 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2b6efc2d-9b97-48d1-ad5e-ec501b7104dd CLINVAR:932843 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3dcbde53-9b9d-48c0-956a-efa9c4ceccfe CLINVAR:557676 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 04f176e3-eec3-41d8-b5d1-c926a0d0bce6 CLINVAR:557676 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 367b00fc-c9b4-463c-9ae8-16883cbeda7b CLINVAR:21024 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen fa234ee0-316c-48a7-90e5-3b5fbd24dfa0 CLINVAR:21024 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 40fd188b-183d-4c42-9fe3-c514e74e2e51 CLINVAR:197662 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 97be0940-81ca-47fa-9650-b0a424fe09d3 CLINVAR:197662 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c04c804b-1fbf-4c1a-9459-47d0e93a0225 CAID:CA415086302 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3d036a1b-0824-4599-8b68-2917c31d2ed6 CAID:CA415086302 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c9d922cd-2a1b-45d0-b710-078502114bd0 CAID:CA4239423 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c1ed5b1f-f1c9-49f5-a00c-28cf3ccd9935 CAID:CA4239423 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0afb43e2-2ca4-4df2-8e52-d4e1a9c6bfa2 CLINVAR:983782 biolink:associated_with_increased_likelihood_of MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2cea5252-9d31-4ff2-a7a8-01536894b11f CLINVAR:983782 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3aa35d3f-8d91-42d4-a573-f4193631b61d CLINVAR:983781 biolink:associated_with_increased_likelihood_of MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a0d75383-8659-4a65-87aa-0f94fc9f1c2c CLINVAR:983781 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 665b456d-0af1-4e49-a1ac-52e053a9b6f3 CLINVAR:636917 biolink:associated_with_increased_likelihood_of MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d4dd89b5-919c-4746-a63b-a9750c4cdc0b CLINVAR:636917 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bc684c81-3239-48c2-bb68-509c43c4b3c5 CLINVAR:1323112 biolink:causes MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0099c797-4448-45b0-ae2d-6951cf919ee2 CLINVAR:1323112 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1be48a12-27ae-4505-bc97-b351ed18e168 CLINVAR:418451 biolink:genetically_associated_with MONDO:0000572 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d1f189cc-b510-4a9e-ae2d-11e1915b7419 CLINVAR:418451 biolink:is_sequence_variant_of HGNC:9831 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 15153856-3db1-4a26-9806-7aa806679aa7 CLINVAR:496900 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a1793caf-0bac-405c-b60c-9642fbe781e3 CLINVAR:496900 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8359b8e8-c72c-4704-baad-1cf5ac4d12d0 CLINVAR:450358 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen eb5e00d6-4f08-49bb-8fc4-89124c14df1f CLINVAR:450358 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6c422b0f-ae1e-4081-b344-be8b1897b66a CLINVAR:280954 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6a718dbf-600f-4d66-a6da-eba5101c82c1 CLINVAR:280954 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aed13cbc-db50-46e2-89c6-1511abfa6b6e CLINVAR:928930 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 27db4aad-6664-4daf-9951-ddefc1acadd4 CLINVAR:928930 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8e81c5d8-b973-403c-a442-661d961c2fbc CLINVAR:285197 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ac835a89-b363-4253-8032-ce56e6ba600f CLINVAR:285197 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bc0385c7-d918-4f99-b11c-4ec1b358f2ae CLINVAR:4023 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 745596c8-c6fa-485b-bd61-d7b2c528bedd CLINVAR:4023 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5471d2c5-d02a-4de4-8d75-014b0456e17e CAID:CA400029324 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d87d5997-3590-48b8-af21-17d07c09b9f4 CAID:CA400029324 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bf2541b2-3c18-4154-9b5c-e210944b9feb CLINVAR:1803282 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 89f0cef1-169e-4ef4-9448-5c621df295f7 CLINVAR:1803282 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 689a466d-0a01-4216-a855-61c9b00b44ce CAID:CA2759533408 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3ef34b92-7e10-4b03-9179-ca424c4acbfe CAID:CA2759533408 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4bec9c34-1d85-41cc-bde1-febaaba458c7 CAID:CA2759533407 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b4ca873b-7b03-45ea-8fde-d51ae0175861 CAID:CA2759533407 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7a4acb75-830f-47ea-adfc-9a5cd0cb3ad0 CAID:CA8603562 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e16cffef-de66-4338-888c-0a9c33e4ced2 CAID:CA8603562 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7e0f491d-7bce-4fea-a89b-c0e931472c4b CAID:CA8623258 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4ec9cdad-1c01-4d1e-9776-aebd72ea3687 CAID:CA8623258 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bd2b2c4a-c86a-418f-a98e-cf29d9552218 CAID:CA8622981 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8383726d-7d0a-49bc-a670-5ba4b69e3628 CAID:CA8622981 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 893d30e2-a700-4ead-8136-c6e2bab86b78 CLINVAR:627098 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 77720f38-d9cf-4a5a-a7d9-c4ea0e9b4220 CLINVAR:627098 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3dd1031f-2117-4691-9790-6b36cdc577be CAID:CA367401570 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e48621a4-3c59-4c56-ba20-abaff6446b5b CAID:CA367401570 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c41c13db-cfda-4f3c-8a52-94e3f4a61a45 CAID:CA367401572 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4920769d-9b70-4af8-a2a4-200f9bb3376a CAID:CA367401572 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c76fd2cf-f1dc-4059-b136-ecc41351b532 CAID:CA2740099755 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fe012add-3e98-44df-a558-14834371eb31 CAID:CA2740099755 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 199ddc69-6ba4-4ebf-8fb0-1908769f1d37 CLINVAR:1700671 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6f3a0508-4c59-4196-9ef6-0c3dd716eb82 CLINVAR:1700671 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f38d3840-d23f-4a7c-93cb-96f37e2d71fd CLINVAR:994548 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a2d2fea9-e976-4e0b-9f03-391d2051d716 CLINVAR:994548 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2f143af4-3279-44fe-95f4-0c911a9248b6 CAID:CA386959402 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6ddc49d6-eb0d-4f41-a819-d7942adcec6f CAID:CA386959402 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 15466f51-077b-4c87-b365-6b2cb8187423 CAID:CA386959427 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0c732533-d357-45c8-90ee-49890665ca8d CAID:CA386959427 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6698eefa-48c6-4fbc-8ccd-cccba31e015c CAID:CA386959458 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 852f73d1-e361-40b8-8819-a48ca768e0f3 CAID:CA386959458 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c32a98fe-bcf2-4c71-8c6a-15d1d0bf63e5 CAID:CA386959470 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen acba4484-e7ee-4cdd-8583-9456a978403f CAID:CA386959470 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dc7445a2-fe28-4594-91d4-2b29dede4bc7 CAID:CA386959497 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6f0301bb-034a-48d1-9d1d-14bd887e70db CAID:CA386959497 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 75f86490-8dd6-4a8d-87dd-a53ad57d4e02 CAID:CA386964629 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4826c5f8-e814-4dcb-8245-2de547018386 CAID:CA386964629 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6ca04ed5-1843-40fc-b9f1-e89517fdabb2 CAID:CA386964662 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a7bd4993-2684-4e98-85af-b216ce941325 CAID:CA386964662 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2ba2c16e-7996-49e3-a107-242150b3f7d2 CLINVAR:2916089 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e177e6cd-a99c-47ea-922f-5e3c7b839bd9 CLINVAR:2916089 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2cf55bc3-80c6-41a4-9982-aa70a12907b1 CAID:CA409109837 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 59da08f6-7d32-44cc-9a4c-a6695c5eb181 CAID:CA409109837 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d884567b-67d5-4b67-9c0c-f7d1255ba292 CAID:CA409109839 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b1fe4302-2fa7-491e-ae7e-a6f6b57c1cff CAID:CA409109839 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fb07fcf4-6d23-4e40-9ae8-75fb0204e371 CAID:CA409103677 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0123ad21-9992-41ae-8e87-ab52f6959eb9 CAID:CA409103677 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 32d2a3c9-991a-43a6-8048-5fd5e6f03697 CLINVAR:967164 biolink:genetically_associated_with MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b6d49c56-4592-48a3-bf8d-2ae122d5ed10 CLINVAR:967164 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 83907c0f-deed-4980-aa91-24d427f79a96 CLINVAR:841399 biolink:genetically_associated_with MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f6107f45-f998-4ef4-b3f9-352eded2c424 CLINVAR:841399 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 028a1884-8bde-45e8-a786-334d2e6e254d CLINVAR:835256 biolink:genetically_associated_with MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 60119260-4557-4cd2-931e-871fd43d433e CLINVAR:835256 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a44828d8-223c-438c-b023-e7c81b8863c8 CLINVAR:2050660 biolink:genetically_associated_with MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 58158681-2564-4f58-b676-6e006fdb52d0 CLINVAR:2050660 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3b3d522e-7fe5-4704-a1b1-d4cfdd4908f6 CLINVAR:573475 biolink:genetically_associated_with MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4e9c5285-c2dc-471c-beb8-8e13486fb505 CLINVAR:573475 biolink:is_sequence_variant_of HGNC:9832 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ac3a944e-9be3-46b5-b681-7bd2ea10ee1a CLINVAR:940774 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2dd44359-db05-441c-ac92-2116f7688a10 CLINVAR:940774 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 36b88799-ae05-44a3-bea5-7e500ebaee88 CLINVAR:11703 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 91082c28-3ad2-4007-bf3c-20aa033b1b94 CLINVAR:11703 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f36307c8-6f41-48e7-a400-e7659b36f1a9 CAID:CA2582129988 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 50253c58-6c0f-4d03-a6bd-3f0cfbe5f0de CAID:CA2582129988 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 70fcad2b-cda3-4594-a526-0ace5bc66062 CAID:CA415079038 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 88d2686a-9535-4b3b-9b5a-d67c3b950841 CAID:CA415079038 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 22fe2a9e-f745-41b8-b3eb-ed6258dbb5c0 CAID:CA2582115911 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 33afa604-1e17-42a5-a437-71f5cc9d2e0d CAID:CA2582115911 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 78a68414-2aae-49ce-9f10-b60e0a8aaebc CAID:CA10549330 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d5fb971c-d768-49b2-8697-1e56c195bd41 CAID:CA10549330 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 231230f5-f555-4e72-8207-e482c738b9b8 CAID:CA10549339 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 81024cbb-1610-4712-8152-3debf07fcfba CAID:CA10549339 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 64a9942e-b7b9-4b57-a642-5d9120f998c0 CAID:CA10549367 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 15e244af-4955-4100-a862-23e50df31359 CAID:CA10549367 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dfe774ec-cb0d-403a-a047-8499d88504be CAID:CA415080522 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d84194c0-e374-4318-a054-8e0b6f996474 CAID:CA415080522 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 51fe1e0a-8ff7-4c9c-aa74-a115c7eb6313 CLINVAR:410218 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d9a3c793-cb4d-4a49-8d15-7a8d3f70ae3b CLINVAR:410218 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e64ede9f-9f6a-486a-b756-5edd8d3565fe CLINVAR:488696 biolink:causes MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1d13c78f-c564-4df4-a3b6-0ef743d8a2bb CLINVAR:488696 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f64e1e4c-2599-49fe-a697-a63b3db9e718 CLINVAR:1066149 biolink:causes MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1a34142f-d0bb-43ec-aec9-e1284d752f3b CLINVAR:1066149 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8f5fe808-eaf0-4749-bee2-aee4d60fee84 CLINVAR:1305363 biolink:associated_with_increased_likelihood_of MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen be9c2c7e-37ce-4b7f-82c1-ba3830680ed1 CLINVAR:1305363 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fdcfd2a4-37fe-45cf-9af7-a257c9c379bb CLINVAR:633275 biolink:associated_with_increased_likelihood_of MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e6a22ead-3646-4a6d-beee-3bbf875e17fe CLINVAR:633275 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cf99a4b9-1ee2-4078-bf73-fe57e1ac8f74 CLINVAR:1677132 biolink:associated_with_increased_likelihood_of MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen dc991059-9bdd-4315-8bf2-77d10f137b7e CLINVAR:1677132 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 280ebde4-2280-4cb1-bbc2-8584fb056d44 CLINVAR:9363 biolink:causes MONDO:0010938 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 93a629d0-d6e7-428e-b36a-fc8a45a4957f CLINVAR:9363 biolink:is_sequence_variant_of HGNC:6193 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9bad56fc-7e73-4ee7-bc59-3c525fd5c45c CLINVAR:9364 biolink:causes MONDO:0010938 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2f8c2583-ca2e-4e4f-8f82-4f5e8ffb924a CLINVAR:9364 biolink:is_sequence_variant_of HGNC:6193 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b20eee46-9f99-477a-b55a-bf2f3e1e8fe6 CLINVAR:1708141 biolink:causes MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 16c8eec4-4d96-417a-ac8d-41a77be2698c CLINVAR:1708141 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dffd1500-322e-48f6-92cc-522cdf24772c CLINVAR:968126 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4c2e2575-aac1-42ca-a5a8-bec8a970cf89 CLINVAR:968126 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1aad30db-38f4-4e59-8d49-3c8eb29b6117 CLINVAR:653423 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 62c909ac-14be-483e-ae78-0f9caf345166 CLINVAR:653423 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 79d6b9ee-a784-4573-b605-6b607f2899ce CLINVAR:646928 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen de1b129c-8a47-4797-b7f1-ee6f3bde992e CLINVAR:646928 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 42a1b247-0261-4582-ad0e-9a3de259da7a CLINVAR:576525 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fa1bcf6c-3f77-4703-ae65-19c0a9f83cf2 CLINVAR:576525 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 63519fd9-1bf4-4938-b923-bd5db33ae5b0 CLINVAR:647111 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f2b38de2-2c06-4c14-ac17-39da74b8b941 CLINVAR:647111 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2cbbd09c-fd7e-4cec-a26f-bdda41d18323 CLINVAR:1022921 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6c36f9a2-fdc2-44b3-91eb-604fcf70522d CLINVAR:1022921 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ae70baa0-a5c5-47d1-947c-f8d1c40a0f47 CLINVAR:299320 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ba34785e-0b8f-4c56-93d1-81f226125abb CLINVAR:299320 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d512a385-df1f-4996-b441-36d291f18257 CLINVAR:1042451 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d8bea46a-54ff-4580-966a-0b44a7236d52 CLINVAR:1042451 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 34944405-41b3-41a2-94e9-9cac074b5cd5 CLINVAR:288327 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 01991f1e-b7fe-4e52-8916-baa1bdec70f8 CLINVAR:288327 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eccbf7ad-4342-4085-8921-4736bdd7a93c CLINVAR:1965651 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c57fe67d-6348-4623-b4d0-4faa46ac0477 CLINVAR:1965651 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 64b9aaf8-bd53-4478-996a-651d4d4d81f2 CLINVAR:666119 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7dd514aa-8d1b-432d-a21f-8a4b160868fa CLINVAR:666119 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a231d64c-cf95-4e72-8105-192bf9304dd7 CLINVAR:879948 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen dd7a8580-97c3-43a0-948f-f158f2f47732 CLINVAR:879948 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 477f3b55-f956-43cb-ba04-0b4363390a20 CLINVAR:1511542 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 344cf18a-8f1b-487e-9535-5c31026641fb CLINVAR:1511542 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9930c8b7-99cd-49a5-b2c8-fd93606217bd CLINVAR:1013704 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0bc98d9a-0a1f-4d84-a533-44f72c19d85c CLINVAR:1013704 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3ac3a7da-a4dd-4995-9e07-792e93a4226f CLINVAR:879949 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1f1ff238-9b10-489c-a1e3-a35869edf998 CLINVAR:879949 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 362c61aa-a244-4fb9-a61a-b46558027b85 CLINVAR:1514295 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2278a359-a2e8-4ffb-9d30-3f40f89ab248 CLINVAR:1514295 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1e1610f2-0868-49cf-a4dc-a3cef3c5506b CLINVAR:648065 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e151b2f5-5fa2-4ca7-969e-06d3489a8bdc CLINVAR:648065 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 02b4e928-2fbd-45b3-b44d-e7e1fb45af64 CLINVAR:1144398 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 25ef42d7-edc4-4f1f-9991-3ea1a83a297d CLINVAR:1144398 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4c98f96f-e8cf-4bba-b71a-9b1b1e41d0a3 CLINVAR:418656 biolink:causes MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 171b507e-699a-412d-9bec-d5f1be498d4c CLINVAR:418656 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e0d9cbb8-4664-4805-9a8a-c526822dc509 CLINVAR:2138599 biolink:causes MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen bcaaa8f1-0205-4ef0-81ed-fb81f2466bd3 CLINVAR:2138599 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 36e21569-15bd-40af-a845-12f3e8aae1dc CLINVAR:1507904 biolink:genetically_associated_with MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e44bc535-2a60-40c1-bedc-3ee2006ef593 CLINVAR:1507904 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e8df245f-bf1d-402a-8d81-aa7ecb26b712 CLINVAR:1411137 biolink:causes MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0692ff82-a152-4334-bad1-01bced5738ed CLINVAR:1411137 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b7704bc9-8b7b-4e03-bafa-fd08172417d5 CLINVAR:463384 biolink:causes MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0816f065-94cf-461b-97b2-82e73ea470ed CLINVAR:463384 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b4fc9e97-d6aa-4ccb-b642-6e88160eda7a CLINVAR:36388 biolink:causes MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d044ad29-1e6f-40f4-afb2-b9ab77cc110a CLINVAR:36388 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 156be64c-22e1-4136-adca-a8596b1210fe CLINVAR:503682 biolink:causes MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 92d26084-d699-462e-afe7-9029b13f9454 CLINVAR:503682 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 04e1c782-b045-43c5-99eb-acfe6528de99 CLINVAR:1172577 biolink:genetically_associated_with MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 152e0284-50c5-4399-a1a5-04e11b08b27a CLINVAR:1172577 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ecc4a151-fc2d-4be6-83cf-9195fe7ada18 CLINVAR:1066837 biolink:associated_with_increased_likelihood_of MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 69ca223c-ced3-4165-8c21-a7f2b38298e2 CLINVAR:1066837 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 12dc8d40-2b3d-4c8d-af72-99d37352e766 CLINVAR:463378 biolink:associated_with_increased_likelihood_of MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ad1ec688-92ea-44ac-a35a-900dc0ce133d CLINVAR:463378 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ec775268-2d27-45e7-98ec-282f1a39863e CLINVAR:624606 biolink:genetically_associated_with MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen da0537d8-fda7-4f49-8c22-d05173e8e575 CLINVAR:624606 biolink:is_sequence_variant_of HGNC:9832 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3b3f0231-1443-4d70-abcb-0720941a6043 CLINVAR:955439 biolink:genetically_associated_with MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 587b1ce7-a7d8-438e-aa1c-8aa68f64b8ab CLINVAR:955439 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ccd11a25-b083-4d23-a063-04aae029b9ce CLINVAR:449383 biolink:causes MONDO:0000572 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 19dacc67-c223-4600-9f28-b637ae4e8b3d CLINVAR:449383 biolink:is_sequence_variant_of HGNC:9831 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9da7ae04-547c-4cef-a226-873e62bfda93 CLINVAR:353268 biolink:genetically_associated_with MONDO:0012163 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d79ee800-3fe1-45a0-bbc9-a802a219dd3d CLINVAR:353268 biolink:is_sequence_variant_of HGNC:6024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ef045497-fc1d-4009-bc43-c5a6a592f951 CLINVAR:418257 biolink:genetically_associated_with MONDO:0012163 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 43698fe1-7aba-4c9d-a647-7674d800e125 CLINVAR:418257 biolink:is_sequence_variant_of HGNC:6024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9d4fa759-d057-411f-b0ca-39dcc337d713 CLINVAR:1393864 biolink:genetically_associated_with MONDO:0012163 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e6631f47-039d-44bd-a434-0bbfc8261c78 CLINVAR:1393864 biolink:is_sequence_variant_of HGNC:6024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b7e3dbbb-7cf6-46d3-a059-c239d78631a3 CLINVAR:555727 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6c04502a-13bf-4c88-a107-98d91175a7ea CLINVAR:555727 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9a516d80-cbbe-42c7-9458-cdd902d998f5 CLINVAR:1901446 biolink:associated_with_increased_likelihood_of MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a2996b37-2087-412e-bf5b-0c3953ab265f CLINVAR:1901446 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ad927a20-1f5a-42ff-bb48-6cb358b94e57 CLINVAR:444650 biolink:genetically_associated_with MONDO:0012163 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8ebaac96-8d18-4171-93a6-79a4e344f012 CLINVAR:444650 biolink:is_sequence_variant_of HGNC:6024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9e440d7c-1620-4ff2-a798-2ec38110fda9 CLINVAR:1068066 biolink:causes MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2bd5de58-4bab-44de-b852-2d439eafae2a CLINVAR:1068066 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 403624f7-4f91-4ba1-83c8-e71272148d79 CAID:CA1139771069 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen df808a70-4a9f-43e9-bc78-9edb2762453d CAID:CA1139771069 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aa15ed25-58e5-4013-9ad6-c1d2928695da CAID:CA1139771060 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a44e51ad-2722-436d-8d6c-dbf4ef75195d CAID:CA1139771060 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 41ddc681-2dc8-48ad-ade2-21f3eebe613a CLINVAR:2820100 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b7d54637-3e1c-4274-b841-09ba34cdb418 CLINVAR:2820100 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a54c34fb-d8f6-4751-a4ab-13ad181b836f CLINVAR:1710503 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d4eabd03-6fe6-4a14-a19a-3c712a329599 CLINVAR:1710503 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 739795a2-802b-4d35-a35c-154801c55bab CLINVAR:1484777 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 889dcd43-1515-4a62-ab4a-6acf0e83c09e CLINVAR:1484777 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4f4f499e-f44c-4729-9915-23d3951d8252 CAID:CA2695237935 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a88e1e3f-0a3c-42b4-ae52-f75921632a7a CAID:CA2695237935 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7e8b8577-d1c1-4353-8744-5bacefd5f6dd CLINVAR:561109 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 85b809dc-7c98-4efb-83d7-7b63a9e7b5ee CLINVAR:561109 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 69fa4a53-a5bd-4bff-abdd-0e5b6cc2d600 CAID:CA415086032 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b58d02e5-ff23-404a-98c0-a094fe57cebc CAID:CA415086032 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 278731e7-98d0-49ab-ab26-cdaeae3f43de CAID:CA2579916736 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f327902f-a1fb-4357-9ed1-975702e82b6e CAID:CA2579916736 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen afc5a345-f470-4cc7-811f-1bce983366d8 CLINVAR:428806 biolink:causes MONDO:0008667 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen cb38dfae-f214-4895-879d-f6d71ea66616 CLINVAR:428806 biolink:is_sequence_variant_of HGNC:12687 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cec1fca5-12b2-43a6-af4c-3c3bee45c3aa CLINVAR:223171 biolink:associated_with_increased_likelihood_of MONDO:0008667 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen cc41a844-d046-4c8b-acaf-3da9a377d48a CLINVAR:223171 biolink:is_sequence_variant_of HGNC:12687 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 51ec6659-9591-4dd7-8fc1-7817301027a5 CLINVAR:526679 biolink:causes MONDO:0008667 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b43718a3-e290-4a5a-ad6d-a65804544f52 CLINVAR:526679 biolink:is_sequence_variant_of HGNC:12687 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2e90be02-eb12-402a-88b1-a9a984aeb38a CLINVAR:526673 biolink:genetically_associated_with MONDO:0008667 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 089d133d-3732-4830-9722-55846a1902c2 CLINVAR:526673 biolink:is_sequence_variant_of HGNC:12687 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2e1172e6-c821-4214-bbf6-24be04a8e4b4 CLINVAR:43597 biolink:causes MONDO:0008667 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen bd7cec0b-78e6-4110-8337-2480a013471f CLINVAR:43597 biolink:is_sequence_variant_of HGNC:12687 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c443f9ca-36b6-495b-8582-06a669b080dd CLINVAR:560745 biolink:genetically_associated_with MONDO:0008667 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 66d3b57c-c5f3-4f30-a39c-6f84972539d6 CLINVAR:560745 biolink:is_sequence_variant_of HGNC:12687 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8a633024-12f1-49df-9c96-763319543b9e CLINVAR:2225 biolink:genetically_associated_with MONDO:0008667 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9fef123e-aadb-4045-a32d-d0f2e0d98d1a CLINVAR:2225 biolink:is_sequence_variant_of HGNC:12687 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f99098ec-9d15-472c-8c09-afe3e772dc60 CLINVAR:440404 biolink:genetically_associated_with MONDO:0008667 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7df38926-c2ca-4235-8829-809616188971 CLINVAR:440404 biolink:is_sequence_variant_of HGNC:12687 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6ff9564a-6cdd-443e-8996-b331fd97554b CLINVAR:196284 biolink:causes MONDO:0008667 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6ef0f773-b887-4c41-af15-59f3d7f5e68d CLINVAR:196284 biolink:is_sequence_variant_of HGNC:12687 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8d6f1def-2fa6-4e17-971c-4b961df691ea CLINVAR:428794 biolink:causes MONDO:0008667 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9a9762c3-9524-4c0c-adbc-f0b08a0ca1be CLINVAR:428794 biolink:is_sequence_variant_of HGNC:12687 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 50794f41-e88b-47ae-86a8-7adf7045d9c4 CLINVAR:2216 biolink:causes MONDO:0008667 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e6e580d8-39b6-4ae0-be35-2dd0f8091daa CLINVAR:2216 biolink:is_sequence_variant_of HGNC:12687 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a0a1b718-a16f-41a3-9f08-3b0a59d890af CLINVAR:182959 biolink:causes MONDO:0008667 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d85fb403-c406-471f-a27d-940760398ba2 CLINVAR:182959 biolink:is_sequence_variant_of HGNC:12687 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a5fe2b58-405f-4c73-9b51-0f41eca0283b CLINVAR:411979 biolink:causes MONDO:0008667 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2062805e-f29f-4d55-bda6-2f23e4f2ebc7 CLINVAR:411979 biolink:is_sequence_variant_of HGNC:12687 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen feca1dd6-e6ce-4282-8578-29649dd61e92 CLINVAR:43601 biolink:causes MONDO:0008667 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9505bfef-3c8e-4b9b-a7da-31b479cc0dc3 CLINVAR:43601 biolink:is_sequence_variant_of HGNC:12687 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 88345a4b-7445-498a-a1bf-0baae061b08c CLINVAR:141044 biolink:genetically_associated_with MONDO:0008667 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 43146140-d0b2-44f0-88b2-0fbb1eab6e3b CLINVAR:141044 biolink:is_sequence_variant_of HGNC:12687 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d5d3bb67-56f2-4426-88ab-345b0646d0ca CLINVAR:223194 biolink:causes MONDO:0008667 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 459629c1-7443-4c68-a4fc-3453bbc10257 CLINVAR:223194 biolink:is_sequence_variant_of HGNC:12687 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 564a755e-3dfa-41b3-9729-7ecbd1184c57 CLINVAR:411994 biolink:genetically_associated_with MONDO:0008667 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7f9a3804-ffc5-40bf-90fe-3c4cfb861337 CLINVAR:411994 biolink:is_sequence_variant_of HGNC:12687 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cef05eaf-0243-48a4-ac1e-3ec3fc294c5a CLINVAR:411978 biolink:genetically_associated_with MONDO:0008667 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 78df8915-3216-4459-b1ea-c86403292e33 CLINVAR:411978 biolink:is_sequence_variant_of HGNC:12687 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5dcb231c-b899-4d16-8d00-10a8e89e7d20 CLINVAR:182977 biolink:causes MONDO:0008667 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8e381d10-95c7-4304-93f1-1cff655af2ca CLINVAR:182977 biolink:is_sequence_variant_of HGNC:12687 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bd0cd1cd-d329-45b5-be22-f6e17ea6ee20 CLINVAR:93326 biolink:causes MONDO:0008667 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e0d06f3a-2d06-4f13-98b0-23a2b2a9ef13 CLINVAR:93326 biolink:is_sequence_variant_of HGNC:12687 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cba38246-cfe7-4cb1-91d6-40c00f5ee633 CLINVAR:941841 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0a6e3aca-ea56-4183-83d9-91ba1720b6a2 CLINVAR:941841 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2589dd23-4a47-4f96-a7f1-bb6ca7fe3460 CLINVAR:655729 biolink:causes MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3a3d18e0-4c46-4fdd-8c84-848f6c4ce15c CLINVAR:655729 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fab15134-1f17-49ab-85df-ad9995e83538 CLINVAR:378124 biolink:genetically_associated_with MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7af1623e-d2bc-4857-b6de-a6c23b036457 CLINVAR:378124 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2a4ff716-0aae-4e80-9703-9af351e7a04d CAID:CA2582115078 biolink:genetically_associated_with MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ce3a5f26-4103-454d-8f95-c6b6204cbb95 CAID:CA2582115078 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c0294adf-b631-4c46-8d96-5224c20248c4 CLINVAR:1391239 biolink:causes MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2592a8cf-ac18-4ec8-a3db-03f5117474e3 CLINVAR:1391239 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0c33d885-9f4d-4e9a-a94d-4442de6e3089 CLINVAR:1334161 biolink:genetically_associated_with MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e8f4d962-184f-4d3e-8f8b-6144bca574ba CLINVAR:1334161 biolink:is_sequence_variant_of HGNC:4284 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 299cc5f9-2fa3-4cf1-9c6b-434a8f18530b CLINVAR:438620 biolink:associated_with_increased_likelihood_of MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c7179b2d-5f63-4f09-93e0-1b8f2b536473 CLINVAR:438620 biolink:is_sequence_variant_of HGNC:4284 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9f176e80-c1af-46b7-a9c8-d1699bb613e6 CLINVAR:18009 biolink:associated_with_increased_likelihood_of MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 75ed9a3b-fab2-40b6-b1f5-849247820682 CLINVAR:18009 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f6660054-9149-4f6e-beb9-0c93770e619d CLINVAR:876602 biolink:genetically_associated_with MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen da93573e-8fbe-4a3d-b1ca-9b2beb45dd51 CLINVAR:876602 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c5c60e2e-5a8f-449a-bd36-c3110b32b91c CLINVAR:1301540 biolink:genetically_associated_with MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a4e15742-fec9-4746-8b54-0811d94db26f CLINVAR:1301540 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 455d7df9-e437-4489-a2d8-85ceb3d63b0e CLINVAR:627341 biolink:genetically_associated_with MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9ccce76d-ace8-4bba-8a2b-d160f248dd6e CLINVAR:627341 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6fb0bc2e-7029-45d5-95fa-6427bf8e3f9e CLINVAR:661606 biolink:causes MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 43596963-8297-4109-a399-d8806c874904 CLINVAR:661606 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f1b05eb1-570e-4d97-a53f-9c0492563ea5 CLINVAR:18030 biolink:causes MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a23c8a4c-8ce5-4646-bd27-907b33191458 CLINVAR:18030 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4165dbb6-8326-42d7-b8d1-da02875d1d0a CLINVAR:2267274 biolink:genetically_associated_with MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 300bb9a7-7df2-4cee-a1c6-f126eeb332d8 CLINVAR:2267274 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fa6aef34-cf58-4a59-a44d-0417c058cf73 CLINVAR:940768 biolink:genetically_associated_with MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 802c920f-8873-4750-b0db-d385f4603fbf CLINVAR:940768 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a0f1c39f-0fc7-46c4-b41c-f9d961f03bef CLINVAR:293841 biolink:genetically_associated_with MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9cfa45ec-f07a-4731-81e4-05bb328cda8d CLINVAR:293841 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4829ce91-e3aa-4071-8946-56ea6b4eb481 CAID:CA367402543 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen fc6d6c67-0c41-40b5-872e-56533a1e41d2 CAID:CA367402543 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aecce2f0-b05b-440b-8e7c-b91a12b8b7fa CLINVAR:3358853 biolink:genetically_associated_with MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ae6c6143-9403-46a5-9c92-b48de8b75799 CLINVAR:3358853 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 93478118-44cc-4c5a-9dea-4b72602721f0 CLINVAR:993916 biolink:associated_with_increased_likelihood_of MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 02765651-bdb2-48b9-8ba4-330c62b1f0c0 CLINVAR:993916 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bb4f93f3-937c-44d7-97a8-2d3edbe8a0c2 CLINVAR:10253 biolink:causes MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 49e494c7-06d0-48d3-ac81-887dc5234c01 CLINVAR:10253 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7d3bdb00-bfe3-49aa-8a8a-3e75a369ec6d CLINVAR:10236 biolink:causes MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 28e81227-1ece-4862-838c-1e8c75f790bf CLINVAR:10236 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9725f5a6-e23f-4279-9090-b1f25fe0f1a6 CLINVAR:2775446 biolink:causes MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen fc334863-2fd8-4a30-99cf-c9e6e372c733 CLINVAR:2775446 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7c356f0f-c771-454f-9fa8-06a1444b5fad CAID:CA414916097 biolink:genetically_associated_with MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8fdda247-c57a-4e12-8402-5560f0605968 CAID:CA414916097 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1e1eca9d-aa7a-45a6-8c58-607a1be527a7 CLINVAR:10208 biolink:associated_with_increased_likelihood_of MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3ef55cf6-ff84-4e03-85dc-80f0c6a47759 CLINVAR:10208 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen de811fec-f46c-4713-a9c4-eb3a60ccf405 CLINVAR:10195 biolink:causes MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4da9d17d-ea77-43ab-af3b-6e9d45a77def CLINVAR:10195 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 13a6f771-8991-4820-9501-4079d158da07 CAID:CA414896830 biolink:associated_with_increased_likelihood_of MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 220e7451-9cd4-4809-93e4-79d698941544 CAID:CA414896830 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 222f4c2d-5265-449f-ad25-27e915230068 CLINVAR:10085 biolink:causes MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ebbb47b4-6b4f-4d62-b7b1-d1fd10076a41 CLINVAR:10085 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7810b70f-801e-4ca8-8d66-81da5eec1366 CAID:CA414447210 biolink:genetically_associated_with MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 077f42c0-217a-4ee0-820c-0be9452eabcb CAID:CA414447210 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bc368e5a-2c18-4519-a43b-58939d981a6d CAID:CA414447212 biolink:genetically_associated_with MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen cd5bd5cd-2ef8-4179-8cb0-720bad7ba583 CAID:CA414447212 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b6aa3f32-f47f-43fc-84f4-8e32ea6c964a CAID:CA414447216 biolink:associated_with_increased_likelihood_of MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 71af5ea1-1bbd-4b6f-ab7d-e6f108be5b1c CAID:CA414447216 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 954d8517-23e8-4ed3-ba3e-858aad91ffe8 CLINVAR:811512 biolink:causes MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 867acb21-da99-4c04-8886-599781ce7f2f CLINVAR:811512 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4498db23-5ac0-40a3-a1d2-0d992e32f48c CAID:CA414915809 biolink:associated_with_increased_likelihood_of MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b403877b-dfe8-4398-a452-8677bf342799 CAID:CA414915809 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 37cdf01f-7701-4749-a33b-642a4b9f6955 CAID:CA414447354 biolink:associated_with_increased_likelihood_of MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 025eb823-5f0e-4ed2-b293-7252e81299ff CAID:CA414447354 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9b7ad58a-08b2-4150-a384-caacab3d5989 CAID:CA414447351 biolink:associated_with_increased_likelihood_of MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e2230eb7-b24a-4efe-aed2-faa062ae9a84 CAID:CA414447351 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 27c7f965-9265-41f2-9b08-427077484b8f CAID:CA414446711 biolink:genetically_associated_with MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7a31c253-1f5a-4bab-913d-78693d02785d CAID:CA414446711 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d44b3c12-a111-4e5b-843a-c1e0536d90d9 CLINVAR:651569 biolink:associated_with_increased_likelihood_of MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 09ed14c6-6a2a-400f-9ec7-f1fb1806f2af CLINVAR:651569 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ec39e0e1-fb6e-4d10-9a1c-ae831e642d36 CAID:CA414445371 biolink:causes MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e294bcec-e83f-46ba-a0b1-0cb7e5aef16d CAID:CA414445371 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 89ef0767-3e23-4438-8d10-cac174ebd362 CLINVAR:626950 biolink:causes MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 14b03a39-33a5-4281-8271-cb86205a5bbe CLINVAR:626950 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 193dce14-a679-4214-a623-aa28a90df83c CAID:CA414447533 biolink:causes MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b034c7f0-20ab-4171-a198-96097fbca4ad CAID:CA414447533 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b407af2b-d36e-4902-8c3f-80313b1fa29a CLINVAR:10587 biolink:causes MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7f16593d-9894-4c91-b794-6b75a629d630 CLINVAR:10587 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5532afb7-0edc-43cd-97b9-12278e2943e8 CLINVAR:10585 biolink:causes MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen aaa92d5f-ee10-4a51-96a5-3ebbe1c2d6cc CLINVAR:10585 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen af3abe45-f151-4d2c-9365-03e6037bb1a0 CLINVAR:810867 biolink:causes MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 78ec6c3e-362e-4662-8efc-892df539222c CLINVAR:810867 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 26345d02-9bc7-4b70-a1ea-7643530ecc72 CLINVAR:10572 biolink:causes MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 625ca7e2-5130-4096-9fe9-dadfaab2e9d2 CLINVAR:10572 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 918f3122-c529-4825-a8b0-5a808989f92a CLINVAR:216926 biolink:causes MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 58a8411f-a05e-46dd-ad19-c430a69d5d83 CLINVAR:216926 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1f4eb465-470b-4e9c-ae1e-5a04f6092c80 CLINVAR:10579 biolink:causes MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f94de33f-b2f4-469e-ae25-a6dd659d99de CLINVAR:10579 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fb5f43ea-5e3c-41f7-a2a1-282576c44848 CLINVAR:2775451 biolink:causes MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 11af85b0-6eb9-48a0-b812-939cba299801 CLINVAR:2775451 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 461d82d7-3011-417b-be40-c190aa730efe CLINVAR:2775450 biolink:causes MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 995768c4-10a9-432e-985a-0a18e642fe70 CLINVAR:2775450 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 635738aa-94d5-498f-90f2-b4b7c2fd214d CLINVAR:627328 biolink:causes MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3a254c69-0009-406f-8e0a-427e5bd73764 CLINVAR:627328 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ebddc814-370b-48a3-8b66-f59883bffe97 CLINVAR:10256 biolink:causes MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4416ab8d-898f-4fdd-894e-76243845ce86 CLINVAR:10256 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f32b8eab-a7a5-4c4c-8c3c-32b82430bd69 CLINVAR:10294 biolink:causes MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen cb7c579c-7c71-408f-82cf-c6f91d2f9528 CLINVAR:10294 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0758f8fe-fac7-4cf0-8422-de063b789bae CLINVAR:10274 biolink:causes MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5b264db2-639f-474e-9881-088bf5463083 CLINVAR:10274 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 68ba737f-3559-4e4e-8e2b-0fedb0b38f80 CLINVAR:2775449 biolink:causes MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1578520b-4fd5-44a9-a217-f2dd711e3129 CLINVAR:2775449 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 491a2871-4a7d-4c4a-bd23-6d6e57af5aee CLINVAR:10232 biolink:causes MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b9a509f6-f55b-4e02-8d02-f4394caa3a4c CLINVAR:10232 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ea4b1a2f-656e-43e8-87f9-3c83e2277586 CLINVAR:10247 biolink:causes MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3152c80b-52ed-47bc-b6d1-0d73c550e434 CLINVAR:10247 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 22dd538f-7996-47a7-bdee-f2858e008f8f CLINVAR:2775448 biolink:causes MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4bcb4714-039d-45e4-a324-6b8dde79b965 CLINVAR:2775448 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7429d87e-ceb8-42e2-86cb-140cdac8a6e3 CLINVAR:10139 biolink:causes MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b795b53e-26ea-4250-b518-af206d6fef73 CLINVAR:10139 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 42d8a8ca-7f6f-4216-afe6-7e5f37ffbcb5 CLINVAR:2775447 biolink:causes MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen fe698148-a45e-4ee2-85b3-c0d7235a521a CLINVAR:2775447 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen edcb9e66-aa52-4abc-b392-124793596629 CLINVAR:10304 biolink:causes MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1b5f785a-13d4-48ca-b2ee-dd7717cda446 CLINVAR:10304 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fb2c581c-af61-4c03-a560-aded0d2e6b7f CLINVAR:10327 biolink:causes MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 76cedab6-7091-41aa-b611-e511380b6afa CLINVAR:10327 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e81a2ff4-6066-4e65-97e5-fc1aa7697db7 CLINVAR:2775445 biolink:causes MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c16ec97d-7b4b-4d4a-b6aa-15f80cfd8525 CLINVAR:2775445 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 616025c5-92d6-42f1-8c10-8e56de13e22d CLINVAR:2775444 biolink:causes MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 416bd21c-e278-4e53-a3b3-220e9f2c5324 CLINVAR:2775444 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a3b1611b-413d-40ba-a257-980e4b975954 CLINVAR:627165 biolink:causes MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen afa6ae82-1b7c-44ff-918a-d7e67de2d23a CLINVAR:627165 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 00df7fc0-9407-4f34-85b9-021dba3afa46 CLINVAR:449370 biolink:causes MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ebf1f496-6404-4290-a7ea-a7a9f5c6dee7 CLINVAR:449370 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c80e9928-4f5b-423b-ac9d-1e12ed5281b3 CLINVAR:618104 biolink:causes MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d5d3404f-9084-47ff-a3fd-5f4640b62de0 CLINVAR:618104 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3974390c-7719-40ee-8cd5-fdad352c7bad CLINVAR:10226 biolink:causes MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 34883e16-f1f3-4815-ac8e-e5e2fabc0de8 CLINVAR:10226 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 48b63b1c-fe48-49e0-b7ba-c2232a001ad7 CLINVAR:10225 biolink:causes MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 697a5c6e-4bce-4c50-8a55-c2fae7ef777d CLINVAR:10225 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 23b79ab7-ae61-48ed-ac7b-29dc0cdd8477 CLINVAR:2130981 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 04d246cd-60e9-4e75-9712-2687c7a5da97 CLINVAR:2130981 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8307d556-077e-4240-944d-2b3be15c47f3 CLINVAR:580214 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 018969bc-8094-4ed6-80d5-be3b2465d852 CLINVAR:580214 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 408c5ee0-8641-4abc-93fa-6f8b165e690f CLINVAR:843571 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b9bef067-1ae8-4965-8e3e-16761b029e9d CLINVAR:843571 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c1788597-1a70-49cb-aba8-d5e327cbbc55 CLINVAR:1692640 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 16d955d7-2923-42b9-864f-4ac418db6fb4 CLINVAR:1692640 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 118c7085-dce2-4635-a5fe-a3bf5d92d898 CLINVAR:948047 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d4e285b5-cfad-4102-8f4e-d68586653ae4 CLINVAR:948047 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f4344ca1-ae73-4f93-b3f0-c75de72e6701 CLINVAR:1053850 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 09139d7e-09c6-47c6-abe2-b295cd3345e9 CLINVAR:1053850 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0dd3010b-346e-447f-83b6-4276271535cd CLINVAR:837414 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1951b1cf-442e-41f4-ab3c-761263743068 CLINVAR:837414 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1812d9b7-e006-4dd7-a7a3-663a77c9af4f CLINVAR:1424427 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a1b69daa-dd1f-4e9c-84c7-0f4e1d3edbfe CLINVAR:1424427 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d34628d1-9029-4607-80d5-bba13968fce3 CLINVAR:2435493 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 22dbb997-afcc-4933-9f0d-1a2c4223b751 CLINVAR:2435493 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6ea3bd7c-823f-4776-b5ac-b23640cacc84 CLINVAR:1482695 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1068e1ba-3c87-4d62-b513-432ea6f72cd3 CLINVAR:1482695 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0228d80b-9041-4b88-bd07-a819b05a59aa CLINVAR:1722154 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 28a4f709-e899-49c3-9831-1c13959472d2 CLINVAR:1722154 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 68351df2-1545-4dd7-bf6e-c543a83bb4d9 CLINVAR:2047695 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 867b64fa-85a9-453b-b100-2215897eee35 CLINVAR:2047695 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 358f1dca-8dc8-43e9-b01a-e0bebd9e5cfd CLINVAR:1487660 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8ec3b5b9-0a97-4b7b-9fbd-00c0561fdd97 CLINVAR:1487660 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7eda8443-427b-439d-be85-4748910c68bc CLINVAR:1722136 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7c1b72d5-7a94-4840-b191-b1412060d32c CLINVAR:1722136 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 331716b2-4157-4abc-a2f6-7730bc6121a9 CLINVAR:1692648 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 48f33c8d-889e-4b6c-8a5c-143ab6b45eac CLINVAR:1692648 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b7ef4f38-903f-4630-b254-553ac023b452 CLINVAR:1352428 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5826dddd-165d-45d9-82d4-68a1a580d2c7 CLINVAR:1352428 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fc79ee00-39d6-4e20-8501-52767e8e11a6 CLINVAR:951606 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ed89d31f-a399-42fa-9d7a-b6f8539dc4f5 CLINVAR:951606 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b0285507-9737-42b7-ab8e-f4750acf9002 CLINVAR:464004 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0ce143a0-7917-490d-895e-981bfa6cac70 CLINVAR:464004 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen df430bed-1ab8-45f5-ad1f-df2480081218 CLINVAR:1703791 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9f0ec3ce-9ab7-4acd-8177-514083f1c90d CLINVAR:1703791 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6bef9988-58b8-4425-8248-b6c8e56b6a0e CLINVAR:1024050 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fdfca0f4-8a36-47fc-bc58-3030d90d599f CLINVAR:1024050 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7ec7a0d9-bdff-4563-894f-76118839449a CLINVAR:239046 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 589b0dcd-3636-4497-b113-debac5ed37ca CLINVAR:239046 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5096ce68-c0e8-4200-85ba-39387eb181bf CAID:CA410202636 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a256c2ce-fb4f-4a55-a626-8486e17847fc CAID:CA410202636 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0bea21b9-b23d-41b5-bf7c-405b1c78e491 CLINVAR:436615 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9a26590d-5fc2-4594-a24b-35ffedf50733 CLINVAR:436615 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d708566e-da4a-4c70-83b5-4f190b04bef8 CLINVAR:853648 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2ff5b097-c836-43fd-b321-f16ede263a08 CLINVAR:853648 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f1ebc434-df0b-4fea-a7b7-61c8ef8945c9 CLINVAR:856424 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 51cea95e-64f0-4220-b65f-aae2d325b122 CLINVAR:856424 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 70464c19-c070-421d-9406-bf1807f3d2ca CLINVAR:860155 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b2cf279b-0694-4cad-b0d5-75d1d5faa4af CLINVAR:860155 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 16394f8c-011d-4ecd-bd67-feaf0ccc4fec CLINVAR:1496304 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 75ae6613-ea23-4ece-9b4a-5a00829b3b11 CLINVAR:1496304 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 970773ba-5b57-408b-b00d-b93fda9b728c CLINVAR:463983 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f8aa46a8-470c-44d2-8894-54167dc0bb3b CLINVAR:463983 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a1406b59-a05d-4785-9a94-4f8aaaf99b82 CLINVAR:1709200 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ed89b826-155f-4b13-9a4c-67588a03a7f1 CLINVAR:1709200 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4919b273-08cf-4b35-9297-addc74f68038 CLINVAR:1016458 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 783e7535-01f2-447b-83a7-82495de23071 CLINVAR:1016458 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 605a7393-f1de-444f-b790-1983b8ec04ea CLINVAR:962678 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b3fb0e15-1bc1-4c50-bb5d-d67715938fbf CLINVAR:962678 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dddfea3b-f8e9-451d-a7f4-b9c977f00845 CLINVAR:959847 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4db71aed-8b8c-4e20-81fe-d2e9ae3246f4 CLINVAR:959847 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ef6c8b53-f9d9-4813-9b97-4e8736d4c0e0 CLINVAR:956754 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a64b96c1-8acb-441b-924f-0c264cbeaacb CLINVAR:956754 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a31d5642-638d-44ca-82c4-8b21e27117a4 CLINVAR:949338 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 42817296-63e2-490a-9312-cfa917b34b72 CLINVAR:949338 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6368e7f4-4082-4b35-bcde-7e0fb106d058 CLINVAR:860286 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b8856a34-d177-40ed-8075-40fa76546af8 CLINVAR:860286 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 708feabe-3d45-4a27-9edb-4a818fc91927 CLINVAR:845897 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b4767f60-4c32-4552-b8b4-3406e39e9968 CLINVAR:845897 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 688d461c-04dc-4669-8126-26e0e1c37139 CLINVAR:655133 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7c23bd9d-e1e6-49ce-bb0a-bb564d94a620 CLINVAR:655133 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 03c52f75-fdbe-415d-bc2b-fb6d4e574408 CLINVAR:1401789 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9fd0b531-f8a0-401a-b57d-c965c2998d50 CLINVAR:1401789 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 137da142-5d53-414d-9581-26ee30da7bf7 CLINVAR:570999 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1a4a1ea0-98ef-4e11-ae2e-faeaf35d58c7 CLINVAR:570999 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d95d28e7-536e-47c8-b68b-721a1e6ab926 CLINVAR:1359458 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b31fa9d3-7382-4e1f-ae82-0def00bc50f1 CLINVAR:1359458 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1ebc02a2-bf76-46f8-9e28-577d41ef53d5 CLINVAR:2087940 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 206cc19a-40c8-4dae-9b11-591a4dbc4010 CLINVAR:2087940 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1851564a-e394-4fe3-aa33-a227f090c759 CLINVAR:409825 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5325df46-9a2f-4be2-96c9-55a5f0f4e389 CLINVAR:409825 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2db88c00-ac50-4fce-ac81-df7568f1d96b CLINVAR:561241 biolink:genetically_associated_with MONDO:0100083 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e2e5a5fa-bdb1-4771-93d4-fc59d1e29dbf CLINVAR:561241 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eab6a6a2-ff85-4c0e-8e3b-d7730111d71b CLINVAR:862114 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1da16c4c-c2e0-49d1-a005-31d58f9a8ec0 CLINVAR:862114 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 37c4b5d2-c698-427c-bae6-799538bc935a CLINVAR:561239 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 82401a31-ef7a-48d9-9aca-5e61222a80f7 CLINVAR:561239 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 54e66dee-d32c-4d74-a707-c79407e47778 CLINVAR:1692641 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a1d0b226-5526-42bc-9d64-a3ba5cfb67ef CLINVAR:1692641 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 217cb4c9-2e50-4f7a-9e15-4ff8460ab1d4 CLINVAR:1692642 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5236a960-847d-445e-84e0-79962b955f3c CLINVAR:1692642 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 54aa10d5-e6b4-4cba-9785-2b5922b4e1f1 CLINVAR:1389496 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 749cad70-f6c0-43cc-ab34-f4ec14b48e79 CLINVAR:1389496 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cf8fa3ef-7d14-4c0f-abf4-2fe3459d5ea7 CAID:CA410202624 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c11c1eaa-26a8-48a8-a71f-dc47bec57c1e CAID:CA410202624 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c7eed702-b9e4-4638-a2e3-7e3c8ddf9a82 CLINVAR:1005132 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1dce20e7-1c66-49c9-83b2-6c8854e1a482 CLINVAR:1005132 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7c69b7c7-dac5-409f-90ba-763ec647764f CLINVAR:968245 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a2f9aa5d-4774-4be8-92e0-2a562e6ebf4d CLINVAR:968245 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 815dbabc-2cf5-4e1e-a5d8-1fc9aba8add0 CLINVAR:2145852 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c3ad718e-765a-4a92-8d66-58207e0e155b CLINVAR:2145852 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen efb13433-4644-46b2-bfd0-3d0f6cebe671 CLINVAR:1721206 biolink:genetically_associated_with MONDO:0100083 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 776cbf31-e28b-4cea-b427-2c4d9d00a378 CLINVAR:1721206 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8189040b-6d14-4db6-8100-988753462f4f CLINVAR:1128874 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b96edaa3-840c-4683-bf93-f423f0917d9a CLINVAR:1128874 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bede5181-c453-4ce2-8770-f775d7f5d1f6 CLINVAR:1142515 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 143cfb57-9e81-49b7-a3d1-0f83b1202ffc CLINVAR:1142515 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b6ebed12-3447-4cda-941d-4ff9ed484700 CLINVAR:935710 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 188cb0c6-6827-416d-b734-182ff87aac75 CLINVAR:935710 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6c59766e-97f5-4388-a8ee-c55b98e927c2 CLINVAR:840868 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ceffd606-b086-47b3-bd8a-169342633dba CLINVAR:840868 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 24caaa99-781f-427b-89d6-41e8e9f914e0 CLINVAR:641150 biolink:genetically_associated_with MONDO:0100083 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 46e4bd42-4683-4b8c-a503-bd51381bec9e CLINVAR:641150 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 090d8f0b-fd1e-4085-8cdf-e1c2b98528d7 CLINVAR:660172 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8c57f84f-d5ff-4b82-907c-48671d7dd4b8 CLINVAR:660172 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a43ee636-2498-494b-b1b6-6f24a13e6c34 CAID:CA16020817 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 47408e58-a1a0-4a1d-ad25-6f8d15d1d72f CAID:CA16020817 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f51d3060-fe15-447c-b8be-7fafdc17718a CLINVAR:2226 biolink:causes MONDO:0008667 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 219b3fc9-2654-46cf-b465-c0ad7b1525e2 CLINVAR:2226 biolink:is_sequence_variant_of HGNC:12687 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c5fa4f81-68db-4cb7-86e2-fc789415a5c8 CLINVAR:182978 biolink:causes MONDO:0008667 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 07df5d6d-13e8-4e59-aa41-b8a5c91ad0bf CLINVAR:182978 biolink:is_sequence_variant_of HGNC:12687 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 179ca0db-27de-461c-956c-bf9d680ce774 CLINVAR:988847 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 86df859a-26e6-4ff8-9b02-5afd3278524f CLINVAR:988847 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 04551b4a-39ff-4820-b0c8-e31a161659f1 CLINVAR:1097518 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 08cca2fb-05f4-4b7f-8b3b-9559883c63ce CLINVAR:1097518 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 90c2e4c5-69fa-4ccd-b9aa-204092966d44 CLINVAR:1014459 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 704e51ba-11a6-42c6-b887-1a2371b6247a CLINVAR:1014459 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 853166bc-7fce-4237-969c-125a2819356a CLINVAR:464003 biolink:genetically_associated_with MONDO:0100083 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5a489e22-532b-4cad-95bc-5f8d9edd041f CLINVAR:464003 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5cc2c2d9-7e31-43dd-a5f3-b05211f1804e CLINVAR:1125165 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 03d31c0b-d954-469b-b631-10179798d712 CLINVAR:1125165 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bb0f22c3-c877-4ede-883f-161c00a3f2ce CLINVAR:1094989 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d6a969b5-8d41-45b8-bbc1-527083f83f47 CLINVAR:1094989 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aff44b3e-006d-40dc-b69f-466ece71d109 CLINVAR:1025166 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 03347382-25f8-4fd3-999c-7fae417b46df CLINVAR:1025166 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6dcd8eb8-0325-46c6-9855-c0786bbe12d7 CLINVAR:239050 biolink:genetically_associated_with MONDO:0100083 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d286fdea-1374-4cf2-ac12-b7743901a72a CLINVAR:239050 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 12669125-6508-484a-9f42-effc0c6a5644 CLINVAR:649370 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 69fefafc-fc3d-476b-a5ed-fbe3bfce9670 CLINVAR:649370 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 11e1cb7c-e176-4b2c-a306-c0e4a2684051 CLINVAR:1009786 biolink:genetically_associated_with MONDO:0100083 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3c596a86-fb96-4a29-900f-4ad568434184 CLINVAR:1009786 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ee5ad4fe-43d4-4cc0-8391-036e01d9df42 CLINVAR:1077574 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 728b9140-d203-49b9-93dc-73a989821629 CLINVAR:1077574 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1c034a5b-c8fe-4992-ad7b-1c9e42eec88f CLINVAR:1417068 biolink:genetically_associated_with MONDO:0100083 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2acdff22-6647-4349-8c32-34db5c51d1ea CLINVAR:1417068 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 822903c7-35d0-4308-a806-4437aa645e37 CLINVAR:2417866 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5bec7e03-05cc-4cd8-a309-ef70ff85ada6 CLINVAR:2417866 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dc603ada-0289-46aa-b160-419c7b4333bb CLINVAR:1524897 biolink:genetically_associated_with MONDO:0100083 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 79019c3f-d6f8-40db-b48a-ed38afe0ea13 CLINVAR:1524897 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 29905fe9-1339-4adb-bb8f-d43eaed22b36 CLINVAR:1496240 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 576cd8a4-96b5-44a2-8261-2d97f436d8b6 CLINVAR:1496240 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 549a6f7a-8f07-4d82-93b5-94dabcec0619 CLINVAR:2071711 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e6dd6041-a0a4-412b-a06d-10bf69194253 CLINVAR:2071711 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5f787337-381c-416a-b9ae-9ce85e765232 CLINVAR:1156194 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e4a99b14-3fa7-4ceb-900a-81a38322f211 CLINVAR:1156194 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3ac79b3c-9771-485a-8aa0-be2675f45fd4 CLINVAR:1321699 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 49df9ad8-07df-4c2b-a8a8-0690738e5579 CLINVAR:1321699 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6de242a9-1970-497c-8446-979f4eae2878 CLINVAR:1374525 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fd6c101d-b4c5-44db-84f8-765b2df438da CLINVAR:1374525 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 005a3b2e-e0cb-4cd8-bfa1-048e956753f2 CLINVAR:964908 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen dd64e704-7646-4d61-94ab-04f4e29fdf3c CLINVAR:964908 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 96788d4d-21b6-43b3-b869-b3fd972a2bcc CLINVAR:1052351 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fe032d9e-1a55-4387-9ecb-c0dc8f288019 CLINVAR:1052351 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 64959e6c-2e92-47d1-96a3-519e1a613044 CLINVAR:1348351 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 50922b22-7803-4132-a69a-8f3cd7923fff CLINVAR:1348351 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 80057eb9-75e5-4986-a7b2-4257a1c0d0d9 CLINVAR:1723808 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b75981b6-d6c2-4f91-8f93-2946f6ab301e CLINVAR:1723808 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1bcb9514-00bf-4d0f-910a-3ae4ba8343a7 CLINVAR:956982 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6c9f5066-8e04-4838-b7e5-c7182f6485d1 CLINVAR:956982 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5d81d328-3f87-4164-8f2b-9dc10aed65bc CLINVAR:2163996 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6e36fe6d-0ce9-482b-8061-8f85bd6c0091 CLINVAR:2163996 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5a726cec-7f30-4e4d-8123-36f77ef73c1c CLINVAR:837795 biolink:genetically_associated_with MONDO:0100083 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c8cf78db-1303-482c-b292-1146c2036780 CLINVAR:837795 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 98c4e717-5195-4b76-8c23-c05983d6962a CLINVAR:1396766 biolink:genetically_associated_with MONDO:0100083 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5de87519-9a95-47cb-91d8-e0312ee2caa6 CLINVAR:1396766 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 98864fe9-dce2-437c-bf40-0e49ce67d9c3 CLINVAR:532667 biolink:genetically_associated_with MONDO:0100083 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3974845d-0e97-4d1d-924f-a25fe34f8c1f CLINVAR:532667 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 662deb0e-0902-4b1d-9fd1-bc3236759489 CLINVAR:1010913 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 400347b6-47f0-4394-9042-7ca1d92e7f49 CLINVAR:1010913 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 47378a1e-5e77-4ed8-b61c-f991957c5a43 CLINVAR:1022052 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 02a3e428-df4f-4e96-a586-2b18f10d79bd CLINVAR:1022052 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 766fa417-96e0-4eea-8044-ed9499563170 CLINVAR:837567 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 12fd51b6-36c0-4bc7-86fe-4d07cf8688be CLINVAR:837567 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 98a6fed8-6f4d-4f08-aa98-698442b78d16 CLINVAR:2150091 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1a800344-3bce-4026-bbe8-ac6c77570951 CLINVAR:2150091 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3e21e7cc-08b2-413b-a1d9-2dd44b144a38 CLINVAR:1951250 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1ec70acd-bfa4-47b6-8658-8e3fefc2543b CLINVAR:1951250 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen db3f889f-8c7f-4fa1-844a-23b633831b8a CLINVAR:1533052 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4cd8bdb3-9ff8-44e7-b857-c304c088b07a CLINVAR:1533052 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 585547a6-ea95-42b5-a529-a984d8cf14a3 CLINVAR:2060504 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9b7b2281-47e0-4924-a770-17391f47a4a8 CLINVAR:2060504 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 633f8ce9-03f1-44a9-b2aa-d21419a79ba5 CLINVAR:1514344 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f609bd2a-85e2-48a4-826c-2c4b2485e994 CLINVAR:1514344 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 936770e4-173d-43a6-bc18-bfac02e7d5f9 CLINVAR:2002578 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 60f0bf70-befb-4eda-9063-3c56dc5e10a8 CLINVAR:2002578 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 785ac1d1-3ff5-4960-8814-46c5b61d2f9d CLINVAR:960077 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen af427f46-5931-405a-9d11-b2d8a7ef6e82 CLINVAR:960077 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bd62605e-32ea-4847-8690-f55316752895 CLINVAR:999481 biolink:genetically_associated_with MONDO:0100083 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0cf7038b-0d5e-403b-9d06-7e70641f0695 CLINVAR:999481 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f1797e54-95e8-4c6e-99cf-2128d70bc5f1 CLINVAR:986424 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ccb34385-6671-440c-9dc5-c2bfdca7960b CLINVAR:986424 biolink:is_sequence_variant_of HGNC:7489 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 52b7c443-8579-465a-95c1-d5d9475fc657 CLINVAR:9596 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0778236f-b941-4e17-8d58-e43d6b12efb4 CLINVAR:9596 biolink:is_sequence_variant_of HGNC:7490 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d1bf1e3c-2829-4756-8422-345ac16f2757 CLINVAR:689929 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b0a8277f-5557-47f2-a622-a4752738aa51 CLINVAR:689929 biolink:is_sequence_variant_of HGNC:7501 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6b5547e2-39c9-42cc-a7aa-fd24835c9739 CLINVAR:1679204 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e2419390-1902-4952-8634-109bda102434 CLINVAR:1679204 biolink:is_sequence_variant_of HGNC:7490 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5e3dd7d5-824e-405d-895c-ab8b19ac6df1 CLINVAR:430689 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b9c39b6f-58af-4f90-b22f-4c101d206abf CLINVAR:430689 biolink:is_sequence_variant_of HGNC:7461 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 32eee228-c159-4c2c-a559-b90f15aa8f35 CLINVAR:636202 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 65a8c6bf-c5c0-4fbe-a371-5af3117c4fc7 CLINVAR:636202 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a756a4d1-5ba5-489c-ad91-44e84fc8b7f2 CLINVAR:870345 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9ce18354-09ee-437f-aa88-c71133b32131 CLINVAR:870345 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 98e48305-c8db-47b9-8a62-55cf15c43886 CLINVAR:2678439 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 256b9358-c150-4751-8d1b-92038ec74a76 CLINVAR:2678439 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 38c2ad2c-ec1a-4ecd-b65e-1d06c295b4e3 CLINVAR:13115 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 012bab6a-d006-40c7-a38b-f8aa41a5bf2d CLINVAR:13115 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f18927cf-d376-40b0-bbbd-4a1b79f9381f CAID:CA2580612188 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen dcdadb4e-d6d2-44bd-83d2-ba8b71c033cd CAID:CA2580612188 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 15a5b8b7-ecfc-4c1e-a946-5e6650cf7662 CLINVAR:98868 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 29c34c46-3fbf-4e96-8515-adf1fca0f4ef CLINVAR:98868 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9746448e-a79b-4d61-b80e-bd161c3eba1b CLINVAR:812758 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e4b8ce83-d339-40e5-8cd3-fadebd63d345 CLINVAR:812758 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0d2f5095-cb5a-47b6-b548-83eaa1682d0c CLINVAR:874235 biolink:genetically_associated_with MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b19e53f4-eea0-44e0-8a42-63877a9c1094 CLINVAR:874235 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c260ec92-edb4-429f-9bc1-b9d319a6d8f2 CLINVAR:298022 biolink:genetically_associated_with MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6df744f0-67fe-4ba8-9ae2-25ae19da8d42 CLINVAR:298022 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a37e222b-1d93-4c99-be58-ea9ddb64ee15 CLINVAR:98843 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen cceefe86-494b-4ea5-a256-b19091deafdf CLINVAR:98843 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 588f84af-1f30-4045-9f02-003deb749071 CLINVAR:235698 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a7a16604-cc44-4691-96f6-fb0f2e770246 CLINVAR:235698 biolink:is_sequence_variant_of HGNC:7414 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c5379e11-7038-42c6-a01b-fe15a572d0f2 CLINVAR:39575 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8b3655d9-42d1-417d-b42c-a35d8ca60aa1 CLINVAR:39575 biolink:is_sequence_variant_of HGNC:7499 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dbbb07c0-e008-41e8-a939-08ee78d86eac CLINVAR:618222 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0b49ba38-ed4e-46d4-a54d-aba11097fc09 CLINVAR:618222 biolink:is_sequence_variant_of HGNC:7500 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4c9d1a52-62df-4e38-b29f-c7eaa575ee85 CLINVAR:9682 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 19535d77-c0f4-4d69-8905-a0e433acb0d4 CLINVAR:9682 biolink:is_sequence_variant_of HGNC:7427 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2d025a3f-0b60-4ec2-b869-59895b875525 CLINVAR:9680 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c5805d82-427e-4b00-a367-cfa4d44cd265 CLINVAR:9680 biolink:is_sequence_variant_of HGNC:7427 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f1509f7b-a6b6-4429-813f-f026ad257fe3 CLINVAR:949591 biolink:genetically_associated_with MONDO:0100083 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen df835321-0be5-4717-9b3c-7e5ce9bc775d CLINVAR:949591 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a8db5494-e5f2-42c3-95d5-7a737bd31f00 CLINVAR:2088789 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9130a995-1617-4ed9-8b8e-f287e75ab6cd CLINVAR:2088789 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 12c37331-dad2-4543-b35f-400e15d89a62 CLINVAR:2089191 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fc897dd9-1f7c-4775-b327-693dc6f9646e CLINVAR:2089191 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a604f758-c72b-4c96-a456-4ced9401d2b0 CLINVAR:1024911 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 29ce41e9-70d2-448a-8827-8022d86f1b34 CLINVAR:1024911 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bda6e35e-b155-4458-84cc-1fb33df75f19 CLINVAR:2078130 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 00447514-c15d-4b56-b378-3df5c298b447 CLINVAR:2078130 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2a4be6cb-950e-455d-a36a-cf5c53280585 CLINVAR:2151600 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7ee4e3ad-ea8a-44dc-9136-b590f6d01f3e CLINVAR:2151600 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 77dd0c25-2b0d-47eb-bda7-6976096c75eb CLINVAR:2089328 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ba5bcbfd-dbd5-4888-8f43-cf68d2d9c3bb CLINVAR:2089328 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 52ea2ee2-dc6a-4d34-a2bd-9f763d5a9bde CLINVAR:1986052 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d3fafe38-864e-471e-846a-46c17f3de6eb CLINVAR:1986052 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen de673b59-ef01-4c21-b020-bfe7796c8716 CLINVAR:988809 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 62a335b1-801b-4550-9937-d5428ccec397 CLINVAR:988809 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c88439ef-2701-40c4-890a-cf9c5eac2dfb CLINVAR:2094507 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9fb75298-80b6-4c28-8f9e-40cd3427bcd9 CLINVAR:2094507 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5c276bc4-964f-4281-9a2d-3063217481a1 CLINVAR:627100 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b46bd540-3fda-4e48-9ac1-3ca9cdfa8a45 CLINVAR:627100 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 84550b4a-df30-4d1e-b3a5-c838248c675b CLINVAR:660565 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9049699a-e273-4a43-aeec-a263b05411e6 CLINVAR:660565 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9c7bf319-d632-4df5-abe9-1e53bb7e358d CLINVAR:1684453 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen dca1a5cd-0cb2-4036-9b30-5cd28dd7f1b6 CLINVAR:1684453 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 383c3cd8-a46d-4638-9f01-08dc251d50f6 CLINVAR:935114 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3abe5ce0-cfed-4031-a560-8b6923b03de0 CLINVAR:935114 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7cfcc9d2-b4db-443d-b7f8-b4a315eebbae CLINVAR:1466432 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 58015fc8-94b4-429d-87de-b43940d15e41 CLINVAR:1466432 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d3383735-0464-4551-bf46-cf048602d869 CLINVAR:971877 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 430c6c61-a418-4162-bded-6775d9d89340 CLINVAR:971877 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 31ffcbda-9198-4abc-8796-9a2e013e8a2f CLINVAR:839213 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 42169edd-49cd-48a8-bf08-a9fccef97ec4 CLINVAR:839213 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7baf303d-eb04-446b-b551-47e792b13ca1 CLINVAR:1382220 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 343f6d25-5bdf-46cc-91b6-b43f28707134 CLINVAR:1382220 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dd20ea2a-b81d-4e47-954b-0fc3f8c835a7 CLINVAR:532669 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c3820778-09a1-4fde-babf-93cd75d137e2 CLINVAR:532669 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 67544072-e4e4-4ccf-bddd-aa464b2419b7 CLINVAR:2126194 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c19bafd8-5536-4b33-b129-0006dc1fe6d1 CLINVAR:2126194 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7636bc9a-221a-4d41-870c-bd7ffb8d2a1d CLINVAR:532670 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4e3abeda-9c30-4da3-82a6-a729745c66de CLINVAR:532670 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e721866a-8703-4363-82e8-2824004ef026 CLINVAR:2076125 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a1911298-4f23-42b3-9eaa-eaab2e0d3892 CLINVAR:2076125 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a1a41075-750f-4c71-b164-6a587facf621 CLINVAR:838046 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9feaaab7-9f3b-4ab9-b1da-09775b46d4d0 CLINVAR:838046 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9c385ab6-0ecd-4158-b2f2-cfa7d7d6a0c2 CLINVAR:1713291 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3d7c1742-08d0-41d5-b03a-aa4a72d9bd17 CLINVAR:1713291 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 80531341-9ec1-4eae-bfcf-fb84a40ba80c CLINVAR:532652 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f5532a01-f4fd-463b-9c66-ee9aad1b1ced CLINVAR:532652 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen efa3a263-ccbc-4e58-94bd-e41da8e67775 CLINVAR:1711954 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen cf71fda8-dd3d-469b-b5b5-5e67c299fd59 CLINVAR:1711954 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 63538fd3-f9db-4f6c-a716-06a3d92c0169 CLINVAR:2183638 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c69217c4-24d1-4aa3-8881-612f45a706ec CLINVAR:2183638 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5e67d0ff-1ec0-4746-a4f8-d2f27422cca6 CLINVAR:939981 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4f6d60c8-1120-454a-82ea-02e5a4d51d87 CLINVAR:939981 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen faa403f6-3e15-4907-aa9a-54cc0fa37613 CLINVAR:1716418 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a0062ab9-2db5-4234-b956-4a677ba10bed CLINVAR:1716418 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d0f76517-d706-498b-92ea-16c050567418 CLINVAR:953427 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 31b3a7ff-83a6-4bc7-b9e4-0ff7c6235d25 CLINVAR:953427 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cdc7e6e2-4809-4135-92ba-11d7ba86fa56 CLINVAR:651472 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fa167bd1-3a59-41fb-b4ce-ef42000130be CLINVAR:651472 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 72c0c268-f702-48c3-890f-1486cd8c213d CLINVAR:1055114 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 071d32f4-2bd7-4200-9530-4a846f1e4260 CLINVAR:1055114 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1ffb283e-38d2-49de-b5af-26d737deda28 CLINVAR:1951248 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c0f38ad2-c69c-4df4-ae02-51ada261e1e2 CLINVAR:1951248 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 65486d2c-cb56-4c3d-98a5-f1a939fd36c9 CLINVAR:2089097 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fe420ed1-57fe-4218-9136-31e8074d2e50 CLINVAR:2089097 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 07affd09-35fc-4365-aa45-46d3ddd5cc4e CLINVAR:436612 biolink:genetically_associated_with MONDO:0100083 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen dc15a01b-6532-40fe-985a-b1eb109cc445 CLINVAR:436612 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 680bc5e5-4c7e-4ce4-a820-6cf890de8e74 CLINVAR:1521966 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ffc89cad-c2be-4a74-ba34-5e884d427883 CLINVAR:1521966 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ff86a068-5b72-4ce0-b0c8-978a35ac04bf CLINVAR:663526 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0f17bfec-faeb-442c-8bb4-e1088e6fec18 CLINVAR:663526 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 51aa9a9c-ba4c-41fa-b1ed-6874e81b4bcf CLINVAR:665375 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 40b00ab4-b5d4-4d7d-a88c-1c430194fa6d CLINVAR:665375 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e9e96ca0-6e22-4d5c-b8c6-a730fd17de4e CLINVAR:1475629 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9aa33ff5-1e86-4296-835d-6435997826ba CLINVAR:1475629 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 19893319-b872-46e0-80ee-ae86432ac98b CLINVAR:30003 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ff9b321b-ff29-4920-9bd3-6ba7f25a9827 CLINVAR:30003 biolink:is_sequence_variant_of HGNC:7479 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 19f96b25-b7ec-4672-b9e2-e14f393df809 CLINVAR:36365 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 177df60c-c927-43e3-8a8a-de71952a6b47 CLINVAR:36365 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1b32bb72-2252-46be-a541-c3a770430ac3 CLINVAR:827573 biolink:causes MONDO:0011132 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen eaa7329d-4e3d-4773-b5f9-2585e0faabf5 CLINVAR:827573 biolink:is_sequence_variant_of HGNC:12765 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2e17a981-0f72-4428-bc83-d5a89a125858 CLINVAR:8757 biolink:causes MONDO:0011132 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f6a720d1-c194-4cac-bb8c-680c8b507d34 CLINVAR:8757 biolink:is_sequence_variant_of HGNC:12765 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 53a94754-222c-4525-9ede-fdbc917cf53a CLINVAR:1517590 biolink:genetically_associated_with MONDO:0011132 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 49c22274-90f6-454c-ba25-d17d8896e60d CLINVAR:1517590 biolink:is_sequence_variant_of HGNC:12765 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a8014445-07f6-4e4b-8870-11a1ac68ad1c CLINVAR:827574 biolink:causes MONDO:0011132 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f48eeadf-12cd-4f8c-9594-3d91a0b398d0 CLINVAR:827574 biolink:is_sequence_variant_of HGNC:12765 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4011d4cc-89f9-41c7-8e03-c23e8dd6e983 CLINVAR:869415 biolink:causes MONDO:0011132 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5a2caba6-9c87-4b14-b287-ebeb19c45117 CLINVAR:869415 biolink:is_sequence_variant_of HGNC:12765 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6dafcae5-d5d2-4b7f-8a8b-0c2ae2553fec CLINVAR:852208 biolink:genetically_associated_with MONDO:0011132 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e4ff1332-2120-4ec9-b2e5-a74217151963 CLINVAR:852208 biolink:is_sequence_variant_of HGNC:12765 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2b0198df-aa71-41e9-a24a-7a2cb06bc2bf CLINVAR:644342 biolink:associated_with_increased_likelihood_of MONDO:0011132 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e32f9ea3-fb1f-4a80-81c0-d32744495acf CLINVAR:644342 biolink:is_sequence_variant_of HGNC:12765 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 61725aa0-c653-4d6f-a894-dd7ff85d4427 CLINVAR:827572 biolink:causes MONDO:0011132 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d158fd00-40e9-43ea-8b25-e1254fb8c187 CLINVAR:827572 biolink:is_sequence_variant_of HGNC:12765 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 11340e5d-d4ce-4a21-9fea-7861b80ed9fd CLINVAR:656631 biolink:associated_with_increased_likelihood_of MONDO:0011132 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 550e604e-9817-483d-9c49-b5309489d3cf CLINVAR:656631 biolink:is_sequence_variant_of HGNC:12765 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 153e825f-2bc0-46a7-872a-99b6dfe576a9 CLINVAR:1610976 biolink:genetically_associated_with MONDO:0011132 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 78237c1e-47ba-40d2-9575-39fa2f1d6106 CLINVAR:1610976 biolink:is_sequence_variant_of HGNC:12765 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 289d78e9-704b-4051-9520-1b590ecf491c CLINVAR:392379 biolink:associated_with_increased_likelihood_of MONDO:0011132 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e93bf746-3681-460e-a86a-59bdf6372a3e CLINVAR:392379 biolink:is_sequence_variant_of HGNC:12765 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1b4e8435-c271-4103-9a7a-ef7d006df84a CLINVAR:422945 biolink:associated_with_increased_likelihood_of MONDO:0011132 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen afc2472d-75d6-4f74-88ef-2dc5bf6721c4 CLINVAR:422945 biolink:is_sequence_variant_of HGNC:12765 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d5a05583-f6bb-47ed-ab63-e7774bb45e63 CLINVAR:858136 biolink:genetically_associated_with MONDO:0011132 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0481375c-2abc-4c7a-b72f-68d6ef22e264 CLINVAR:858136 biolink:is_sequence_variant_of HGNC:12765 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 11cc0327-a68d-49e9-957e-6b992943c8b6 CLINVAR:423100 biolink:associated_with_increased_likelihood_of MONDO:0011132 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2c4474d7-0f71-4c3e-9232-9726cf06bfa9 CLINVAR:423100 biolink:is_sequence_variant_of HGNC:12765 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b0491b1c-20eb-4f35-bc2f-7474e5bf1e41 CLINVAR:536427 biolink:genetically_associated_with MONDO:0011132 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 51881ed6-b2e9-46ed-b81e-8b43cc54ee35 CLINVAR:536427 biolink:is_sequence_variant_of HGNC:12765 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cab3e447-1e52-48d3-9966-749eb4d18a35 CLINVAR:1199408 biolink:associated_with_increased_likelihood_of MONDO:0011132 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 724c9d55-3085-4725-a256-ed9fac194384 CLINVAR:1199408 biolink:is_sequence_variant_of HGNC:12765 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5bde4b85-8d74-483f-963f-5a49e4103eb6 CLINVAR:418218 biolink:causes MONDO:0011132 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b7c834d6-d283-4cff-a599-1baa49d1c7fc CLINVAR:418218 biolink:is_sequence_variant_of HGNC:12765 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4199838e-9e80-4617-a525-f166f5855c53 CLINVAR:2108802 biolink:causes MONDO:0011132 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3f1cb11b-1c0d-41bd-94c9-f535efa2e949 CLINVAR:2108802 biolink:is_sequence_variant_of HGNC:12765 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bd1130cf-7a30-49b8-b2f1-85fcc031d606 CLINVAR:660886 biolink:causes MONDO:0011132 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f624bc29-ba5d-4f88-8222-689ffc356615 CLINVAR:660886 biolink:is_sequence_variant_of HGNC:12765 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 08b0e213-5b32-4f8c-b53f-74b8020235e3 CLINVAR:665887 biolink:associated_with_increased_likelihood_of MONDO:0011132 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3e908bc7-9507-43c2-9673-80a7b92fd5c2 CLINVAR:665887 biolink:is_sequence_variant_of HGNC:12765 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f0d0afa0-0452-4c93-993d-9961a3a04d8b CLINVAR:827578 biolink:associated_with_increased_likelihood_of MONDO:0011132 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8c7c2e74-d89a-4c9b-b1cf-00f398bbee75 CLINVAR:827578 biolink:is_sequence_variant_of HGNC:12765 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9b5308da-72be-4843-b780-86ea5a450c4b CLINVAR:626107 biolink:associated_with_increased_likelihood_of MONDO:0011132 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9927eaec-96c2-4c2c-b2c0-ed179320d563 CLINVAR:626107 biolink:is_sequence_variant_of HGNC:12765 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d656f16d-d638-4360-9063-369112570a6f CLINVAR:1048525 biolink:causes MONDO:0011132 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2617c24e-b5df-4ef8-8cb7-cd1401e756e4 CLINVAR:1048525 biolink:is_sequence_variant_of HGNC:12765 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ab4b71e4-824c-456b-a394-6583ee88109f CAID:CA398323709 biolink:causes MONDO:0011132 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6c75bf3c-02cf-4e74-bfe1-06a6a996b8f8 CAID:CA398323709 biolink:is_sequence_variant_of HGNC:12765 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e210cb40-b999-461d-990e-db640c0f0ab6 CAID:CA2497028945 biolink:associated_with_increased_likelihood_of MONDO:0011132 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 41edeabd-a7b6-4e5f-9d3c-86d9b282ad2f CAID:CA2497028945 biolink:is_sequence_variant_of HGNC:12765 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 354f926b-445d-4fad-bfc5-6db7a0506d4a CLINVAR:2726823 biolink:genetically_associated_with MONDO:0011132 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 778085fa-10a5-44f2-947a-59eb28eb7334 CLINVAR:2726823 biolink:is_sequence_variant_of HGNC:12765 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4657ad15-d907-4b3a-8662-505d6a0dffc5 CAID:CA2573320470 biolink:associated_with_increased_likelihood_of MONDO:0011132 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 26834a5c-f221-4306-b60b-4c93721503ce CAID:CA2573320470 biolink:is_sequence_variant_of HGNC:12765 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ac6f32a1-ec25-44b8-9ebc-ed26911b7502 CAID:CA2740089966 biolink:associated_with_increased_likelihood_of MONDO:0011132 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e479509f-8c3c-4b6a-b573-ebc4aff37e65 CAID:CA2740089966 biolink:is_sequence_variant_of HGNC:12765 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5c96f452-b6c0-44b2-92cd-4ec36077b286 CLINVAR:1456275 biolink:associated_with_increased_likelihood_of MONDO:0011132 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen cb320462-c896-4e2a-9505-a09145db4944 CLINVAR:1456275 biolink:is_sequence_variant_of HGNC:12765 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 730b5f77-837d-453d-9b48-56d637dcecce CLINVAR:412056 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1a08ee91-7960-4612-a610-783c15785788 CLINVAR:412056 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d19244b6-9347-492c-a385-311e9d398a14 CLINVAR:1723516 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 69510fe1-14cb-4c5c-b5c5-173a952909d2 CLINVAR:1723516 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen de9f2cb9-d891-4edc-9e79-470894793c27 CLINVAR:143774 biolink:causes MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3548a4e1-1075-4180-8f15-783ae81a8e0c CLINVAR:143774 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ae3021ab-7f5c-4e72-97bc-cab9a5b01f18 CLINVAR:162370 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen efc6c32d-0f1b-4741-a53f-b8807d4543b9 CLINVAR:162370 biolink:is_sequence_variant_of HGNC:7475 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f740fa4e-4d31-4359-afea-a3f507e760bf CLINVAR:9609 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen dcd1b06b-e493-4b95-a514-621c689cb67d CLINVAR:9609 biolink:is_sequence_variant_of HGNC:7487 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f2f2e79d-2d49-4329-80da-b207d9dd47e6 CLINVAR:2018786 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 288defec-75eb-4c11-aa9f-d0b57633e221 CLINVAR:2018786 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a009ab8a-22da-4810-8816-fbc872d01d06 CAID:CA386965264 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 34939c72-dd5c-43a2-a0f6-e7c28517cc7c CAID:CA386965264 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d61a0e56-eab9-432a-b5c3-665e3e5df129 CLINVAR:36801 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b0835a8e-b160-4ec3-af60-d8b81c94a156 CLINVAR:36801 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 64e72d1f-af15-4aa8-b76b-66711d85f1f0 CLINVAR:562466 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c67bf9ed-ac38-4a62-923b-d1a3ed557ea3 CLINVAR:562466 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2b13142c-2021-431e-b382-4ca6713b5801 CAID:CA386972269 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ba8396d2-89dd-4d53-b82e-c4a4df91df63 CAID:CA386972269 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 935a15fb-760c-4792-a7b6-925b224a7fde CAID:CA386973449 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen eec0167a-41f6-4e09-8f27-be9603c6112b CAID:CA386973449 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fa647cde-50aa-4fb8-bb6f-5278911707b4 CAID:CA386973446 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 39d9bd3b-8a16-4db8-adde-dbd6904b9cc7 CAID:CA386973446 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9e42a127-21ae-40c5-8615-4f823219e55d CAID:CA386972734 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e8c7d2cd-88fb-4a14-b671-1f8349ad2b4e CAID:CA386972734 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9e627f3c-8082-4160-afd3-0bf6fd5dee11 CLINVAR:14932 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5f2ecbd0-e8a1-40e2-8d83-993e086cebe2 CLINVAR:14932 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a090c130-e577-4e56-a54e-bb49a2ceae01 CAID:CA2573051047 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 62a7b993-5f65-4110-ad3c-9ed767231632 CAID:CA2573051047 biolink:is_sequence_variant_of HGNC:25719 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 25de2e5b-43a6-4504-b44b-dea815f91ae6 CAID:CA367402230 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 41caa3f2-e83c-4e73-b6f9-94c6076e590b CAID:CA367402230 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 291f23b3-d6ad-4ce7-820c-77a92a080ea8 CLINVAR:1438546 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 17ffbd13-1955-4920-9e25-398e5e43e452 CLINVAR:1438546 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d5b77c60-34f0-47f4-b47c-306a1024d774 CLINVAR:1338044 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c7b464e7-ff11-4a8b-93cc-aa222badcce5 CLINVAR:1338044 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4e4a0d5a-56cb-4653-85d7-3282ea4f0154 CLINVAR:409824 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5f581c36-de47-4acd-8442-89be07a9fbc0 CLINVAR:409824 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cc736b0d-2279-49da-b7ef-1b123f11e883 CLINVAR:934175 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 74c731c5-f331-4057-bf1f-dffc3fa883dc CLINVAR:934175 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cd1eace8-de81-48fe-b5af-d13cef994250 CLINVAR:1323540 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8dfbdc02-4ec9-4374-a129-f5f4f36cd1d9 CLINVAR:1323540 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 260130ff-6412-40a3-952a-43f3b5510fc2 CLINVAR:1338557 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 69131034-aad8-4b93-b997-ba6ef0dae0a8 CLINVAR:1338557 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 254e0b3a-169c-4854-b436-078708ce86bf CLINVAR:640778 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 729d2eb7-2bf3-43be-ae24-cec3366f31ed CLINVAR:640778 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 984a6533-7227-4d24-9f14-ae641888359b CLINVAR:409819 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 019e1396-1824-4e09-af1d-e7a5edbb32e5 CLINVAR:409819 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 40e7584e-9796-4e1f-baaf-345b9b141d56 CLINVAR:1052786 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen cde033d6-116b-463a-acb7-180daad55cb5 CLINVAR:1052786 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7388518d-aeb2-4d2e-83dc-88dda7b0bd3c CLINVAR:858848 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9b64ef29-9587-40f5-bd40-784fb7f9c0f0 CLINVAR:858848 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e2b55f89-6262-473d-bf90-21efd0d425d6 CLINVAR:2002610 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3e8153d2-e3f8-4fbb-ae29-68392eb9df7c CLINVAR:2002610 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 71cbf487-4398-4a3d-80cd-a305a777e62a CLINVAR:2126320 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f2b9117b-a6e3-4d76-9965-1aa2aacbc17b CLINVAR:2126320 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7a8054b6-3b38-490a-ae52-bba630dc5861 CLINVAR:1718102 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 36cae325-bc59-4b20-bd2e-6930a0e8d492 CLINVAR:1718102 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 87e52d9c-9a25-4e4b-a56d-e8e31fc37997 CLINVAR:960066 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7242bcc6-59d0-4185-bbe2-f2f0909977b6 CLINVAR:960066 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 97b8a9db-fc0f-4ce4-8ef2-52f7578ab5a1 CLINVAR:2062797 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f606aa8b-1286-4568-a92d-b8155d122d1a CLINVAR:2062797 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 201e8c24-866a-43c5-b098-edf4e54e811a CLINVAR:1003215 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ed1dc9c2-7fb3-4bf6-968a-efc3b2bf9269 CLINVAR:1003215 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 87d5fa84-2524-48be-899d-6e49ab7b4164 CLINVAR:2116304 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7bd42b56-9880-4097-af72-d03f0acae557 CLINVAR:2116304 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3bcdab84-9c76-43ef-aa40-4058add3c2cd CLINVAR:1972477 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 90272696-cad8-4b15-8237-b0f32e64da3c CLINVAR:1972477 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c3a0d2a6-87b9-449f-a01d-dd19262a0c98 CLINVAR:1471430 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9db4caef-5ebf-4942-8101-e6212d8efe26 CLINVAR:1471430 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 253cedc6-c08f-4761-ac2e-c33ad1d8606d CLINVAR:1067421 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 708ef860-3b20-4104-a5f0-482cc33751c8 CLINVAR:1067421 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d6ad4d86-65de-46e5-b5d0-d6df949f7edb CLINVAR:409806 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6ad5f1de-e5af-486f-b5a6-8bbab9fe6c01 CLINVAR:409806 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d1b720de-1406-44e3-9ddd-82bf767cb656 CLINVAR:1999266 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d8dbaa5d-09c1-4af1-af09-28fdcca1bd9a CLINVAR:1999266 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7c8fb21c-2e01-4b3f-b5a8-93cb51887c5e CLINVAR:1040855 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a8410d92-7746-4be5-8f64-6e7f6046930a CLINVAR:1040855 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f1a907dd-5994-4af4-b940-ba7c027da095 CLINVAR:649413 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a85b0db7-66c0-4283-9c65-c3eb07b49531 CLINVAR:649413 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0a2808c4-a3b3-4c7c-97ab-62374ea120c5 CLINVAR:2011243 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d6e52966-2cb8-4b66-bad3-a1bdf1e24cfd CLINVAR:2011243 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d414752c-8be2-49c2-9280-05cdc19d4aba CLINVAR:1937674 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ca3b8269-4e83-404c-8328-f56f4aad4ac2 CLINVAR:1937674 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e8c1c754-3a75-4fc3-b8bc-432ea030e8f1 CLINVAR:2008544 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen cba4cdb6-4258-47ec-99c1-3fb52973a370 CLINVAR:2008544 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c916fbcc-e4db-4e2b-a1bd-2c22cbe7c0b4 CLINVAR:579883 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4f278bac-ed23-4921-838b-0aef23409b69 CLINVAR:579883 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f9fc6f7f-3116-4fe2-851f-3fda19a528ad CLINVAR:2029145 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 69f0c7e2-78ad-4b14-be3a-e5cab6784822 CLINVAR:2029145 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f72712ac-adda-4c31-8c01-cb83dd2c8895 CLINVAR:2029256 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d9cc0719-bc63-4b0c-a12a-ffd6cf260d07 CLINVAR:2029256 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fc1156c0-5419-49a8-aa3b-beceae099cd5 CAID:CA410202496 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3d27209c-fce6-43d6-af13-3c5b0a22d0db CAID:CA410202496 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ddea620d-5def-466b-bd8e-2fa2e1c04e50 CLINVAR:854130 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4c7874b5-f994-4772-949f-e6e565a189d8 CLINVAR:854130 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6b532fb2-469a-400c-9984-e6ad79ed82ca CLINVAR:1381966 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5401089f-22ae-44b8-8198-0da692d48572 CLINVAR:1381966 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d28a8ce1-f07b-47c1-837d-e354cca65442 CLINVAR:532653 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3dec34b6-dd6d-4afe-95ec-4e4723b66be1 CLINVAR:532653 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 605c2e6f-6b8d-472e-8ac6-4f2f68798fb1 CLINVAR:1130279 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8f53cefc-d28f-4c25-88e8-88fe90759964 CLINVAR:1130279 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c94cdc4d-dc96-41b1-8fff-d19718cb235f CLINVAR:464007 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 723bb0c9-a178-41fd-aa9c-d836171c020d CLINVAR:464007 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fe530be9-1b64-4337-80b6-ed6ae85318a3 CLINVAR:581130 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen cfa112d5-2f36-4af9-a2e3-917869c00649 CLINVAR:581130 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b5f6ec8b-19d1-455b-8dfa-0b7f088d5619 CLINVAR:661459 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 833dc088-d5a6-404f-9fe2-3ae620a91ac9 CLINVAR:661459 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 259accee-eff0-4be8-a413-adea659c9ad8 CLINVAR:262915 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 717d99cb-24f2-441b-b6aa-50c23ff5d979 CLINVAR:262915 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 685c8786-009f-486a-be1e-c8bf4a66e41e CLINVAR:424599 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c62d3b12-6fa6-4af8-b909-189b35b1a63e CLINVAR:424599 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 87457b11-e43a-4ed4-87a8-3ab9fa1d8437 CLINVAR:987830 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 329207b1-fed6-41ee-ae1a-97b3b4c2ca09 CLINVAR:987830 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a2d35c6a-7571-4aee-9e12-b02f57371a01 CAID:CA414914390 biolink:associated_with_increased_likelihood_of MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen dcadf260-bcde-49a4-8047-6336ffc61a34 CAID:CA414914390 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6d50a2f4-b2ee-45f0-8219-0c4435afec70 CLINVAR:10606 biolink:associated_with_increased_likelihood_of MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 85dbd253-a591-47a1-9549-e2a8864b59d8 CLINVAR:10606 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 68c0c893-6a22-486d-86a0-32e5d58b1774 CLINVAR:376647 biolink:genetically_associated_with MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 21027e71-d50f-4e7f-9169-337bfbfb8c2c CLINVAR:376647 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 756bdef2-8e9f-48b9-9b54-fc1ad63be8f1 CLINVAR:9558 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e0d5dd3f-f797-4119-ad4f-39dad8ef12d5 CLINVAR:9558 biolink:is_sequence_variant_of HGNC:7501 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8d1b2372-2b13-4b2f-ab90-5052ca0156b1 CLINVAR:30002 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f89f2fef-9f2b-49e6-958f-18842db2e926 CLINVAR:30002 biolink:is_sequence_variant_of HGNC:7477 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 64cecbf2-f507-4c2c-afb8-954a846d0336 CLINVAR:9598 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen afc24f9e-5ba6-4691-853f-6fe67ba53744 CLINVAR:9598 biolink:is_sequence_variant_of HGNC:7490 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c08243cf-ab33-4434-b9b0-0f39036c26b0 CLINVAR:870573 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 82aa70ad-292a-40a6-8f83-5e483b80ed86 CLINVAR:870573 biolink:is_sequence_variant_of HGNC:7490 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 86ff25fd-a3d3-43c7-b951-ec00d45b0206 CLINVAR:9575 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e37ccc40-84e5-43a0-9dff-669cbbd4131c CLINVAR:9575 biolink:is_sequence_variant_of HGNC:7481 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d5482e5e-f779-48ea-8d99-5947abdf4154 CLINVAR:690090 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8b40c535-ed9d-4a4d-879b-f18a3508113e CLINVAR:690090 biolink:is_sequence_variant_of HGNC:7486 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 396cdd5d-d524-4a3a-a4fa-ee6b007312ae CLINVAR:9611 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 12be1909-debe-41ce-9663-233d396f3058 CLINVAR:9611 biolink:is_sequence_variant_of HGNC:7486 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 98e17129-a91e-4455-b511-da1478bdc89f CLINVAR:289 biolink:causes MONDO:0015629 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen feeb8d22-9a34-45cc-a8d2-2d3c296cec31 CLINVAR:289 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen efdb6b8b-4e77-47e6-b923-e70da703c250 CLINVAR:309 biolink:causes MONDO:0015628 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7d225782-3d30-444d-a1af-19824867dd49 CLINVAR:309 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 557aff56-043a-4433-8a5d-849fcb94824b CLINVAR:31009 biolink:causes MONDO:0015628 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1d931083-7003-497a-b79b-f4ab3766dd05 CLINVAR:31009 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 46541298-4054-4894-aa3b-81e0d5a8d0b9 CLINVAR:100503 biolink:causes MONDO:0015628 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ef5aaab1-71d4-45a8-968a-8f6c63382e35 CLINVAR:100503 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2d4a6318-e020-4b8e-b766-0022d02d83d2 CLINVAR:302 biolink:causes MONDO:0015629 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a28b76c4-268b-418a-96da-a5c85a20f543 CLINVAR:302 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8543e450-126a-4668-97a9-ad9ac5b0a4c9 CLINVAR:295 biolink:causes MONDO:0015631 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4a5f8c8a-05ef-46e4-887e-6e17961f2681 CLINVAR:295 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5a9c5e7b-2100-4807-9595-c0dba9bc351f CLINVAR:296 biolink:causes MONDO:0015631 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 44d786aa-8aa0-4f57-9c97-303bc196f20e CLINVAR:296 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fdfb536a-c435-4d7a-bc03-da6a9d4eaf4f CLINVAR:100220 biolink:genetically_associated_with MONDO:0015631 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a03a4b1d-f346-49fa-b33e-f444d9f2222b CLINVAR:100220 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 47cc05b9-520f-4def-a8bd-b65cfa3a8295 CLINVAR:209173 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5d85b5c5-0f31-4932-8e96-c46618145fce CLINVAR:209173 biolink:is_sequence_variant_of HGNC:7462 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 521be503-1697-42c7-9e46-56a35900de44 CLINVAR:1703401 biolink:genetically_associated_with MONDO:0019565 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5e2d811b-dca8-4945-94e4-316b5bc0f29d CLINVAR:1703401 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 21c263dd-ebaa-43b0-8435-94e420ff80b3 CLINVAR:288 biolink:causes MONDO:0015629 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b6fb4ca0-4956-4c2d-9ba8-998d67eadd2c CLINVAR:288 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f481efda-48d4-4f54-a097-8bddc285ab6a CLINVAR:9690 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 89da6955-75df-4868-b1fe-1549d447569f CLINVAR:9690 biolink:is_sequence_variant_of HGNC:7462 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0422725d-83f1-407c-a77e-6348e3163185 CLINVAR:290 biolink:causes MONDO:0015629 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen dec0f039-37d0-4f90-b697-2ce0f43d7f7b CLINVAR:290 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c8201f98-4089-412c-83e3-c5e0bae56506 CLINVAR:374080 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 13ca992f-f786-4a62-ad06-10949c6d58f6 CLINVAR:374080 biolink:is_sequence_variant_of HGNC:7462 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 23d4542c-0f46-4089-a284-b5b6a098c8ae CLINVAR:285 biolink:causes MONDO:0015628 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a79f8a5b-a164-46e2-aa4b-67ba43154c43 CLINVAR:285 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 325c8336-128d-457a-b3a4-b2991cfc5fde CLINVAR:100306 biolink:associated_with_increased_likelihood_of MONDO:0015629 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 85fb8080-30d1-4416-b8af-6f35e86b99df CLINVAR:100306 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f19c206e-4c08-46ee-b537-e60a45646f64 CLINVAR:100311 biolink:associated_with_increased_likelihood_of MONDO:0015630 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 057dc1ce-f6a1-4e58-8c0b-0eec580da3c0 CLINVAR:100311 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5f7c384b-caf8-4425-90e0-165653f732bd CLINVAR:1003438 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8feed95e-434f-4b99-a07f-ced85dbbea43 CLINVAR:1003438 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 15b16d2d-8a77-4efb-88a8-928e1d3ecbf7 CLINVAR:1004688 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b9875e7b-0c68-4346-8697-f165d30526b9 CLINVAR:1004688 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 99945259-60cf-4f11-abd5-69f4415e8df4 CLINVAR:1046092 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6eee6805-cfe2-43ef-8e8f-90546b969732 CLINVAR:1046092 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ad66bafc-d715-477f-b030-658353634de2 CLINVAR:1036141 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ba5389c3-0698-4891-b8a4-7f34ea5ceb53 CLINVAR:1036141 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7c44422f-15c1-4c39-8058-0e561351b3d5 CLINVAR:837191 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f230bbd7-a71d-4d34-a6ae-183bdcec4c49 CLINVAR:837191 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7656c9c9-628d-498a-800a-554170399a08 CLINVAR:409805 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fee31b24-b0b1-477b-9565-203d8478f298 CLINVAR:409805 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9edfd58e-d259-4080-adf7-5433132371e8 CLINVAR:1338109 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1c07e65b-e437-465f-8c78-24d78c0d126e CLINVAR:1338109 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 248e27cc-5fcc-4090-92e1-4178dbe080b1 CLINVAR:934637 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 864aefbf-e77a-4e9a-8a55-b4198341cb14 CLINVAR:934637 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 405b887f-fd66-4e3c-b946-ba25b0b14cb1 CLINVAR:1141521 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 81882e71-3f52-4be0-8e99-1b9f521dff93 CLINVAR:1141521 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 91c4a035-f14d-4e3c-a749-14e79473b1fa CLINVAR:1082500 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 963f5de5-9f10-488a-b9b0-029e5b1b54ae CLINVAR:1082500 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 23b63356-b4c1-4a5c-ab86-130ba985c83d CLINVAR:339848 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 07b83238-30ee-4f40-8d62-c04374edd6f1 CLINVAR:339848 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c1c2aa78-3076-44b9-b28c-83de37213fff CLINVAR:943347 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1f5b7bbd-02b7-41a0-bfed-ca708501b24e CLINVAR:943347 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 66048afe-419b-412a-a609-534355b5e311 CLINVAR:2067048 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ac307aef-4c57-4b7f-8238-d241b2226b94 CLINVAR:2067048 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9e445c4e-17ac-4c1f-958c-9c5c6c73caba CLINVAR:938322 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 56aba836-ec7a-40d3-8c56-a3bcf0081efd CLINVAR:938322 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f89c0331-0435-498a-bfe5-b4b03ded4d5a CAID:CA410147693 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ddba0d31-cc2b-43b9-acd6-e2751bee743a CAID:CA410147693 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 736faeba-ff37-4fe5-a250-2ff34076e553 CLINVAR:1035236 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5f547f6f-e947-491d-b46e-ce41ed04f5ef CLINVAR:1035236 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b9fd5e18-f4b1-4244-b7e6-280544222426 CLINVAR:1035156 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3c323b62-3d5e-4d8d-8df3-58c4393460f4 CLINVAR:1035156 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 385a4c62-33fd-4381-b5ec-424450f4aa48 CLINVAR:1023243 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen cfa50630-4ab7-4d4c-80e6-d533903d43fd CLINVAR:1023243 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7f50074f-ba72-4386-9147-8b1d3a89643e CLINVAR:1014442 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f3ca67eb-b565-4010-a99a-1ff2812e21ce CLINVAR:1014442 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 46a40d3b-77a7-4aac-8e07-e9875e797058 CLINVAR:1055398 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9f02c5e4-a6e4-49db-acd3-1040413b5b99 CLINVAR:1055398 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 76459188-b57c-41a6-b6d8-16cd2f034d37 CLINVAR:1009232 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1303aedd-bcfc-4b35-994d-efb2df7859f5 CLINVAR:1009232 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1db66775-2cf9-4d91-8cb1-697129a79ff0 CLINVAR:579777 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen dcdaca2b-1f19-426b-a268-f2c16bab12db CLINVAR:579777 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b102db0c-4029-4aa9-a560-2e7f24ef53b7 CLINVAR:517187 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d34dc583-2a0f-444a-aaa7-b6ce6510fcde CLINVAR:517187 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bde419bb-5c5a-4ae5-84f7-d89fd50b99f3 CLINVAR:568926 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ffeef286-691c-48da-92c6-a728f4a70950 CLINVAR:568926 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2b6255d5-6a43-40ed-a638-2c818fc0b1f4 CLINVAR:642864 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 82194278-41fb-4e0b-b014-efe3593ea5f9 CLINVAR:642864 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 467ce3f8-eff9-4192-8f60-fa85e4d52c33 CLINVAR:1337164 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 669cb55e-1ecb-42e3-8cc6-cd3a4560a2d7 CLINVAR:1337164 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 888bb473-8444-41b3-8499-ad4233364dc6 CAID:CA410147963 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fdbc76c1-fadf-4265-9800-46d30bf34dbe CAID:CA410147963 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f4235f0f-473b-4a85-a630-b1bcecddbafc CLINVAR:566052 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8331773c-9552-4d00-882a-2bf46de70c25 CLINVAR:566052 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 935877f8-863d-49cd-8cff-0543fa5ce8bc CLINVAR:532658 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 84d76444-ea2c-455d-94cc-b87c611019ee CLINVAR:532658 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 85aa40cf-e2aa-46c2-b1d3-f6538d52fe03 CLINVAR:409814 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7ee48f3f-d7cf-4ac7-8e35-9fb66361b512 CLINVAR:409814 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0b0c9a7b-b9e7-4156-b8c1-57e492c86d3e CLINVAR:1450492 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4cdfc5a1-a9d2-44e5-8ad1-e34ba1155a7e CLINVAR:1450492 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7d17e219-f818-4c9a-a908-0d760b6926e7 CLINVAR:561232 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen aaf2bc57-70de-4304-8e5f-d9e744920d3c CLINVAR:561232 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen de92f856-cc3a-4462-b3af-ae4fd9ccf1d7 CLINVAR:561247 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 290fbadb-3c5f-4ff7-9058-182a98290bdf CLINVAR:561247 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0b635f9b-5ab8-4ba1-a7ac-32416c53ba4e CLINVAR:619750 biolink:genetically_associated_with MONDO:0019565 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ff50f209-03a0-49ec-8e49-a78fca1b1921 CLINVAR:619750 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b4c0c370-9778-470d-9e7d-0e13b3ea93ed CLINVAR:291 biolink:causes MONDO:0015629 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 11d551c4-1ece-4fbe-b6e6-fe02f56ca29c CLINVAR:291 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4386499b-8dd9-4b79-8df9-3c511ac68bd1 CAID:CA383503778 biolink:associated_with_increased_likelihood_of MONDO:0015630 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ce294f38-5b42-496c-8a91-97b4a58afd98 CAID:CA383503778 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8d50451a-d9e1-4668-bf7f-b7e32c33d8d5 CLINVAR:619752 biolink:genetically_associated_with MONDO:0015628 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b223b8cb-fb71-449a-b0b1-13eaa3d80d9e CLINVAR:619752 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c2abf166-05cd-43be-8a1d-cab189ae0bfd CLINVAR:100343 biolink:associated_with_increased_likelihood_of MONDO:0015630 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5f7817e7-55c6-41bc-89f3-677b2cc17d4e CLINVAR:100343 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eb0c8461-34c9-4188-9465-9e3161556691 CLINVAR:100337 biolink:causes MONDO:0015630 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b35bb1ba-7f5e-47ed-ad52-61a0759429e4 CLINVAR:100337 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3a003397-a73d-4866-b041-d7cd71e3e659 CLINVAR:293 biolink:genetically_associated_with MONDO:0019565 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8da04652-2e5d-4be0-852b-920d5ddee905 CLINVAR:293 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a8bff89b-583f-43cd-8c8e-7430285987db CLINVAR:100356 biolink:genetically_associated_with MONDO:0019565 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3b4db6f7-12bc-4697-98f5-328c74331905 CLINVAR:100356 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5044b0be-c007-46af-af97-bad7a980b7de CLINVAR:284 biolink:causes MONDO:0015628 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a534615a-a055-4bf4-80c1-94af9f5364ad CLINVAR:284 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f86bee39-a568-433b-8f1c-9a626fe67e91 CAID:CA383496428 biolink:genetically_associated_with MONDO:0015630 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e41715f7-47ec-44f6-afc7-8d462394a3a2 CAID:CA383496428 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2d30387d-6c7f-4d37-8612-b5e70343d085 CAID:CA383495656 biolink:genetically_associated_with MONDO:0015630 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen df2ec8a4-0d5b-4708-9948-041674eb51f0 CAID:CA383495656 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 331ee72a-7fb3-4475-ba61-1e5addd6b0a5 CLINVAR:1723280 biolink:genetically_associated_with MONDO:0019565 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 50f78ebe-0d09-401d-a4b8-34a6bd071863 CLINVAR:1723280 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4cdc45fc-f086-443b-a814-b72adbe56487 CLINVAR:627354 biolink:genetically_associated_with MONDO:0019565 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 058765b4-5d59-41db-aea7-5bedb7535905 CLINVAR:627354 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9b08cb0b-8a2a-44aa-b9f4-b5e9cc082882 CLINVAR:100450 biolink:genetically_associated_with MONDO:0019565 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6df13c85-87d2-43d7-abce-b1bf0df93885 CLINVAR:100450 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 782967c8-eba6-4dc4-995d-3e1fe94faa77 CLINVAR:100309 biolink:causes MONDO:0015629 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c96f51cd-0bfb-413b-b517-3299acc3d2a6 CLINVAR:100309 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a73e2133-374d-4461-8d4f-0a7f6e705898 CLINVAR:306 biolink:causes MONDO:0015628 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen db12d9be-6f64-48c6-bc29-1ed1f811972b CLINVAR:306 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 845c4a72-11bc-479f-ba62-4dc6345fbe0a CLINVAR:324987 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c0502e7a-af82-4808-815b-a6466c44aea0 CLINVAR:324987 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a14b6fea-1647-4ead-9197-e1c10e7b18d7 CLINVAR:203572 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ddee1826-b9e6-42e4-bb81-993825f55ba7 CLINVAR:203572 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6c6847c5-01c4-4efd-9555-729cdcb2de85 CLINVAR:889087 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 13faff76-262a-4899-bd58-e21fc2d6cd7c CLINVAR:889087 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 40ece3ee-d639-4736-a00d-c6964941c3e1 CLINVAR:1684006 biolink:associated_with_increased_likelihood_of MONDO:0015628 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 213d6db9-2d34-481e-8281-c54d83a7a0c4 CLINVAR:1684006 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2dc77402-02e6-40d9-822d-c4db62320c33 CLINVAR:294 biolink:causes MONDO:0015631 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5122cb6b-43dd-4eed-9330-62672d52161b CLINVAR:294 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 83946942-fefe-4c93-9fb2-9bc101de77ff CLINVAR:100421 biolink:associated_with_increased_likelihood_of MONDO:0015630 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen cb08978c-6425-47f4-8f50-d8ef55835bcd CLINVAR:100421 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ce8c080d-53e1-4b81-8237-39a8f3466d18 CLINVAR:100326 biolink:causes MONDO:0015630 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen cb2b736b-cd37-4242-b8bd-b4a7135371b2 CLINVAR:100326 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3dda69e6-daf4-4f96-b357-0b5cfaec212c CLINVAR:300 biolink:causes MONDO:0015630 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5b72cd26-53c7-42ac-85fb-95690e67830e CLINVAR:300 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 25e1bcb4-c37d-49fe-8559-db5931c8f413 CLINVAR:318 biolink:causes MONDO:0015628 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen fc22ecbc-50d9-4c0c-a075-459acce15ad2 CLINVAR:318 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5a36ec60-0517-4378-94ef-8ef4d9e18421 CLINVAR:100313 biolink:causes MONDO:0015630 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 83fae979-ed23-46d4-85ca-73ba45d87b4a CLINVAR:100313 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e6da9b13-ffb8-4628-b172-e4755656b035 CLINVAR:100308 biolink:causes MONDO:0015629 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4d426cef-d89b-42d2-8f39-cc65dc6e606f CLINVAR:100308 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9599585c-49fe-42c0-a68e-f03ee6d797af CLINVAR:692533 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 589fb98a-bf0e-46cc-9ed0-d7b207aea721 CLINVAR:692533 biolink:is_sequence_variant_of HGNC:7456 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b66a0a83-8b4a-44f1-9ceb-066fe9cbb5b4 CLINVAR:9720 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d16daa49-6f88-4679-b066-aeb51352f68f CLINVAR:9720 biolink:is_sequence_variant_of HGNC:7456 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 47eb0261-706e-41f1-9ea2-326e8745650d CLINVAR:9700 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen bda91b9c-a42e-41bf-bcb7-f8f8acaa7101 CLINVAR:9700 biolink:is_sequence_variant_of HGNC:7461 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d2b8d2db-90e7-4e35-a68a-481f27308b8b CAID:CA410146486 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8a5f9ab6-8e75-4622-b740-15f0713b29e5 CAID:CA410146486 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 923f710a-84e2-47c8-b602-b908b8ca9766 CLINVAR:463980 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 86c7db41-4c63-47b9-8103-d552284f9034 CLINVAR:463980 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0a0a8720-8647-409d-9ab3-586e50ce07e3 CLINVAR:409823 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 30c393f0-907c-4f94-a498-74e5ac859f5f CLINVAR:409823 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fa8f0485-3094-49de-ad26-e7bc274dff67 CLINVAR:409816 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4ebb7538-5a97-444a-80ee-b4fc0212320b CLINVAR:409816 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 68666406-da22-4cb4-9188-ece62984a915 CLINVAR:239053 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fc955608-3cf4-4fc8-87dd-7717d716e7b2 CLINVAR:239053 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 73608acf-17ed-4989-91d0-d2dce1a78f18 CLINVAR:239041 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 01f10e58-9f7a-41b1-a3e7-181e6ebf3e27 CLINVAR:239041 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 871fb9de-cd1d-4733-909a-21d6e04f2775 CLINVAR:1439732 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c1692067-56d7-4241-a3f2-d127740fb083 CLINVAR:1439732 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c823e662-9a9b-430e-8a0d-2a5cff6c4c72 CLINVAR:959039 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 639abd2a-8271-43f8-996c-6b86410bb1c7 CLINVAR:959039 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 47bee847-bd2d-4da0-a089-81c75ceb4c77 CLINVAR:1022744 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f73b893f-1cd0-42b1-9f8a-2480434a4376 CLINVAR:1022744 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dfd3ce65-3c1c-4a3c-a224-1b1ae55121b4 CLINVAR:1466670 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 16e7d2c4-0dec-4c67-abe1-bdad695c1768 CLINVAR:1466670 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b8d02135-9d20-4669-b4b1-c1c886299aa7 CLINVAR:1051210 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6e65b168-d1b5-482c-b188-3f8bcd31dee2 CLINVAR:1051210 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3ff4a815-2c77-437a-b036-f298e6fd3e9e CLINVAR:2166136 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7e41cc26-accf-49ea-96dd-f8609ca0f7b1 CLINVAR:2166136 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 00f2ca99-0430-452a-a955-be94266e6fbf CLINVAR:1338528 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 73e61de6-5d82-43ba-aecf-7bc6c28c985d CLINVAR:1338528 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c76ca9d0-a3d1-487e-b8cf-030a4a50ae80 CLINVAR:3336850 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3410625e-67c4-45e9-804e-aadc5057dac5 CLINVAR:3336850 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5c71a65f-222b-48a6-9f72-a296c454bf93 CLINVAR:9701 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 033c89a2-6eda-49b8-8c8a-9a7bde6bf280 CLINVAR:9701 biolink:is_sequence_variant_of HGNC:7461 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f90a51cc-ef95-4939-bf94-ecdf1ae8430d CAID:CA2825000789 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c87d632a-4731-4d45-9ab4-ce93a36be1ff CAID:CA2825000789 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bea3807f-67c5-44c3-9bcc-a3b8d89c5d86 CLINVAR:18016 biolink:causes MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f8e6e884-a7cc-4461-b7f4-214027f2a5c0 CLINVAR:18016 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f0bdb25d-ebf8-43bf-b1be-9bfef996a69e CLINVAR:18003 biolink:associated_with_increased_likelihood_of MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 768649db-46b0-4b08-9b96-ef27ab0e9bd8 CLINVAR:18003 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 34aaf121-5e53-4afa-bf4f-d252e27d2ec7 CLINVAR:18010 biolink:causes MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8456e6bf-277a-4b2c-88d3-67d0206ad6e7 CLINVAR:18010 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 207dbe58-a8dc-40a0-8333-68f38f3f15cd CLINVAR:633211 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e12e5db0-2097-4997-a4e2-318a1b40dc87 CLINVAR:633211 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e835783b-565a-48b8-9fd5-c7f54ef317ea CLINVAR:42402 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6c4abb5c-0989-460b-bbec-decf7d636e0d CLINVAR:42402 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2429ea0d-4da2-4b31-8b54-bfef56a6a600 CLINVAR:200084 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5560f9f0-8c7d-4104-b5bf-a5d18d51135a CLINVAR:200084 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5e33b584-9b59-4fd8-b96d-85ec8720e836 CLINVAR:547340 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 30beb0ea-6fe3-4cdd-8801-252680e6eeb0 CLINVAR:547340 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3e55bf4d-660d-460f-8272-353a0a7e4490 CLINVAR:429425 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3a219600-1f87-4514-8fb4-05c10117c0a6 CLINVAR:429425 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8933d77c-17ab-4292-81b8-bdf404ff55c8 CLINVAR:492830 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d3a3b720-2f17-4f2e-8989-cda79a9d0024 CLINVAR:492830 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fc1d563c-b3ca-4b20-8035-4dc42d8d298e CLINVAR:384344 biolink:genetically_associated_with MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0b15be38-fdd5-42c7-8a99-5249099cd191 CLINVAR:384344 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 41b8e6f7-561b-446c-9cf6-a6209c1dab00 CLINVAR:632813 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c0f110c5-ffe2-4339-bb69-ef98c6c5bba6 CLINVAR:632813 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9eb5c848-0bf5-4ec6-a9be-83da87d53134 CLINVAR:495644 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7ee79cdf-c24d-4b29-ba93-0a2fd46013fc CLINVAR:495644 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 34870a6c-9bd9-4272-8b40-740425ae51ac CLINVAR:222610 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 17b09570-5280-46ca-94cb-a54394cbb3e2 CLINVAR:222610 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 01f84db6-f62e-4f56-a45f-22b9feba4808 CLINVAR:36118 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 117a7ab8-a0e6-437b-8ea2-e26f32421d9c CLINVAR:36118 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1a79f312-90d9-49e1-a290-ad3e230f962c CLINVAR:571222 biolink:genetically_associated_with MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4d52d444-4222-46d5-a3a6-570ea1361e86 CLINVAR:571222 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bdbc0ba5-364e-4f5e-8a96-b813d1ad6af9 CLINVAR:423498 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 71508c4e-569f-48a4-bdea-3b1b69b0c7ca CLINVAR:423498 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 09e7c2fe-2ef7-4d82-9780-cf04817eba5c CLINVAR:42436 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 295f3991-6589-4c9c-8936-99b57fb18d9e CLINVAR:42436 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1a418847-c3f1-4c3e-9068-6b71fceeca1e CLINVAR:381609 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f3bbee07-fe51-4a9b-be28-5a9cc758a34e CLINVAR:381609 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cfa63123-9628-4e99-bda8-6e565e087087 CLINVAR:16439 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 445e6925-3665-421e-bf30-625ef7e9638a CLINVAR:16439 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 27c45f4b-d6c1-4326-b5fc-573d9dcd9dd4 CLINVAR:42443 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ccc6156d-62a7-49b4-b64f-bd2f23d16246 CLINVAR:42443 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8f625e0e-5aa7-46bd-9759-998de1323fb3 CLINVAR:547349 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d813ef7e-ffe6-49ec-a4cb-7cdac68f4d43 CLINVAR:547349 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4472050f-8035-4c4a-a0f9-1841380b0e69 CLINVAR:263414 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 443b7df4-17c7-4794-ad19-a54a7e3fb076 CLINVAR:263414 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a00eb8d8-b047-428a-a3eb-6d93d6815196 CLINVAR:547309 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2f7ce636-50dc-4c41-a397-d467be07d15c CLINVAR:547309 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 284672e6-e3f4-4b9e-90df-8dacf56e57d2 CLINVAR:519760 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 494edfe3-d30d-4dc5-9709-88f8148f2704 CLINVAR:519760 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2e142341-df7f-496e-b80d-c466f1ea7194 CLINVAR:520496 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c940b705-9862-419b-93a9-69d83b2e7d02 CLINVAR:520496 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bfb88084-9ad7-47b6-a371-4426c94a0770 CLINVAR:618119 biolink:genetically_associated_with MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d085f617-49e0-4b3e-8662-346951431421 CLINVAR:618119 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a49a4e2b-ef0f-40fc-9da3-c5e4285e4c4e CLINVAR:547338 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5d4e9786-bfb7-4095-8c14-dfb72b795ed0 CLINVAR:547338 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen be383d0a-1790-4f32-b5d0-8f2a26be8c51 CLINVAR:1098776 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 96a0e54f-c4fd-404b-b714-de7bca4963d9 CLINVAR:1098776 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 514f3705-1f78-4915-975b-0c65378570a7 CLINVAR:495662 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4603b83b-7acd-4c3c-8629-d30a2501a89a CLINVAR:495662 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d1f04b95-e40e-4d75-9e5d-c327ea87dfeb CLINVAR:1791142 biolink:genetically_associated_with MONDO:0012589 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8ca4b54a-a2e1-4074-aff5-da3d69523e06 CLINVAR:1791142 biolink:is_sequence_variant_of HGNC:11634 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 60a78eb9-ab22-4c2e-91c8-53688b97f6fe CLINVAR:205491 biolink:causes MONDO:0100040 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 68892468-b2de-4887-ba83-37b83d8a6a72 CLINVAR:205491 biolink:is_sequence_variant_of HGNC:3811 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1b6f6d4b-baeb-4849-88b3-bc86be289665 CLINVAR:589694 biolink:genetically_associated_with MONDO:0100040 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a4038033-1316-4e67-9213-8c136265c2ec CLINVAR:589694 biolink:is_sequence_variant_of HGNC:3811 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6a733baf-7065-402d-8c72-f946cf1feb28 CLINVAR:205483 biolink:genetically_associated_with MONDO:0100040 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5f37444d-b68d-46f6-a5a4-8d4347cdc7df CLINVAR:205483 biolink:is_sequence_variant_of HGNC:3811 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f3a76dd3-8dc6-45ec-8a4f-bfced82fe0fe CLINVAR:427212 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2c1c98e9-5074-4f45-a5ea-d67af9234321 CLINVAR:427212 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 253d439b-660b-4dc6-b4a7-1cce01af16fe CLINVAR:426177 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4678d2eb-9dcc-45bb-a636-33788d922f9c CLINVAR:426177 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 06328cf2-83c8-4845-a126-6ab636ee825b CLINVAR:418711 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen cdd4f82e-e925-430a-a71e-3b786e4949eb CLINVAR:418711 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cf2c92da-8150-4efc-9099-bc4de256916c CLINVAR:2757098 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2b58b18f-612b-4cc7-8485-faa92f646765 CLINVAR:2757098 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 33a218af-b05a-41d2-85d6-42d2c765af82 CLINVAR:2839411 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5c9ecc85-b24d-4730-9d3a-d1827949465d CLINVAR:2839411 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3562e9dc-f74a-4758-9188-7e6a8742bdea CLINVAR:2701885 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 178e4e94-1971-4f6c-931e-2c9e670f2c2c CLINVAR:2701885 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5f9f2a7b-6a64-4786-84c2-822a2fc91b27 CLINVAR:2029556 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4935a596-8969-42fb-8017-8cd393f88894 CLINVAR:2029556 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d182221e-336a-4056-a75c-c97e20363fd3 CLINVAR:2911507 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4c839232-7e91-4baa-b690-b166aa0ddf85 CLINVAR:2911507 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c869822c-a0b8-495f-ba81-114cae619f92 CAID:CA410148059 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 06f20dd8-a868-4f00-8f26-67f2ad2aeccb CAID:CA410148059 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 08b7eb4a-a01f-4521-90bf-a4440883e42f CLINVAR:1211932 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1c4560f3-8b15-41f4-ad50-d96daa341b2b CLINVAR:1211932 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 713f2134-c4f1-40a8-8ac6-853abb5b9ff2 CLINVAR:2840535 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3165819e-9476-4f46-af09-0ee3b3ba5a03 CLINVAR:2840535 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2dee9b1e-75d8-44ab-a39e-ac0db1f23225 CLINVAR:2808406 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7804bb34-4838-4ce3-bfca-ff697425e98e CLINVAR:2808406 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 10d5349d-8ddd-4d8d-a6d6-35626eae3e69 CLINVAR:2857333 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 06ff8165-37cc-4ea9-b81f-cabab87e7a5a CLINVAR:2857333 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e4362521-f925-4434-a558-feec2196697b CLINVAR:2857331 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7b24e8b8-a9c4-48f3-bfc6-3557631a84e7 CLINVAR:2857331 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 55b941cf-669a-4ef3-8846-cc874b18f7e0 CLINVAR:2746077 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1cf9e9b5-621c-4c07-a396-6bca0c35faa3 CLINVAR:2746077 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0350e9c4-fe68-4848-b8cb-e20f8bd80732 CLINVAR:2808511 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e6e7424c-9903-4928-8d26-d3366745336b CLINVAR:2808511 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4c00f548-d45d-47c5-ac34-4e51d5e021e4 CLINVAR:931873 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen fd262558-4381-4488-ae2a-acc2630c5873 CLINVAR:931873 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9bbf75ab-df9c-4a40-b475-c23995374520 CLINVAR:435438 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen cb6b6d74-20a2-4d5e-bd87-1325b59deb5e CLINVAR:435438 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6a773f59-4b56-4216-99c8-2d683cf02503 CLINVAR:447522 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c8d98773-1b08-4c53-9ed2-05744c44d10b CLINVAR:447522 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c293bc89-1dcf-4b80-aa2d-cd427e989387 CLINVAR:9210 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 54076b5a-7e27-4a30-875e-5cfc11433ea9 CLINVAR:9210 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3ea02671-e294-43dc-9241-dcd3a4c01560 CLINVAR:437910 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7e9b8dfe-0d68-4bca-aa71-6f422739216b CLINVAR:437910 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen de266b02-0a4a-48cd-a6a5-135826e94b4a CAID:CA2695217482 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen aee12a9a-0fa0-40d6-8c96-22bacdf99355 CAID:CA2695217482 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6128e46c-2c9a-4352-b7c0-ebf5f9fa2a44 CAID:CA2695216034 biolink:genetically_associated_with MONDO:0015628 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 430461e2-f71f-4992-acf2-d18e2efdc0b2 CAID:CA2695216034 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d234bfc8-d31a-4e5c-929f-6e9a62243115 CLINVAR:100231 biolink:causes MONDO:0015631 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 666338d7-86ea-4074-8fb0-530504cdac81 CLINVAR:100231 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 60afc0c4-5233-4f71-94a2-b0fc2a2045f5 CLINVAR:515407 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3dfa4142-1105-4840-a688-709b5600f49c CLINVAR:515407 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c71ee481-7ec6-46ce-8db2-2197e2f49051 CLINVAR:507529 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ad098117-6633-46ec-854d-a905d8a80f13 CLINVAR:507529 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 19a8272f-1d5f-418b-9695-6e54c5e2d079 CLINVAR:510672 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a4d235b6-135d-41cc-9bf5-7fb04736f5f4 CLINVAR:510672 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1213a290-a7b7-494b-8c9a-47023ca2cf0b CLINVAR:193975 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1f2c3716-bb2e-4d05-9a46-9b554c817d0b CLINVAR:193975 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 45647e6f-1a49-4868-890f-d01ed795118b CLINVAR:864108 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4f98f07c-e0f7-48b9-9ad0-ede3390ac3c3 CLINVAR:864108 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e735924e-3cf1-4969-bb02-2a175299af59 CLINVAR:642648 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 92ce48fe-ce41-4256-a381-0d99879b4c1a CLINVAR:642648 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e2000f6e-63f7-444c-9d39-ef6d1be6ae93 CLINVAR:182963 biolink:associated_with_increased_likelihood_of MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8fb119d8-6e2b-44c8-b935-1a96b8a85988 CLINVAR:182963 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b86fc9dd-f092-466e-8617-fa31e1844af5 CLINVAR:12374 biolink:causes MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 825e79b1-2a3e-4a2a-aabb-166f061dddd5 CLINVAR:12374 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ce59479f-f6f7-4659-a5d4-018810bb83be CLINVAR:376649 biolink:causes MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen de87a0f8-18d6-4fd3-8e12-33d2fe2aa7e6 CLINVAR:376649 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a32fe0e9-dfac-4cc9-b946-5254a699be64 CLINVAR:215996 biolink:causes MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c3009853-4589-4916-bf9f-38b36c58dc53 CLINVAR:215996 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c13aafdf-40a9-458c-8471-8dcf3530393c CLINVAR:12371 biolink:genetically_associated_with MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d19b5ac4-3e87-4b53-8727-9a3a6eed8c04 CLINVAR:12371 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5065b8ec-9495-44df-ac05-ba418753f456 CLINVAR:102645 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 271ef70b-645e-4ee6-a5cd-b80ab1cb9fc0 CLINVAR:102645 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 808912f0-cf71-4df5-8ba7-fe75e0ab37e4 CLINVAR:102728 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2666dcc2-c4cb-42a1-b3bc-3ac2d46ace77 CLINVAR:102728 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5419f4b2-4c2e-4054-a721-32bdc884795a CLINVAR:102575 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 72782df8-128c-423a-a227-7b96cc0d9b90 CLINVAR:102575 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8f54e2d7-a403-4657-b23f-2b355b502f41 CLINVAR:102895 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen daadadb0-50e3-44aa-91a9-996ab3ff27f7 CLINVAR:102895 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9e1d3036-7875-48cc-b200-9ad5c67e2a2a CAID:CA16020839 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 07ee8429-f26e-4a66-8565-bc4c40744ee1 CAID:CA16020839 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cee5e97d-ec35-49b1-98dc-c4757696f807 CAID:CA16020814 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3deae039-14c5-40e5-98e1-adc2404045e6 CAID:CA16020814 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 19038a44-1de7-4773-a474-8f8bc84c18f5 CAID:CA16020783 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen db66649c-2400-42be-a3b6-e14f035fd7f8 CAID:CA16020783 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 48c7ec19-874c-41e1-a18a-ec56b205800c CLINVAR:252114 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 66b2f648-900e-41af-9553-2600de2c3e72 CLINVAR:252114 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cd2d9c9e-7786-4d3a-ad50-32c82e8fb1e6 CAID:CA1139655403 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 028a979c-3789-41ac-8e24-9bf2697bde12 CAID:CA1139655403 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 21eaaf18-6b74-43b3-9689-b4b09335f388 CAID:CA386965322 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 86008a44-2ad6-4db7-9dbd-7e7893a1ff02 CAID:CA386965322 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6c66bd4a-c509-4cf2-8976-17f28eff7a8f CAID:CA386958847 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c21f1698-d383-44fb-b633-fa59b77b05db CAID:CA386958847 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 540539e1-40bf-485f-acc7-9fd4cc7844ad CAID:CA2837589098 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 62a0265a-4c3e-41dd-a84d-466cc1a88852 CAID:CA2837589098 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen de08ed58-d7ab-4ef6-80fd-12c143135b82 CLINVAR:972751 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2466c3fe-d590-4d32-9b63-9ffe2bc7d607 CLINVAR:972751 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f7faac89-476b-4a68-8431-d9eef41375b1 CLINVAR:2746579 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f8de876e-188d-418a-a962-3e3c16382d2b CLINVAR:2746579 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 52a673ea-3532-4282-890e-285e8a4da049 CLINVAR:1398400 biolink:genetically_associated_with MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f04212f8-7c8b-4de7-94da-af6aa77ea10b CLINVAR:1398400 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f463c62d-9714-44a1-94b5-55fb80344e87 CAID:CA409106119 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7d5831c2-19b6-4c1c-b86d-e9d0fd3c5354 CAID:CA409106119 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7bba6c49-a641-4453-9656-21875900a7d3 CLINVAR:586009 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen efc1cf4a-ba5d-44a9-a939-40a5328894fa CLINVAR:586009 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e0eeae74-5142-4dff-bf78-299550587bc4 CLINVAR:977222 biolink:genetically_associated_with MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d70fb74d-7a3e-4486-bcf1-805752d26f11 CLINVAR:977222 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b738d8c5-b449-4ff1-a575-51be2c9922f7 CAID:CA1139655404 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 31ef2f8f-f4e2-4f67-84df-c467b6d5ec62 CAID:CA1139655404 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ae1f236f-d4ba-4394-8798-def67772ac95 CLINVAR:425733 biolink:associated_with_increased_likelihood_of MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1deb2bd5-25a2-4d4b-92ca-db0a525b8e6d CLINVAR:425733 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d6aaa75d-6eb8-4366-883f-957c3aae74d1 CLINVAR:425842 biolink:associated_with_increased_likelihood_of MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c18c90c6-ef16-4dc5-9a11-4f821a274d6b CLINVAR:425842 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1cf79d4c-4473-4952-afbd-ace4c562c163 CLINVAR:425844 biolink:genetically_associated_with MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6d77879b-e321-4974-93ba-a782800dba05 CLINVAR:425844 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b18c0523-62ec-4131-af14-53d79275e365 CLINVAR:2854758 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5e0609e0-9b18-4f02-9c26-41f5d5bacb23 CLINVAR:2854758 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1e07c971-7714-466f-8e21-86b220699aaa CLINVAR:2635335 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e9c8383b-79d3-4a97-a7e0-6f81e789b3bd CLINVAR:2635335 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5b0203a5-3799-4fb3-b5bc-af1245bf76f7 CLINVAR:2820865 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4ec31bd3-eda2-4640-b355-29d2941d9ee5 CLINVAR:2820865 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 02262b10-72cc-4208-b604-a32274550704 CLINVAR:2759299 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 16d92740-6ccc-4e2f-8ed6-9fc98cfd4c21 CLINVAR:2759299 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e1ae03ce-b428-4caa-bd0d-d67c9589eff2 CLINVAR:2705087 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c3f8196a-e231-4b18-87d5-b2f200a90823 CLINVAR:2705087 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bfad2bf9-b57f-49a0-888e-37e80c8a083a CLINVAR:2101398 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b91b0bed-73a8-4a5c-8adc-4ed9521a0c76 CLINVAR:2101398 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ccb4ffa1-8d49-4d37-9d15-9c152a76b790 CLINVAR:2106464 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 85bf12c3-0353-4cde-9edf-eda7f7bee7c8 CLINVAR:2106464 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 234ca65e-de9f-424d-86b7-e1cc4dced0c2 CLINVAR:2579542 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 33d93b55-473f-4277-bc33-9bba1e64de18 CLINVAR:2579542 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e92b3862-5cfd-42f2-b45f-f533097b4a42 CLINVAR:2028205 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 948edb85-cfd0-43c6-8ee8-b63c99eda3b9 CLINVAR:2028205 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen df3113e4-98e3-4059-aad0-21043c537a52 CLINVAR:2008798 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9251d654-2b13-4508-8718-87546256719e CLINVAR:2008798 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8ab27729-6b1a-4d50-b4ed-a06111f067ec CLINVAR:1684398 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e649ecb4-4984-4e58-b4c7-c141d83f8183 CLINVAR:1684398 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 67000365-6313-4309-b4b6-ab4bf46fa8a6 CLINVAR:1460663 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a71deb3a-775a-411f-b36f-e29158938e3a CLINVAR:1460663 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ee2484fb-c62b-4417-85cf-0f40a59bd97a CLINVAR:1338564 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 29fd5c86-2d2b-47aa-9598-776cf6ff0087 CLINVAR:1338564 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5b56ccd7-a980-462a-bb21-19c98ce5cfe5 CLINVAR:1041897 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ab20f95d-1cb8-45a8-98d3-a913a85c8ad1 CLINVAR:1041897 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cae091df-bc4b-4b71-a878-c6639791056f CLINVAR:1045299 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5d1cd8cc-7e95-47db-80bf-1f8d5bd8fc31 CLINVAR:1045299 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cc75ae1d-756a-47c0-9a3a-dd719cc1bb40 CAID:CA410207977 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e041684c-41d1-46b8-8744-c0f2e27b78d8 CAID:CA410207977 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f2de32b1-100e-4e06-ab8d-f84151a5477f CLINVAR:2092471 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a4a34882-e777-4e26-8493-bcdb18645cd2 CLINVAR:2092471 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fa6e832d-5236-4f62-a58d-153d6033c708 CLINVAR:252115 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a1658e24-ce7d-4ddd-8d6c-a56da1b17b04 CLINVAR:252115 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c8d5815c-5bf5-45fe-9793-5f0b3073b100 CLINVAR:205591 biolink:associated_with_increased_likelihood_of MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c1b5469b-2959-47ff-be3f-0fae47a13344 CLINVAR:205591 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 13b659a7-1247-4aea-93da-7623233f9eb5 CLINVAR:2137773 biolink:genetically_associated_with MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 37ec80bf-1bc5-4228-b517-feff14d710c7 CLINVAR:2137773 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c7df616f-24bd-43aa-b603-468808344ff3 CLINVAR:205582 biolink:genetically_associated_with MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9dd9f304-4d58-4a12-aa0e-5a6e1a7b7e3d CLINVAR:205582 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3a47db58-ccd0-4d11-a15d-fa7350a49bcd CLINVAR:2815164 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0e19e348-a075-4dd9-8f7b-41de07fb0ce0 CLINVAR:2815164 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9f6487ef-2c7b-4f82-b844-71361ff264d3 CLINVAR:1142221 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen bb3c7e1e-37af-4a74-a5bd-bc9dfb4f0b07 CLINVAR:1142221 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen db4956c9-fd47-47d6-bc5e-65218a8da2ea CLINVAR:2042433 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2a614292-2073-4fdc-9922-66e8823cca3b CLINVAR:2042433 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e1e9befb-8b70-4801-84ea-95399ab7c8f7 CLINVAR:1473511 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1fbc2026-5f72-430a-b305-9f8ff06911c7 CLINVAR:1473511 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f70e30c7-da52-49cf-8ed8-a045563f6ac0 CLINVAR:1349433 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0e43f0b8-e3cb-474e-8e67-04459630f1d3 CLINVAR:1349433 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 99b73087-d92a-48db-bec8-b5ddfd460105 CLINVAR:2769013 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6f8e0c3f-d505-4848-9e00-de5c19202801 CLINVAR:2769013 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a7e6b24d-2ab2-4350-97f1-c18bd1ab90df CLINVAR:1967828 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 19efcc9d-b8c9-4e42-a483-ecc7a7219abd CLINVAR:1967828 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f251afbf-99d3-4481-8050-7c7b6d94b56c CLINVAR:2958710 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 19b0bf63-1d79-4568-8b36-59ed06769c1c CLINVAR:2958710 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a1827e0f-278d-470a-933c-61b57b73963f CLINVAR:2912699 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 612ed2e6-c2ce-4d21-a1d7-a2f4b920b4da CLINVAR:2912699 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1c9138cf-5b1d-43d8-8020-160cd75bfcee CLINVAR:2825312 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9f4827c8-f817-4b39-ab0e-cbbad0287cfb CLINVAR:2825312 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bc6cd09d-f0c7-4c04-80b8-22230b9162cf CLINVAR:2763182 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 718c2892-6ae9-4b8a-9c4e-b9a991a2faaa CLINVAR:2763182 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 71fa4cb1-07e7-477e-9e17-021be1edd35d CLINVAR:2807004 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 45413da9-cb1d-4b73-987e-dbab0f738f93 CLINVAR:2807004 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9a9749f9-5f98-4616-8669-75efd240ea25 CLINVAR:2737781 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 17cd724c-2e3c-426e-bd29-89472f4a9887 CLINVAR:2737781 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d109acc7-90d3-4cc8-8003-4c7cd967d632 CLINVAR:2737296 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5c5ffe5c-8606-426b-9b5d-79de2c695990 CLINVAR:2737296 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 30d05df0-9163-4b7c-897d-ac5b5a64ffe5 CLINVAR:2917126 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7e6316d7-5f2c-4295-9999-bd75df5f6432 CLINVAR:2917126 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a7b898f8-3cac-438c-a836-ace226c3329f CLINVAR:855888 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5e781021-c9b6-41e7-b2e7-c43cdfd879c4 CLINVAR:855888 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5f123915-db5e-421c-b533-c1c8b3ca78af CLINVAR:2695627 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4f21e572-850d-4aec-bb2b-beb99420d1c7 CLINVAR:2695627 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ccf1b2cd-2295-49ec-aa00-fe19a7ad57c4 CLINVAR:1002574 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d82e068c-dd4c-4010-b0e2-811c5eecdb9b CLINVAR:1002574 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d3fed4f0-f683-42e5-b5c1-b243c6426994 CLINVAR:1487422 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fa00437f-f1e5-49d4-9fea-7c633c4d6300 CLINVAR:1487422 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 130f9e1f-d19e-44d8-9f54-813af5b5b1f6 CLINVAR:1006857 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e6cba60d-4bf2-40be-b8a7-8a3895f1c88c CLINVAR:1006857 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 94a9d0c2-c727-46cc-80ae-f610bc9e1cc2 CLINVAR:2725991 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ee0bd301-5e7a-4986-ae85-ff9b3071e16e CLINVAR:2725991 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen caf8408c-c152-47a7-8f96-044b12aaf96c CLINVAR:2916977 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8e047300-362b-4920-b7a7-ea7e4e62c176 CLINVAR:2916977 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f868c2c5-73ea-4deb-91e2-5090c5fcad6a CLINVAR:2823780 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 91a43572-2102-4dd0-a90c-950666b3dfbb CLINVAR:2823780 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9916fbc3-c0c0-4c1d-9c75-f698c9bbff3d CLINVAR:1363734 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b85aa2f7-d9b5-40c0-b947-f638de1d52c9 CLINVAR:1363734 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e4fcce6c-1da4-46ff-a731-e167af4f7ef8 CLINVAR:3009082 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a7f88012-3f66-46f9-a0d3-1e073903bd74 CLINVAR:3009082 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c7d91cfb-5125-44aa-b12d-428d194e9d91 CLINVAR:1507948 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a19b8d0d-32bd-4d0b-9aae-733d146e3be2 CLINVAR:1507948 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7d30208c-e424-43dd-b9ea-edabba9705d9 CLINVAR:2734274 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 56c1162e-f8de-42c9-aca7-2b6bac51ed58 CLINVAR:2734274 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3c8de93b-cce6-43ce-87b3-bdf7790c8cb3 CLINVAR:1948845 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1c2c75d5-26c3-4ad4-8666-135a7483a7f7 CLINVAR:1948845 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 641f7a18-275d-458d-98f3-338a9854e73e CLINVAR:1470171 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9c3d9411-8633-4044-b03b-78bc6066948d CLINVAR:1470171 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eee5915c-5cdb-41fe-8ec6-77ff1e1f00ca CLINVAR:2718142 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9b071b2b-5ae8-4df5-a21d-d14af0d11168 CLINVAR:2718142 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 07d680cb-0208-43a8-a79f-54d3eade0811 CLINVAR:2630595 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a0bad928-202b-403b-be5b-d437acd3f9d3 CLINVAR:2630595 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 476066e1-0e1d-4745-a003-0581ceab535d CLINVAR:2972103 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3ccc2d2f-e151-4812-8dd8-3e11dea025e8 CLINVAR:2972103 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 902cf187-d61a-4b01-8778-3be0891a8321 CLINVAR:1400931 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9a6263c1-3c33-4b01-a865-aa2bd87cbaf1 CLINVAR:1400931 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 028053f3-f70b-4d91-8fca-fac823bce8c8 CLINVAR:2850045 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7473eeeb-4181-4a56-b599-1bed92ff2bc0 CLINVAR:2850045 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 433cf8fd-3adb-4a93-8f83-424f709fa1f2 CLINVAR:2716140 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a9e34d02-fa2e-45a6-a51c-266379c0c0af CLINVAR:2716140 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c4d98307-001d-4e86-bf97-38c114e00431 CAID:CA2830665544 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4a68b4aa-d672-4421-a261-d7198df3e65a CAID:CA2830665544 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4ee97bca-514e-4678-9508-b38bb5e0fa39 CLINVAR:1463552 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a3918657-e54d-4e68-a381-c106ffa6d733 CLINVAR:1463552 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aad757b2-8104-4212-ad3b-640784c4e53c CLINVAR:252173 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9c80f953-a069-4f77-b957-d3d21904a557 CLINVAR:252173 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5c4f68cf-0201-40e8-b0a4-207d04629b82 CLINVAR:3712 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ca88dfe4-308f-4668-a8c0-fcc759b7d653 CLINVAR:3712 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 50630efa-dd6a-4717-9825-1d2bd64d102f CLINVAR:2637205 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen af5463af-ceab-484a-b5e6-1bf386a01145 CLINVAR:2637205 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b6c438d6-fe81-4ed8-8e03-9162ab8463ff CLINVAR:2730931 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 86d154c0-38e2-4f20-a66a-63dc8e7edbd0 CLINVAR:2730931 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2fa252be-6a47-4477-8137-bc6ce8f1c197 CLINVAR:2764958 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e03f44ee-a8db-46a5-8450-103d079a64a3 CLINVAR:2764958 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ac8df9c0-2f93-4fa2-98ed-39f00c591b80 CLINVAR:580765 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0eafebf8-bffe-444e-8876-ed720e2976e6 CLINVAR:580765 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6356dffc-7f2a-4499-b19b-e44e79b485d7 CLINVAR:1057975 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f4cc05ae-c71e-4b70-83a4-a594a93405ad CLINVAR:1057975 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 880b1a03-8d6a-472f-8779-e7e827034d2b CLINVAR:1438740 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c77ec6a6-7dd7-4e85-91b0-f985ab4eb8c9 CLINVAR:1438740 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0acbb3fe-b064-418d-8dfe-9a240eabaf13 CLINVAR:812738 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen cf039640-ab32-4ced-81aa-1f0706839911 CLINVAR:812738 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3fb26d77-241a-42d8-b101-2584d0333f41 CLINVAR:942577 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 510964b8-eed5-4f44-9798-66c048b94eb2 CLINVAR:942577 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f014913e-3e76-453f-922c-d16e6600a321 CLINVAR:1437357 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8a0f92ef-a240-4673-9056-f94a776684c7 CLINVAR:1437357 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 596539d1-7c17-4cab-950d-a4847afb169f CLINVAR:463999 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 06382bb7-b561-4f21-9135-252f472ade3b CLINVAR:463999 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d7481ad2-269f-413b-a52c-2f6c380ee4fd CLINVAR:463977 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 780a0aa6-603e-4422-9d53-94dc4890a620 CLINVAR:463977 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fcc9af40-eb61-4e01-ba05-1deae5ded0c6 CLINVAR:3340471 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d992fc33-7a5e-4ca9-933c-20eeb28158b4 CLINVAR:3340471 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f418da30-a55e-4bee-9fab-662e44481fbb CLINVAR:2846862 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c1e8b206-a142-44aa-b51a-e2864ea4c7ee CLINVAR:2846862 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aea719bf-dc2d-4c88-a1f1-24a66f060a42 CLINVAR:2719217 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 436f0692-ffa3-46ae-872e-234e483a7d97 CLINVAR:2719217 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2572decf-ef28-45fc-b219-eeb3ecebcfab CLINVAR:897094 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6a2e8ae8-dee1-44c9-b48d-65b981e22b39 CLINVAR:897094 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0fc6dfe0-3bf4-4827-aa41-4593298a8635 CLINVAR:2743644 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d8e5c1bf-3ef7-4fd3-a892-b7c6a1a91aec CLINVAR:2743644 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 724a7b17-6aae-45f2-81ef-d9eafcbc0dfc CLINVAR:2789785 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ecd3df68-e1af-4069-a97f-e25bfc62ae7e CLINVAR:2789785 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0dc82a0e-2364-4ad3-9a32-da17fd44e605 CLINVAR:1014373 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 585f8897-c981-4192-b20d-a1f139a74e0a CLINVAR:1014373 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8e6378e7-15d3-4d05-9d1b-339ebc7a0884 CLINVAR:339798 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 584af1e4-77ec-4529-b18a-cf60096ecf19 CLINVAR:339798 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1610cd7b-9118-4969-9cc6-88edc1bfcfc1 CLINVAR:2678494 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 38badf7d-9c97-4217-9c04-1963adf5c654 CLINVAR:2678494 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1e488cbb-bd17-4f2b-b981-ce259e1b906a CLINVAR:2993180 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8d913d6f-534d-46a8-b70c-62b7bd72b00c CLINVAR:2993180 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7b7abba6-9ba5-4a7d-b080-09c16d8f4d5c CLINVAR:339819 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a679b4a8-8bf3-476f-b746-1c361fc16f96 CLINVAR:339819 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3c6b018f-3316-4678-b888-2c9e64c23ce9 CLINVAR:2769330 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2172647f-d7e4-4d3e-a368-9c1e9360dac4 CLINVAR:2769330 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 97f7f88c-5a12-4bb5-9a86-80891382a2b3 CLINVAR:2805900 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 152c9959-6494-4ec7-858e-baf878ab29b5 CLINVAR:2805900 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ca47c352-2a03-4d85-98ca-5a0c186a6fa4 CLINVAR:2696801 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d53318d6-5639-4c3e-a32a-14f18734710c CLINVAR:2696801 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a9e275ba-6e41-4820-ba30-bfc06a2e3247 CLINVAR:2826469 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2bc075df-ae02-47d7-86c8-0fbfeb50f2d1 CLINVAR:2826469 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 03b09280-9011-426f-a480-ff5ca0d51761 CLINVAR:2839110 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1c81bf0c-75f3-4fbb-9f31-3773601d3264 CLINVAR:2839110 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aeff575e-ab2d-49bd-8d71-525f0d3ad772 CLINVAR:2791325 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fb3bc4ab-18f5-4526-b039-1645b2bfc26f CLINVAR:2791325 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b1312892-382b-4d6f-9753-d96abb30d256 CLINVAR:3017323 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 79330ce2-ca50-4df3-aac2-ec3f97bbd0d5 CLINVAR:3017323 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d7571c88-77b7-4860-81d5-5d7d60907d7c CLINVAR:2814028 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c269737c-c0f8-4e78-875a-8c31e7ec7cd3 CLINVAR:2814028 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6679ecd9-e074-46a1-b271-4f69014f74f1 CLINVAR:2852638 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 537e0edc-be4a-4e31-9b87-5d3d8f05dda4 CLINVAR:2852638 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 863e407d-f23f-4a03-9db8-d5688c386379 CLINVAR:2699552 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d8365227-389c-4465-a642-8ade1666c60d CLINVAR:2699552 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c6fe1363-6cea-4d99-ac58-7fa8a42418fa CLINVAR:2662455 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3dc2cfe2-0b28-445f-9329-26f404439fcf CLINVAR:2662455 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 37a5e332-1c7c-4024-a3ef-438af9396750 CLINVAR:1362194 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 099b7847-65f8-44c7-9c43-fb2b284eeb68 CLINVAR:1362194 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fc042e4a-5b31-4aa1-afbc-29a42a3552c8 CLINVAR:2021813 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8bd884d7-344b-470b-9285-d03cd2c353fc CLINVAR:2021813 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e3238016-f450-418e-84a9-9763b089fb6b CLINVAR:1388634 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c176e198-d4ea-4631-aedb-57377c150e6e CLINVAR:1388634 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dca4552e-cd68-4e07-a64e-c8bc6a290cdb CAID:CA2830665545 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 962e5ea9-9d11-4e5b-86ca-e60e42caaca6 CAID:CA2830665545 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 448e01d3-88ee-48e4-a950-97f3fbe4930f CLINVAR:3241647 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9f5dc2ea-d6d5-4a83-be25-f09d91ecea41 CLINVAR:3241647 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 742172fc-ee81-4989-bed2-6e9cc265ae1b CLINVAR:180142 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8b7c3f73-df34-4810-813c-b91aa62d7b5a CLINVAR:180142 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 40831ab9-756c-47ef-ba24-f3b9b24a19f8 CAID:CA409104130 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d5d51a6c-cdf5-43d7-9732-bfa3968f7b80 CAID:CA409104130 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5fdef374-bb1f-4164-9f9a-61801031d118 CLINVAR:586023 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b5a2c973-1342-45a4-9215-d261e06ca920 CLINVAR:586023 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4fe8d1a4-3d91-46a4-9993-fe47d926cb77 CLINVAR:660789 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fb72ba31-2b5a-456b-adff-c0eca04d2b64 CLINVAR:660789 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen af863277-c043-4e1c-a301-dcf05e7ebc87 CAID:CA1139655402 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 407778d1-3a25-4122-9156-27535b277592 CAID:CA1139655402 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 73b7908f-19ab-4f19-9348-a913fc9822e7 CLINVAR:950322 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 85db96c9-6fd7-4b11-bf55-03751b9fdf3e CLINVAR:950322 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 07bf8894-27e8-481c-ae08-f4a60c0f802b CLINVAR:639328 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 93008366-b3e8-49b0-8268-65365a2f7456 CLINVAR:639328 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6c8087d5-217e-4972-aabf-6ae703ae2491 CLINVAR:1315930 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 858f9ecf-69cf-4ca8-9a8d-576c7d472e77 CLINVAR:1315930 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 94e87005-dc1f-4a51-979e-8cf2aeb41cfa CLINVAR:1973721 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f4f30d08-5648-48ab-a548-90c7fdbaa3fd CLINVAR:1973721 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cd39c600-6beb-41e4-ac6d-e9e88f4fbf03 CLINVAR:1684386 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 05bbcc03-733f-4523-8bf4-a8760efd8507 CLINVAR:1684386 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7e0836a7-b48e-4b9c-a541-af2a2afe90f8 CLINVAR:1064169 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 47945e97-76a6-4ee2-beaa-86b1df6ef9e9 CLINVAR:1064169 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d254bf18-29f4-41e6-a3a1-170cc0e2e40f CLINVAR:854013 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8b4a1c12-4b4d-48d5-9fda-f5e1b69896c0 CLINVAR:854013 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b2438278-7fe7-4788-aa29-8016a95ad977 CLINVAR:859484 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3e20807b-d71f-41d4-8793-a5377e678f60 CLINVAR:859484 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 65de9cab-5dd9-466c-a516-79b7ccfce927 CLINVAR:2718511 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5bdcdea3-6176-4a31-9573-a70f4ced8b05 CLINVAR:2718511 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a4be0a0c-6ea2-4d46-ad32-f26ad6a732e7 CLINVAR:2865768 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4dff89da-232b-48b7-ae2e-5f7cf521046d CLINVAR:2865768 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1896b8a3-2df8-47eb-8e86-81d62fa1a45e CLINVAR:1506422 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen dabb8b51-e6d7-47aa-8ccc-c678ef9082a3 CLINVAR:1506422 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 913628a9-144d-4db0-b7e5-18118f4b5b79 CLINVAR:643883 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ee4c8def-cf2f-4fd6-8f8a-0e9d0863d991 CLINVAR:643883 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e1857e78-ca11-4237-ae39-684c653d0b60 CLINVAR:1485668 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c544a294-0000-456f-887d-461b0d8ddfe5 CLINVAR:1485668 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9c835c87-a296-4027-b9bc-ad2b41a7d54f CLINVAR:2831823 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 07d9f98b-fc52-4f9f-99b6-0ba0d0c56f27 CLINVAR:2831823 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 40dc888e-d04f-4d0a-b349-549ac8e2dc30 CLINVAR:949250 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d41d31af-10db-4c42-bbe0-12577ce0bb93 CLINVAR:949250 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b8858eb2-1ca4-4c41-b280-44a22cb0f23b CLINVAR:1065582 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen bec5b71b-c058-44de-a6a0-93c5bdc302eb CLINVAR:1065582 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 80493ebf-d31e-41aa-b542-febef082467e CLINVAR:2435494 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 112cc661-b8dc-458c-a02d-b7a6575ff3df CLINVAR:2435494 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7bd74fd8-5085-4499-92e0-d4a2c5e8c7fd CLINVAR:339800 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 891bf4d1-a045-44a7-bdc7-9cb2717afd1b CLINVAR:339800 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 865603b6-6e76-40ff-b698-443311dada73 CLINVAR:576865 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 187105b8-4b0a-4599-bda4-a5286e033e81 CLINVAR:576865 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f78bc265-1089-470f-ae8b-92ff0bfd514f CLINVAR:971769 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9e8365df-e04c-40b9-9b7f-390132beef7b CLINVAR:971769 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8888a8e1-6de4-4b6b-933b-571fcaa57fc9 CLINVAR:840423 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 58dcf3f5-f285-4f00-9815-234a20ce139e CLINVAR:840423 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 798b78e8-894d-4c29-b89c-7d9b0f11c3fa CLINVAR:1009408 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ac08e8b6-d640-4c1f-b1ab-37a44622eb0c CLINVAR:1009408 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e2df20cb-3c22-461b-b636-5ecc3b5a990e CLINVAR:995686 biolink:associated_with_increased_likelihood_of MONDO:0008535 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 863c43fc-e760-406a-9f2b-6c438a43e4ce CLINVAR:995686 biolink:is_sequence_variant_of HGNC:3349 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 97ffecc7-ca79-478b-a38e-8adf8cd759a3 CLINVAR:213212 biolink:causes MONDO:0008535 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8443f4b2-da23-4119-9537-c19981ef601b CLINVAR:213212 biolink:is_sequence_variant_of HGNC:3349 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e2d1a28e-05ca-42d4-863a-0119d58c4684 CLINVAR:425876 biolink:causes MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c4e19ab2-815e-483e-bf0a-9b8165ee3aa5 CLINVAR:425876 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4ef61f83-68da-42d8-a313-3db87316dbff CLINVAR:425702 biolink:causes MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 13dd3ecc-048d-40d6-a8f6-8c251f2342ac CLINVAR:425702 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aa08d066-d182-4608-85ad-61f7802dc76c CLINVAR:425864 biolink:associated_with_increased_likelihood_of MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 59d6210e-cf22-4abc-b369-4d563be77003 CLINVAR:425864 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4aacdadf-3d22-4a45-91cc-42c89be29868 CLINVAR:389672 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 03c558cf-aebf-4698-a0b5-52266ac37e39 CLINVAR:389672 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 417bdffa-ba9b-4443-885c-ee094be5b8fc CLINVAR:1940407 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen bf8d8719-8c7e-4fb8-a926-3dab5d34e144 CLINVAR:1940407 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 64dd3f50-e33a-457d-a3ac-5efeb8ff7363 CAID:CA386959765 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c10001e4-6258-41c8-b0f5-29a8178dcf4f CAID:CA386959765 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 47e5c210-8328-429d-bf95-d17968df3dc8 CLINVAR:1338462 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3c61c80a-355f-4866-bb3c-fdeb08dffb5b CLINVAR:1338462 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 26146c76-57b6-4972-8a33-ecd65d87a71b CLINVAR:252096 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 36a8df98-1102-4427-8f5b-a77c8fd7d546 CLINVAR:252096 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ca8f0886-261b-4504-96bf-4a15db694663 CLINVAR:161284 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6313fd62-346d-4aa2-918b-447c7ead624f CLINVAR:161284 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen af9b9f49-7e11-4e06-93db-f897074f4997 CLINVAR:251845 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 94319dd6-467f-41f1-aaeb-525bb7feb5e7 CLINVAR:251845 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 51825931-2e41-4b90-8f40-85cd7ffcd218 CLINVAR:251844 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5ef77dea-faf9-4892-9c97-d5c5a36b53af CLINVAR:251844 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b457a66c-a5b9-4769-b762-6b83a95409ed CLINVAR:251846 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e04aacd5-044a-491a-9ada-9cf06e39669f CLINVAR:251846 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e8da50e2-dc4e-4237-9fb9-4d94759eda02 CLINVAR:189297 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ad3e85f6-8ac1-4872-8c4e-4b7f7a33ad1b CLINVAR:189297 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 355da229-8f02-4939-a98b-aaa91e83f2d1 CLINVAR:438325 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f7979392-15fc-4164-8229-cf52be3bb611 CLINVAR:438325 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 86be77ed-f670-43ea-a927-a704fc35ad1d CLINVAR:375822 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen baadf249-5650-4ecf-808e-85249e10ee92 CLINVAR:375822 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1e939fa7-555b-4217-8807-81092ac7b1ef CLINVAR:921461 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 18837a6f-c811-4ca4-bd4d-26e590352d6e CLINVAR:921461 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9e804454-4e9b-4190-a46f-5aa6e74b6f44 CLINVAR:251881 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ce14a7b2-5029-4441-924a-7540250ca644 CLINVAR:251881 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3e1e44e1-c0fb-4461-b97b-a83906588037 CLINVAR:926176 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a0861942-b989-4721-9fe4-07504c495310 CLINVAR:926176 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 520a478c-d92a-4f82-b7c1-3c4cdc96eeb9 CLINVAR:251249 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c0cfb165-e90b-42ee-bb09-c4de85534410 CLINVAR:251249 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 70e085b7-4826-4427-b9d5-173a0fa69adc CLINVAR:251252 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9af8056c-c898-402e-80fb-a09d2e3cdead CLINVAR:251252 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen df1885a4-0165-4c00-8465-deed60b5727b CLINVAR:183089 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 80a262e8-221b-432d-9766-f829cc09afa7 CLINVAR:183089 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 695b7600-9875-4277-bec8-99077e074046 CLINVAR:209088 biolink:associated_with_increased_likelihood_of MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c73c8b9f-11f7-45b1-83e5-563268a4bf13 CLINVAR:209088 biolink:is_sequence_variant_of HGNC:6742 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 07c58ac3-3f68-450f-bb18-27131dfb1d54 CLINVAR:289969 biolink:associated_with_increased_likelihood_of MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 82da0258-8661-4347-a331-b084f563190f CLINVAR:289969 biolink:is_sequence_variant_of HGNC:6742 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7a69382e-66b4-456a-9792-1331f8fe8021 CLINVAR:373089 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 793719c5-36fa-4b2a-8414-836fffcf0852 CLINVAR:373089 biolink:is_sequence_variant_of HGNC:6742 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b3ff80e9-c0e5-4d42-8d04-e1ae1fbc4234 CLINVAR:9447 biolink:causes MONDO:0018997 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 00e66332-451e-40cc-98fb-16db10b4b625 CLINVAR:9447 biolink:is_sequence_variant_of HGNC:17271 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1fbb4f64-634b-439a-a83d-61ddcbc5ed18 CLINVAR:626912 biolink:associated_with_increased_likelihood_of MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 153e374d-8b07-4aee-ae08-13d3e28caa9f CLINVAR:626912 biolink:is_sequence_variant_of HGNC:17271 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cbf385e6-e302-4e13-8351-825d7bc53557 CLINVAR:222971 biolink:associated_with_increased_likelihood_of MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 62572149-02f5-4d4d-b25c-809d603a75d9 CLINVAR:222971 biolink:is_sequence_variant_of HGNC:7989 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 79fe6264-edea-4623-be8e-5421428928ad CLINVAR:13902 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4f586ab8-b14e-4262-92c4-bbac65740390 CLINVAR:13902 biolink:is_sequence_variant_of HGNC:7989 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c23a89a6-97e3-49de-9ebc-7dcc0c3f1044 CLINVAR:1319383 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4dfa1fde-cba3-4514-b466-a5ba9910a24f CLINVAR:1319383 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e77b5a08-c633-4ba2-8867-a004a2facd1f CLINVAR:1556993 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen eb124bab-9600-481f-b139-7781057294aa CLINVAR:1556993 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 04065ad0-b945-45d5-9fb0-fa842b2549c7 CLINVAR:2121544 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 645fce5e-5052-4ac8-9411-7b3158916516 CLINVAR:2121544 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 278a0120-2e8f-4b61-9838-c89b906aaf3d CLINVAR:864271 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9bee3080-4019-482d-beb6-6a8554369650 CLINVAR:864271 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 42f9dba5-b092-42de-8c42-61004d285180 CLINVAR:1435320 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen daed84f5-0a9e-4e83-96c8-e7a57c37e40f CLINVAR:1435320 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8284f037-84f2-40ad-83bb-c1a69db567bc CLINVAR:582967 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ffc772da-455d-44a0-899f-476121db03e3 CLINVAR:582967 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b7292cd5-55aa-428a-8ffe-20ea5673e275 CLINVAR:2038636 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 769e9e5e-ea2b-4c9d-a603-552f55d7946b CLINVAR:2038636 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ea1fdc38-21d0-4d37-8631-bb24777472a7 CLINVAR:2115774 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 805ec54b-f8e6-495f-9a9d-64a87db15520 CLINVAR:2115774 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ee0513dd-dd24-4a4b-b694-73b31fb7a96e CLINVAR:846424 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 18cb6be1-fa9c-4883-8d4e-ea4d9485f58a CLINVAR:846424 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f6c7692a-04b8-4ba0-861c-7c2097cff5b2 CLINVAR:1365004 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 99aa757e-1fbd-4664-867d-c888e40a1c1c CLINVAR:1365004 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 694fa286-1649-4c0c-8065-2a0a546b26c2 CLINVAR:937279 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c9c860eb-d39d-4af1-828e-fa3d14b00f04 CLINVAR:937279 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8a17221a-fca4-4682-bddc-5762df7e96cf CLINVAR:1485224 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 690db1c7-558c-4a11-a4af-58d4523899fd CLINVAR:1485224 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 061374ed-acbc-4b3a-9271-794e1018a6d2 CLINVAR:1018068 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5df58c84-148f-4ea4-8e23-aa29a12d3cbd CLINVAR:1018068 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fbe08228-061c-4226-ae86-3106441d9907 CLINVAR:1368262 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f4ab8bec-d67b-4a48-90ae-311b443ba3a2 CLINVAR:1368262 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 08701fc6-e62b-40e6-aa6d-581015ff579f CLINVAR:409811 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 72e518d2-05bc-42f4-88bc-fc59ac2573a7 CLINVAR:409811 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f79797c1-eee8-4773-a388-247b3aa99096 CLINVAR:1483319 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen eed9d594-e091-4461-af7c-48986b2b3d6f CLINVAR:1483319 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c78464c1-9b02-45ab-9614-0daa531d1692 CLINVAR:1457387 biolink:genetically_associated_with MONDO:0100083 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0d28452e-ae49-4d22-8620-b81456fa1fc9 CLINVAR:1457387 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 802c7761-cd25-4a40-86e9-0ae93dab5614 CLINVAR:409812 biolink:genetically_associated_with MONDO:0100083 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen bd9db882-7310-4b99-bc35-9f6441ddeb80 CLINVAR:409812 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 12d589fa-5364-454d-9dbb-a6f099e4ca89 CLINVAR:1509019 biolink:genetically_associated_with MONDO:0100083 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a051e0b9-faea-4ed9-97eb-221cadda1205 CLINVAR:1509019 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b1c3250b-09eb-4bc6-984e-3e44a892de09 CLINVAR:2041194 biolink:genetically_associated_with MONDO:0100083 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen dbe45830-2066-45f1-b886-46627f2da8c4 CLINVAR:2041194 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d8631367-baa9-4a7e-bdbd-adad55c616cd CLINVAR:858173 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fbd89bf5-3057-4747-aebd-e4f2123bea95 CLINVAR:858173 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a8512a90-f051-4797-a5e5-81bdf8f66cac CLINVAR:1949129 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f05ec3cf-3668-4f66-a6bd-e526f0fda70e CLINVAR:1949129 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e50c78d3-f588-44dc-b2e8-e5b62b4881c9 CLINVAR:1003366 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b174154a-5fd6-4d01-8b48-8ec875e72795 CLINVAR:1003366 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e2865723-5709-43b5-b607-ad5227a711f7 CLINVAR:1514219 biolink:genetically_associated_with MONDO:0100083 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f88d884e-0289-4ea2-b951-f34b2cda9c49 CLINVAR:1514219 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b1422aa7-a620-434f-bc85-f1d3c5280aca CLINVAR:1512969 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 258530ce-eebb-4c26-b964-6355f5300f26 CLINVAR:1512969 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6b4cbbbb-3db9-47a7-b829-01290891006d CLINVAR:2003504 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9167ea0b-9ee7-4267-8ebe-6f8127e8f19f CLINVAR:2003504 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 88638d6d-25cb-421e-a8e9-74dd1ce49179 CLINVAR:1001532 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 72eb6377-9916-4281-9b2a-4b673952660b CLINVAR:1001532 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7b167bb5-20bd-4aef-b0ca-475edb8ff81b CLINVAR:1507291 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e412c471-d05e-49a6-9839-4c1f55cb26ae CLINVAR:1507291 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1e953616-8365-4cc5-b29a-c21d9798157f CLINVAR:1058050 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4af5ceeb-1074-4146-a3b6-1a60c2612ee1 CLINVAR:1058050 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 506005f4-72d5-4a97-bf0a-c1d3c56d2706 CLINVAR:2465691 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c78c3bec-665a-4b14-82a6-b850370f056c CLINVAR:2465691 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fde890f1-d754-488d-9e0b-7f6cf44c68cb CLINVAR:967043 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen aa5afaaa-3d3d-43ec-ab44-e29beea63549 CLINVAR:967043 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b33c4a22-c4c4-492b-b732-e4dfadedf86d CLINVAR:1018620 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ac27a1a4-14b0-4cbe-883d-cc29cf63abfc CLINVAR:1018620 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4149156f-2dce-4020-b45b-70fdcbc5a99e CLINVAR:464012 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen dae253c9-172a-40ef-9866-e834b412763d CLINVAR:464012 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 85a78986-7946-4b65-9003-7d4db6d59a96 CLINVAR:1392067 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 63c8a9d3-d8e1-4cde-8884-606a27813f5d CLINVAR:1392067 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4b2902d8-350e-4b4a-8380-58dff91883fa CLINVAR:966213 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b780be77-acba-42f3-bc02-a56aed75fee0 CLINVAR:966213 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8209ce0c-4c7b-45c5-9cef-375a5067b6c2 CLINVAR:1351602 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5fb849e8-5660-41ed-a0df-b5e8767b4a2f CLINVAR:1351602 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9256a0c1-c969-40b3-b828-8010492a59e0 CLINVAR:851830 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 43832f93-98c6-4b5c-b7b9-f9ebbc87a0b1 CLINVAR:851830 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3a199b45-7809-4ed6-8148-a7e38712029e CLINVAR:1042743 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen cc50f3cf-7277-4801-a35e-9efb4a973ccd CLINVAR:1042743 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 46e607e9-3a6f-49a9-a098-b8fd7b4b76d5 CLINVAR:1354221 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8f3207b6-39ae-4d79-a82f-3556e061c39b CLINVAR:1354221 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1e48f5c0-7bed-4f71-aee9-7d37b1ec32c2 CLINVAR:839054 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3cec209d-e5e6-4b2a-8254-74345024802a CLINVAR:839054 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7adff5fb-0790-4ef8-87da-90a7f3a6a360 CLINVAR:532654 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5d83a6b6-0cce-44fc-87ef-7fbbe3fd534a CLINVAR:532654 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 19fc3538-5776-4939-adcc-8d24b3e2af9e CLINVAR:532655 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen cb9fe2a0-825f-4911-928c-7b973e6157ed CLINVAR:532655 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4b6ee117-0130-4c5a-8e8e-3257f72eebfc CLINVAR:1350529 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 068fbf5c-a2c7-4e10-85a5-ddddd3b0fdad CLINVAR:1350529 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e82f4f96-e965-4772-8471-4eb6c12f2a11 CLINVAR:581279 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d299ca89-24d7-47ba-9683-f7e68d3db96f CLINVAR:581279 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9135124a-4bec-479b-8fa5-8206e044888a CLINVAR:1421576 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ebb3f048-a091-4208-a16f-5602a64cceda CLINVAR:1421576 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 93a26a76-8740-4a77-a05e-a615ab1e5f3b CLINVAR:1415388 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 274e0c27-10d6-432f-ae20-bcd8a14a6724 CLINVAR:1415388 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c03dd045-5911-4989-8d0a-ffa6dd564785 CLINVAR:1010346 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 21b1be4c-d7e5-449f-b58c-de0052e557fa CLINVAR:1010346 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 70badb50-7bf9-4936-ad0b-f31d1b2275de CLINVAR:1000965 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0913b46c-bcf5-42af-904e-9b3f1644b8d7 CLINVAR:1000965 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 529304fd-6992-4061-88f0-518791fa0406 CLINVAR:1404038 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 68d809a4-1f87-4ca4-9d17-54b8edb1c14d CLINVAR:1404038 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2bac0398-5dbd-4a10-88fa-ff2022d0591c CLINVAR:1436178 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c9885e9c-384d-455e-9338-70b42213f790 CLINVAR:1436178 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ec184703-ad7b-4109-9611-da4581f6bca1 CLINVAR:1701951 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen bccda15d-364a-4e15-89b8-8147bda3e5eb CLINVAR:1701951 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 94bd3786-6233-4bed-bffa-c27fd05f5bd8 CAID:CA383506026 biolink:genetically_associated_with MONDO:0015630 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 669011e3-24cb-4aa1-a0f2-28b2cfbfbba1 CAID:CA383506026 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8f901a2b-6360-474a-9769-ed4301cde122 CLINVAR:586022 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 434bb860-50d3-4e9d-a512-7ca973e17193 CLINVAR:586022 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e9011dd8-af40-4ff6-a684-956f9cab9b74 CLINVAR:560681 biolink:associated_with_increased_likelihood_of MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen bf0da910-4a9b-4616-9d8f-617eb288be9e CLINVAR:560681 biolink:is_sequence_variant_of HGNC:7227 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c4800f48-64d3-4829-be4a-838245cb4d5b CLINVAR:635781 biolink:associated_with_increased_likelihood_of MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 17e163f0-c1ed-4671-8cdc-fbbcb1c0a99f CLINVAR:635781 biolink:is_sequence_variant_of HGNC:7227 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 50ebbbbc-9282-421d-b3c3-db891a4ab976 CLINVAR:635782 biolink:associated_with_increased_likelihood_of MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen daf05e56-936e-4f45-ba93-4306fc5af9f1 CLINVAR:635782 biolink:is_sequence_variant_of HGNC:7227 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 38ce4b9c-9c59-462f-8455-ee35fbf7a47d CLINVAR:254648 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0ec77e6a-a637-4569-813e-bcbd3dad618a CLINVAR:254648 biolink:is_sequence_variant_of HGNC:9282 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8e35117c-3524-4235-b409-2e906cd615dc CLINVAR:427633 biolink:associated_with_increased_likelihood_of MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 44254f0f-bb0a-4564-b078-1fc80aae3f0e CLINVAR:427633 biolink:is_sequence_variant_of HGNC:9282 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 205741e6-7c33-4791-b89e-43db772331de CLINVAR:393444 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7400e5cf-f934-4c3e-93c7-dca2937cc0f0 CLINVAR:393444 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3d17efc1-a94e-4922-bd8c-da037a973e00 CLINVAR:549555 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d615893c-1a02-4d6f-9851-d9eeffae0c70 CLINVAR:549555 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c04cab3d-c3d8-42c4-9830-cff64ca28c1f CLINVAR:36360 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen bc56a5ea-4954-46a4-94fe-326c4a85ffba CLINVAR:36360 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b961da28-7539-4a50-98d0-2f92c434cc4a CAID:CA2497028946 biolink:associated_with_increased_likelihood_of MONDO:0011132 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ad630c8a-3b60-4f21-ac89-23099ac4dfa5 CAID:CA2497028946 biolink:is_sequence_variant_of HGNC:12765 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8d1b0018-ee70-4afe-b143-98c8cc226350 CLINVAR:1966519 biolink:associated_with_increased_likelihood_of MONDO:0011132 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen aa3014fb-30ca-4cfa-855c-c2ad7658d0fe CLINVAR:1966519 biolink:is_sequence_variant_of HGNC:12765 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fab30546-004e-47b9-b276-09944a0e8c2f CLINVAR:2780381 biolink:causes MONDO:0011132 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 98fd8c10-13c1-46d5-a136-f19bcff0aa9e CLINVAR:2780381 biolink:is_sequence_variant_of HGNC:12765 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 98ed22bf-88b4-4d47-afcf-9bb382673ae7 CLINVAR:2088121 biolink:causes MONDO:0011132 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0e789529-6f9a-4060-8fff-302f6be571b2 CLINVAR:2088121 biolink:is_sequence_variant_of HGNC:12765 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6800b96e-1d9f-41a0-9534-efc230f20a7e CLINVAR:3018366 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 97722b49-54c4-42a4-87bb-ba2007ee2003 CLINVAR:3018366 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 94e68103-e75c-487c-8bb0-468d5ceb5891 CLINVAR:2678493 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f0b3f13e-bd56-425c-9ffa-9f66075d3b83 CLINVAR:2678493 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4f652a36-8d4e-46fc-b0c0-5b5dec466136 CLINVAR:2856448 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c5eb287b-b5bf-4c33-b626-f8abbed0fc1f CLINVAR:2856448 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6a79590f-2032-4cec-bb58-cb372d70618c CLINVAR:2678496 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 04a70683-2fd4-4e28-bc59-9491ddb8c1b6 CLINVAR:2678496 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen deb13c1e-f95f-4684-abd3-320dbca3797a CLINVAR:2713530 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c6d7d9dc-67c5-4c33-bd6b-4aaf68b41f5f CLINVAR:2713530 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 67dfd82a-bd02-4145-80fb-27aa62060b10 CLINVAR:2697441 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0e23e760-4da7-4345-a00e-9772dd949800 CLINVAR:2697441 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen babd7209-2f1b-4688-904d-19a448aa3bb5 CLINVAR:1361711 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 77bdd8ed-78b6-4ceb-a936-3b09ba7dee41 CLINVAR:1361711 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 03a8cb80-713e-4384-940d-aa2ff4f58826 CLINVAR:1610586 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fa4fc074-d88c-406e-9aa2-428f53c63d2c CLINVAR:1610586 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 192f445d-a2c1-4827-a0e9-42b0fc2d394c CLINVAR:569757 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e49757a1-d775-4820-926d-987cbfe268cb CLINVAR:569757 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 11a87fe7-9c97-4111-b526-162905832113 CLINVAR:1428742 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7dadf0ef-aeb3-48eb-ac03-2953f248ed57 CLINVAR:1428742 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cbaff00c-f945-47fa-b7ca-15ff39c5285a CLINVAR:864259 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 808fb3dd-5fad-40e2-b34f-7f124716b5a3 CLINVAR:864259 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 77c2b77b-e93e-4f8a-b269-e3a36f1b83f9 CLINVAR:1488888 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ece79613-9617-4a24-92e6-ebdf778bd1ce CLINVAR:1488888 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dca8a69d-3405-4e0e-94f1-f2e83220e154 CLINVAR:1364020 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c83fb533-7623-4e97-9305-e732735ea24b CLINVAR:1364020 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c44ef3b2-d136-40a1-95f1-f731beabc5ef CLINVAR:409815 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 51f029a4-2056-46f8-aadf-bb14d92334f2 CLINVAR:409815 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e1a88d8c-ef50-4090-ae7c-d1486b2d35b1 CLINVAR:627343 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1cb6a2d5-166a-4691-89e7-d43bd9f9d8e9 CLINVAR:627343 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8f0a305a-0a60-43e1-b3f9-bb3c950ff89d CLINVAR:2893433 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f62ec396-391e-4eaf-b5a3-0fdee7923cf8 CLINVAR:2893433 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 31c28dbb-141e-472f-bb61-e5f9c27c5246 CLINVAR:2694690 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 309872a8-2d45-4cc8-9b7d-71ca1780727b CLINVAR:2694690 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 70205d0b-5e82-4444-bee3-000f6c9b5245 CLINVAR:2815871 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ede8fc13-2e4f-46af-b32a-7c5b4fc85c6a CLINVAR:2815871 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 04b35893-96a5-441c-a78d-a82dd3db9fc4 CLINVAR:1356920 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 66b3ac75-9ded-45c3-9764-7d7d35a1f14c CLINVAR:1356920 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen defd5de7-c239-4eab-a009-5034883fec7c CLINVAR:2752186 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0048d9e9-65f8-40ee-bff9-a5b624565090 CLINVAR:2752186 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 477d7d50-5d2d-405c-85e0-812749d79b11 CLINVAR:1057196 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 310dab87-b48c-4483-ae75-e8d2a7ed5616 CLINVAR:1057196 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8ea5b1ee-c307-499d-9c4f-c6b903130da5 CLINVAR:1522045 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 28b4b7dd-2af1-41f5-88f6-cef95bd40c1e CLINVAR:1522045 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ca10d7ea-9824-4c72-a956-a6826236ab8a CLINVAR:848735 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0d306401-2a5e-400b-b884-a36f61e53aa3 CLINVAR:848735 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1852befa-ee99-4987-88a5-560f5a6936ec CLINVAR:2739759 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9b4af774-fe49-4635-8429-4a8724b6800c CLINVAR:2739759 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4ebf8b34-b2c6-4fdc-9d46-a3a497358c7f CLINVAR:339803 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 34b87d24-5319-4ef9-b2b7-29da3366bbe5 CLINVAR:339803 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f4053e8f-fdd7-40a9-ba59-9129adda9e28 CLINVAR:3023071 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2f986f3b-8afb-4453-8227-761e13f3567a CLINVAR:3023071 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a96890d8-1fc1-4542-8378-6243aea95bf5 CLINVAR:2995353 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 655c0f4f-6796-4b04-a54b-a98b99ea98e5 CLINVAR:2995353 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c8bf4378-8ca1-4aae-b05d-70409e35b787 CLINVAR:1718293 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen eded273c-32d2-49f1-a12d-2ce63576c67b CLINVAR:1718293 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 39c2afba-3c73-4889-9192-0d882b6712f0 CLINVAR:860793 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d4086911-1307-476e-bc34-4e2be045d9db CLINVAR:860793 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ce56e6ff-2551-443d-b348-8689561bd6ea CLINVAR:1420902 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 40c94e3e-a082-455d-aea4-acfdf4a0abe4 CLINVAR:1420902 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 01cc7c12-a0de-4340-978d-df372d64e4a3 CLINVAR:1046278 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1baf18db-9231-4da5-9017-5c83156c07bd CLINVAR:1046278 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 775f7e30-17d1-4f49-a759-8649ea9238f1 CLINVAR:860545 biolink:genetically_associated_with MONDO:0100083 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 31f23a76-1e05-49e5-825a-7c2c1656f4bb CLINVAR:860545 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8037b8c0-5439-4f54-aba7-bfe3b1e3799d CLINVAR:963047 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen aa8f1040-b5c3-4307-b859-757fa03c3d11 CLINVAR:963047 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fb6c2b94-00c8-463a-9b53-76be5b1989dd CLINVAR:2879675 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 51b16387-d2c3-4ffb-99e9-cc2e5cdfbae4 CLINVAR:2879675 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 403abde6-a4f5-4482-9076-14fec66784fd CLINVAR:2741843 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a62b45d4-11f8-4a80-bfc1-c21debce56da CLINVAR:2741843 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7a158f57-cde8-4e71-a1ae-17c3ef17c7da CLINVAR:2749609 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b80b1b48-464a-4410-ae7f-3e00863e9281 CLINVAR:2749609 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen af74d4f1-f19e-4404-8d0b-4d303e97d609 CLINVAR:2864169 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen dc721a0a-3191-4558-9bd3-4394722efd06 CLINVAR:2864169 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 06d80bbb-5027-4796-82f6-1e46c9eee971 CLINVAR:10199 biolink:associated_with_increased_likelihood_of MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c8e86c90-6cd0-4d08-88bc-6d927419310f CLINVAR:10199 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f44e509f-cdac-4b28-80db-9b9a75e85853 CAID:CA414892027 biolink:genetically_associated_with MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 358be8e0-d394-4663-977f-819351500e7f CAID:CA414892027 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b9cddc23-3006-46ca-b58b-0b268ee1d65a CLINVAR:209092 biolink:associated_with_increased_likelihood_of MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 66073380-f388-486f-8049-149e6c4d1520 CLINVAR:209092 biolink:is_sequence_variant_of HGNC:11188 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 21a7a278-1ffd-452c-a401-e834854678c5 CLINVAR:373121 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 84163961-079d-481a-bb48-dd5da82fd6b5 CLINVAR:373121 biolink:is_sequence_variant_of HGNC:11188 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8142bc24-5167-4fac-844e-ce7393935d48 CLINVAR:7280 biolink:causes MONDO:0018947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4f51b5ef-ae39-4e42-89ae-e8b36da0ef7e CLINVAR:7280 biolink:is_sequence_variant_of HGNC:2974 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3b372ee7-8e48-47ee-b228-333e69dff5d7 CLINVAR:449326 biolink:causes MONDO:0018947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8516a1f6-47c4-4d97-811c-05781907a543 CLINVAR:449326 biolink:is_sequence_variant_of HGNC:2974 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a0f4cce6-e3a2-4e55-a491-508baa43cad4 CLINVAR:931135 biolink:associated_with_increased_likelihood_of MONDO:0018947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 450fa882-0a98-46a2-9562-20d840b613ba CLINVAR:931135 biolink:is_sequence_variant_of HGNC:2974 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5f7017cb-c8b3-4b29-8d10-fd8bee208af4 CLINVAR:7281 biolink:causes MONDO:0018947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a2878f7f-c80b-4f2b-8028-7d3448980007 CLINVAR:7281 biolink:is_sequence_variant_of HGNC:2974 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6d378a31-44c3-4fe6-ba03-78a42f793a30 CLINVAR:7285 biolink:causes MONDO:0018947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a4595d0e-a6ec-4eed-a692-3361cd9d321c CLINVAR:7285 biolink:is_sequence_variant_of HGNC:2974 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c4897bfc-2a9a-42d9-8721-fad62358fb47 CLINVAR:7279 biolink:causes MONDO:0018947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8ec65b69-baa1-4779-8e57-21f74c6d9a18 CLINVAR:7279 biolink:is_sequence_variant_of HGNC:2974 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9f7e2a3c-2729-4f03-a868-dbd9ead8e004 CLINVAR:158984 biolink:associated_with_increased_likelihood_of MONDO:0018947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7a0be1c7-d9f6-4821-afc9-38c3d2d7f6ee CLINVAR:158984 biolink:is_sequence_variant_of HGNC:7448 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 29ac0219-6101-4d85-9023-7b4568fcfe5e CLINVAR:158987 biolink:causes MONDO:0018947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9eaeeab2-1039-48a6-bffe-11afb44b7796 CLINVAR:158987 biolink:is_sequence_variant_of HGNC:7448 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 377ff171-2cd2-497d-904a-85850029e6b3 CLINVAR:11055 biolink:causes MONDO:0018947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4180be03-e520-4520-9fe5-f369bff6c3fe CLINVAR:11055 biolink:is_sequence_variant_of HGNC:7448 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen acf9c2fe-8ef4-4b2a-bb73-aff7da665f54 CLINVAR:11060 biolink:causes MONDO:0018947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f5e36baa-7d5e-4412-a5f9-2de4c0ca9511 CLINVAR:11060 biolink:is_sequence_variant_of HGNC:7448 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8e977e11-92e1-44ab-8755-8a3314ed958d CLINVAR:11057 biolink:causes MONDO:0018947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6cdb5b19-7209-4257-ae2f-e8ed30ef8423 CLINVAR:11057 biolink:is_sequence_variant_of HGNC:7448 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1512301a-1668-40a9-8b7b-a6c2d79b3c57 CLINVAR:158926 biolink:genetically_associated_with MONDO:0018947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2018f916-1edb-46f7-b63c-3237959f13ca CLINVAR:158926 biolink:is_sequence_variant_of HGNC:7448 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2a4dfbd0-735a-4b5d-a752-1a925ebe4c3c CLINVAR:167307 biolink:genetically_associated_with MONDO:0018947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 23c9cca5-3c4c-4536-a29d-0bb1ac8603d1 CLINVAR:167307 biolink:is_sequence_variant_of HGNC:7448 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 97552b6e-8556-4ae7-9a77-8db44853c4ca CLINVAR:930768 biolink:causes MONDO:0010683 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8b25b775-4416-4fa8-9737-7ba261cdb5b5 CLINVAR:930768 biolink:is_sequence_variant_of HGNC:7448 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dc557d5a-58c1-4f27-a21d-c85a5d154ed4 CLINVAR:158953 biolink:associated_with_increased_likelihood_of MONDO:0010683 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e8adddc9-8245-4f48-9463-e04488cb6b40 CLINVAR:158953 biolink:is_sequence_variant_of HGNC:7448 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 64b1a5cf-c180-413a-94a9-636ed6c5bb6e CLINVAR:552042 biolink:causes MONDO:0018958 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 537fb1af-b677-40b9-82c5-ede3d31f0b21 CLINVAR:552042 biolink:is_sequence_variant_of HGNC:7720 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fdbfb551-8dc4-492f-bcbc-540475536441 CLINVAR:553493 biolink:associated_with_increased_likelihood_of MONDO:0018958 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 973c132b-f69e-45d4-be77-536432a57873 CLINVAR:553493 biolink:is_sequence_variant_of HGNC:7720 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bb30df90-f162-4a4e-aec9-355c6c6e1ead CLINVAR:496132 biolink:causes MONDO:0018958 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 67c7cebf-33b4-4a8b-8c36-7177592c80b1 CLINVAR:496132 biolink:is_sequence_variant_of HGNC:7720 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 06770576-bd1b-4807-b840-ae8ea023860d CLINVAR:506284 biolink:causes MONDO:0018958 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 79d03fe5-6c64-4e08-93da-03aade4c2064 CLINVAR:506284 biolink:is_sequence_variant_of HGNC:7720 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9c6e8c56-4ab4-44da-aa44-a264b1bb16b9 CLINVAR:552018 biolink:causes MONDO:0018958 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7a57705d-258d-4a9c-ac7a-6763a94dad6d CLINVAR:552018 biolink:is_sequence_variant_of HGNC:7720 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6530fe8b-64ce-49d5-bd76-fac08936095f CLINVAR:4027 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3a852400-88af-41aa-a441-b9d91ed281f5 CLINVAR:4027 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eaa3d69f-2151-4f8b-8fc8-f306088e2294 CLINVAR:2710027 biolink:associated_with_increased_likelihood_of MONDO:0100150 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5d3c13c1-1ed2-4b1f-9ba2-bc97422cd8df CLINVAR:2710027 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ba04ac20-9ca6-4d1f-9812-1ff5c4240415 CLINVAR:1253809 biolink:causes MONDO:0100150 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 695879fc-9457-4b6c-ac0c-19d07cee07b0 CLINVAR:1253809 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 318cf783-6a8e-4253-9d38-5ed067a48bf8 CLINVAR:642707 biolink:causes MONDO:0100150 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 268d54de-b4c9-4ed1-b7a4-88c08ba05b73 CLINVAR:642707 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e2fb1268-7972-4b54-9377-b2ddc45bb1b2 CLINVAR:12996 biolink:causes MONDO:0100150 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f022210d-9de5-4bff-b40b-5b5f443fbaa2 CLINVAR:12996 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b294d82f-23da-4a63-868f-6455e35becec CLINVAR:438314 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen eb300f19-e5b7-4213-81c8-4b860360e6fc CLINVAR:438314 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d3acf20f-2345-48ee-8a48-e660cca8e8b0 CLINVAR:203590 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 22097054-fb4b-4531-bc9d-8aa89acc46d7 CLINVAR:203590 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6841196c-65e7-4c63-8d0a-0ee6270eb566 CLINVAR:657040 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d42d9a13-5ba5-4264-8aaa-89eb9987a08b CLINVAR:657040 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 840310cb-82b5-47e1-b693-63234b2586dd CLINVAR:440637 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c71a59eb-88a5-463c-af08-d143dfbf75e6 CLINVAR:440637 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7980ddc9-e38e-479b-a800-232beb7a1382 CLINVAR:926526 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8dd675df-2c24-4858-9e44-826e8cc76ef1 CLINVAR:926526 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a8cfb9d9-e379-4604-9f79-1fb1d9c4912f CLINVAR:251817 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7ac19716-26f4-413f-923c-eb68fad3b924 CLINVAR:251817 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 915f882d-3772-4725-9d52-20b73b2b7597 CLINVAR:251766 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 567976d9-2a8a-4808-bbee-4da53ecfc5d8 CLINVAR:251766 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f35b59a8-9206-4190-9c69-0ca2484d0b60 CLINVAR:251765 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 21a35639-b93c-46a2-ad5b-b8247a55e95a CLINVAR:251765 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 10057750-aade-4558-b394-be5e3b5179aa CLINVAR:936786 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fd741d43-7d6d-4cd7-bcba-054c3552efae CLINVAR:936786 biolink:is_sequence_variant_of HGNC:10023 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dfbf953d-68e1-447b-ba6a-922d92314032 CLINVAR:561681 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6abb18c8-1a1a-4259-9ce6-45c9dabe50e2 CLINVAR:561681 biolink:is_sequence_variant_of HGNC:10023 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b0bb7a1f-1569-427c-b44f-859953893bf5 CLINVAR:560679 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 72ae85b4-73bd-4d51-b8fa-3d555d1e1ea7 CLINVAR:560679 biolink:is_sequence_variant_of HGNC:10023 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 08cc903a-3be7-408f-a65f-817070038bbf CLINVAR:451330 biolink:causes MONDO:0100150 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 23fc707e-a1e1-4b39-9721-b066d45909bc CLINVAR:451330 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0fb09ee8-81db-4ed5-9eb7-1f3b57bc5705 CLINVAR:12982 biolink:causes MONDO:0100150 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 58e28f82-6928-4596-8ed9-b9b47c398538 CLINVAR:12982 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9742c218-e905-4c1d-b82a-0aec038fd272 CLINVAR:582126 biolink:associated_with_increased_likelihood_of MONDO:0100150 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7279868b-5920-4e44-a2a3-7544b7d597ce CLINVAR:582126 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 33af9378-7e85-4fba-b6c9-7bde371fdb55 CLINVAR:201153 biolink:genetically_associated_with MONDO:0100150 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 993980e8-6138-44cb-aa54-79f81a86e086 CLINVAR:201153 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cf671b40-c1f1-4909-991a-049b6ef7f6e8 CLINVAR:1610571 biolink:genetically_associated_with MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b59adf90-41a7-4769-9474-ea4084bcef84 CLINVAR:1610571 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d4666405-d1ef-4949-963f-f14ea92105d8 CLINVAR:1576061 biolink:genetically_associated_with MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 60fe9884-011d-45bc-83c7-0c9520928bad CLINVAR:1576061 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ecd665f6-e8aa-43f0-9214-722d58fd6a00 CLINVAR:2295171 biolink:genetically_associated_with MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 181f73fe-bf63-46bf-b26e-422cf0a7ecac CLINVAR:2295171 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4b356c05-a25f-4e3e-8e99-27fe7bd2c05e CLINVAR:18012 biolink:causes MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d97ea6f8-5501-4ae3-9a78-24b1ecc9c1e3 CLINVAR:18012 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4963f85a-a8d0-4170-846f-9543aca4e909 CLINVAR:226353 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3cbd2401-c87c-4e3a-8cfb-7ed5ad4cb9e8 CLINVAR:226353 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f095a807-cc5a-4e0d-8a63-ffcd7f9362e2 CLINVAR:328053 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d8f2be6b-5aa8-4fc5-93ce-994a6d8f0598 CLINVAR:328053 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2458a662-4a24-41e7-9c48-5f4d5b8e1add CLINVAR:2057364 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 542d7055-cddd-44a2-8de0-920773cf01a1 CLINVAR:2057364 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a48f1133-5b35-4c67-b4a9-0204b116cb89 CLINVAR:251886 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0fb7655e-8cc2-4692-b539-4ed7d28f3ba5 CLINVAR:251886 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 373683d5-928f-4d18-bcd0-f19a04ea9589 CLINVAR:161285 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 16883a93-f516-4922-807c-2141814473fa CLINVAR:161285 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cabbf490-c174-4590-a5a3-ad81fa347af8 CLINVAR:251864 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen af122d45-76b8-45af-a29f-e700bb5d6dd9 CLINVAR:251864 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cbf3979e-1413-4032-83ef-18c2b03de132 CLINVAR:251865 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5e83dc70-e71a-40b5-964b-e77b2a603eaa CLINVAR:251865 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2ac63925-67de-4331-98a2-21bce5239fa6 CLINVAR:251767 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 779cb643-15aa-4806-827d-4d9a4711a774 CLINVAR:251767 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 57841fc8-548d-4c8e-b759-92ec4908b373 CLINVAR:3694 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 16e91f28-342f-4284-9019-d7073cf08a9f CLINVAR:3694 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 45d3968e-307f-4330-8229-a05fb03e464b CLINVAR:440548 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 29c3a3be-6215-40dc-936b-8e566063df2b CLINVAR:440548 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7521478f-5f37-430a-b9df-b46e796b914a CLINVAR:252308 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2625ba72-d3bf-47f0-ba4b-ac98db2a15ac CLINVAR:252308 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen caf7e9c2-feb0-4597-90cd-733cfbd4c473 CLINVAR:993226 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9d2fd632-dc18-463f-b331-8b6c6b823388 CLINVAR:993226 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen be593ad3-71db-43b3-b3d3-64a48f8386c8 CLINVAR:251900 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a7cfecf0-cdf3-4a20-9aa1-591cd59c843d CLINVAR:251900 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen feca11a3-3056-471d-ac73-f70997923330 CLINVAR:3696 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0b4c5935-94be-4d79-8028-fdc6a388205e CLINVAR:3696 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5dd3ff63-ee89-4c31-a551-3ef358b0fa6f CLINVAR:251731 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3d1d7533-f2f0-4953-92b5-b36823ad75ff CLINVAR:251731 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c32cb37e-f1ef-485d-a16f-ceb0a11785d6 CLINVAR:251870 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2156b6ff-50aa-4e40-932f-f94c41f6b97c CLINVAR:251870 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 34447b9d-4dd0-474b-bb77-0b6ab1195350 CLINVAR:919898 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 14558f97-5b12-4ed6-ba15-f76a28f62940 CLINVAR:919898 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9deed85f-fcbf-4074-b9cd-2c3a9b77816b CLINVAR:251130 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c7ad2e36-1991-4165-891e-4ffc57674eae CLINVAR:251130 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a64a837c-5519-4546-98b0-6ef8b06c2c81 CLINVAR:161278 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 22026cfd-5317-4f84-b246-49e35a55051f CLINVAR:161278 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 11d01072-69da-4e65-96c6-399393daea91 CLINVAR:1509293 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 98d5d11e-76cc-412a-8020-0346541124e9 CLINVAR:1509293 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 692d87d6-0bd7-4497-83d9-0426d14d7e06 CLINVAR:251949 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 07cd84f9-3a0f-4687-945c-e842daba321c CLINVAR:251949 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 60f0cd7a-d4fb-4b87-9a26-65cf1136dc0f CLINVAR:251147 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5c1c865d-aba0-4ba2-b737-b43bdbbeb648 CLINVAR:251147 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4d8e9e2f-a926-4773-9b58-5d3cb35f7cab CLINVAR:1000222 biolink:genetically_associated_with MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a3e8fd98-a75c-4e39-b725-9f027b7cd708 CLINVAR:1000222 biolink:is_sequence_variant_of HGNC:7127 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 65a4872e-0a6e-465c-8917-f9a68b95ebee CLINVAR:220185 biolink:associated_with_increased_likelihood_of MONDO:0007356 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f5b74105-053b-4801-a4eb-7c1ae72aa11a CLINVAR:220185 biolink:is_sequence_variant_of HGNC:7127 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 968a636f-8a1e-4fb4-a7f7-c144027497b8 CLINVAR:233523 biolink:genetically_associated_with MONDO:0007356 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen dad9e756-3e4c-4fcb-8f14-d2ed0c89148c CLINVAR:233523 biolink:is_sequence_variant_of HGNC:7127 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 810046d1-1308-443e-8c26-0f24a2ab978c CLINVAR:220203 biolink:genetically_associated_with MONDO:0012249 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9eb59a88-b472-414d-b515-947e16a63b66 CLINVAR:220203 biolink:is_sequence_variant_of HGNC:7127 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7031a8ae-f1d5-4e3a-865d-70942d6b60e6 CLINVAR:449776 biolink:associated_with_increased_likelihood_of MONDO:0007356 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d73c9ce9-f1f2-4d9b-9e0d-e57b7e6e5ec5 CLINVAR:449776 biolink:is_sequence_variant_of HGNC:7127 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0176bf95-dd63-4861-9e6d-069bb2dbd416 CLINVAR:619511 biolink:genetically_associated_with MONDO:0007356 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a5f9484d-2c77-4b83-9ab2-783326c13f33 CLINVAR:619511 biolink:is_sequence_variant_of HGNC:7127 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c2b81883-6bd0-47c9-88a8-4c372d07bb72 CLINVAR:90178 biolink:associated_with_increased_likelihood_of MONDO:0007356 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1ea51b5a-58e4-49b1-a416-9d5e2327f5fb CLINVAR:90178 biolink:is_sequence_variant_of HGNC:7127 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ac66a85a-4f8f-4da5-8d66-5b2cfd04aaba CLINVAR:90011 biolink:genetically_associated_with MONDO:0007356 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 41cb1863-05ea-4720-bbd6-20a332141c69 CLINVAR:90011 biolink:is_sequence_variant_of HGNC:7127 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6f75a14c-aa0d-4504-8dca-934fe7fa3542 CLINVAR:561172 biolink:causes MONDO:0012249 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2f9e13c8-5b4d-4f76-9718-31538038c033 CLINVAR:561172 biolink:is_sequence_variant_of HGNC:7127 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f4cfe29a-36e0-470d-8dec-54b0d47d9aa4 CLINVAR:89816 biolink:associated_with_increased_likelihood_of MONDO:0007356 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7ce8c82b-a8c5-4487-937f-fe5f449d82c0 CLINVAR:89816 biolink:is_sequence_variant_of HGNC:7127 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a3542070-aae8-4c8c-87d9-3da45abcb633 CLINVAR:619558 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 90f90ecc-37b4-485f-8fb0-6065c51c210d CLINVAR:619558 biolink:is_sequence_variant_of HGNC:7127 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ddd8b65f-8358-4683-bf13-a20f6a2166ba CLINVAR:1067956 biolink:associated_with_increased_likelihood_of MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f515b1cd-2ece-427a-b16e-738571b14384 CLINVAR:1067956 biolink:is_sequence_variant_of HGNC:7325 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cdb52c3c-f6be-42be-8e15-b212bc23cb92 CLINVAR:90503 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f244ee2b-6986-4bc9-a62a-318e6c3b2518 CLINVAR:90503 biolink:is_sequence_variant_of HGNC:7325 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c2c5de57-9f11-439a-9f58-32a1b6eed6d1 CLINVAR:142708 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2b66f358-53dc-46a0-ad59-2960f07139c1 CLINVAR:142708 biolink:is_sequence_variant_of HGNC:7325 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 90946c69-2dcd-4a1b-9848-7e3ebbfa37cc CLINVAR:90880 biolink:causes MONDO:0007356 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ff17368c-3e02-4722-870e-4fe9976c140c CLINVAR:90880 biolink:is_sequence_variant_of HGNC:7325 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fdb86e27-45d0-4ed0-a6e9-9f9fe6f6730c CLINVAR:91246 biolink:causes MONDO:0007356 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5f9ed594-4449-4d5b-8c4c-0a4520a8076b CLINVAR:91246 biolink:is_sequence_variant_of HGNC:7325 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ee9b2746-c00a-4c1a-a3a5-7de275f9a288 CLINVAR:246389 biolink:causes MONDO:0007356 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9f1b5771-65df-41a1-a412-2bbbcc728399 CLINVAR:246389 biolink:is_sequence_variant_of HGNC:7325 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e4b3e38e-28d8-4867-b536-43c03b9a36d2 CLINVAR:89573 biolink:genetically_associated_with MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9ffddab4-98be-478d-bbe1-451d45d271c2 CLINVAR:89573 biolink:is_sequence_variant_of HGNC:7329 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ed4db466-0b6a-44ad-923a-b00024496d28 CLINVAR:455128 biolink:associated_with_increased_likelihood_of MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 045d0e1e-9687-49c4-9a8f-ec1370b63c04 CLINVAR:455128 biolink:is_sequence_variant_of HGNC:7329 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 528a9a10-a0d9-4fd1-9ba8-5a1210abb938 CLINVAR:140774 biolink:associated_with_increased_likelihood_of MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 714e2252-f743-4ea2-8d97-b4b881b9960c CLINVAR:140774 biolink:is_sequence_variant_of HGNC:7329 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 13fa9986-d5df-44c3-a369-4885bd5c1b46 CLINVAR:216294 biolink:associated_with_increased_likelihood_of MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 774a6b2d-89dc-4dc3-93e0-e75833073b56 CLINVAR:216294 biolink:is_sequence_variant_of HGNC:7329 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6de490be-a07d-4579-88d1-ea6564e49bb3 CLINVAR:162508 biolink:associated_with_increased_likelihood_of MONDO:0013699 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7220ec57-f0a2-4e7f-9eda-b7974721cf21 CLINVAR:162508 biolink:is_sequence_variant_of HGNC:9122 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e81f768f-d675-4773-ba45-518cb6cdd4e8 CLINVAR:91361 biolink:genetically_associated_with MONDO:0013699 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7b172b81-f0a6-47fa-b910-a58cb89a3a65 CLINVAR:91361 biolink:is_sequence_variant_of HGNC:9122 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 77c76e05-7069-4c62-bc9e-027c82af9383 CLINVAR:91313 biolink:genetically_associated_with MONDO:0013699 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a83ced10-cc50-4800-9552-1e2c02e72bd8 CLINVAR:91313 biolink:is_sequence_variant_of HGNC:9122 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 33643592-ced5-47a9-bb9f-d36c6f74ebcb CLINVAR:439243 biolink:associated_with_increased_likelihood_of MONDO:0013699 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen dabd8280-61d8-414d-acbe-19679e72ea62 CLINVAR:439243 biolink:is_sequence_variant_of HGNC:9122 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e84ddd62-e1f9-42b9-ac63-fba64f9275f6 CLINVAR:480313 biolink:causes MONDO:0013699 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 31808595-833e-4bfa-8173-b1e61dcb8f34 CLINVAR:480313 biolink:is_sequence_variant_of HGNC:9122 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 678694cf-6de2-49a9-b31b-7c6dd7277a55 CLINVAR:2673296 biolink:causes MONDO:0007356 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 961c635b-ebd4-4383-848f-0d6f2cd45904 CLINVAR:2673296 biolink:is_sequence_variant_of HGNC:7325 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e8cad5e4-25dd-439f-bd52-c091d1c978f8 CLINVAR:2673426 biolink:associated_with_increased_likelihood_of MONDO:0007356 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1040d2af-5b06-439a-aa6a-ff0cde4b02e0 CLINVAR:2673426 biolink:is_sequence_variant_of HGNC:7325 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c557d69d-9cd7-49d4-87f3-5053500e3c1e CLINVAR:811810 biolink:genetically_associated_with MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ebf3b744-60fa-4022-95d7-ab20da495431 CLINVAR:811810 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a7942d93-6b27-4de0-9670-efb9056ef9d7 CLINVAR:627180 biolink:causes MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 13da0128-bffd-4ed3-a9d8-0d97002be58f CLINVAR:627180 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dafc0c59-cc9b-4850-978c-f77dafd12b6f CAID:CA2580612120 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0ad19a30-d4f8-47b7-bba9-83310f8011bb CAID:CA2580612120 biolink:is_sequence_variant_of HGNC:25719 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a7820e2a-ddfe-4d7e-94ae-1d92880aee2d CLINVAR:2084589 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5c9b8173-aa9d-4abf-a69e-0259c4b4dd2f CLINVAR:2084589 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2d2aef48-1915-4b17-89ac-db5b87a0a9c0 CLINVAR:972755 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 46428711-19e2-4957-a307-0ea40878d35f CLINVAR:972755 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dfb04297-2259-47f8-a68e-7662f96e4bc0 CAID:CA386965420 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 98000c79-c7db-4675-a3ff-e9877de0b285 CAID:CA386965420 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 94cf9600-1356-422b-8649-0e3d11557a6f CAID:CA386965487 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9e70048d-278a-4f82-957d-8a48314d1a8f CAID:CA386965487 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0f6bea83-6c4f-4842-866f-3be3129740a8 CAID:CA386965729 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen fb1c2c27-9b61-4c1b-ad4a-93fbbf34b2fb CAID:CA386965729 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7081182f-eef8-4ea4-b769-fd518db681b2 CAID:CA386966305 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 82f8b0d4-a886-44c4-9cca-bf42ae45c9e9 CAID:CA386966305 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f3ae11f2-a3cb-4a7e-a586-603fb314caa8 CAID:CA386966297 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9ce2d388-d28f-44e3-8f9c-6b647798e5d4 CAID:CA386966297 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 28b223bf-28df-44ac-a656-0fc9ad413450 CLINVAR:1304284 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ac7bad30-5685-442c-bb02-549693439362 CLINVAR:1304284 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e6c7ded7-4098-4d4c-b07a-158c2efb4c6d CAID:CA399806749 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2173b3fa-d0cd-4a78-af7a-c52dc7106635 CAID:CA399806749 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1c3efe35-bbdc-433f-88e0-92fd0e5613c1 CLINVAR:3391415 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 92a38254-a63c-477d-a251-5a4f00ccf43d CLINVAR:3391415 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3eaa96a0-06a0-4b3e-a60e-c0863e6a99c5 CAID:CA399805683 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2a9259ff-2af3-450d-b45b-8d104d8a9300 CAID:CA399805683 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1c2a71b3-8e22-4111-a920-fa07aed45bdd CLINVAR:91386 biolink:associated_with_increased_likelihood_of MONDO:0013699 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4c0ea781-b4f1-4dd5-9d95-ff58c97621eb CLINVAR:91386 biolink:is_sequence_variant_of HGNC:9122 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 05675930-4642-40f4-a8df-bd1b8fa06831 CLINVAR:872112 biolink:genetically_associated_with MONDO:0007113 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b93632c6-1a4b-480c-95d1-91c573e64522 CLINVAR:872112 biolink:is_sequence_variant_of HGNC:12496 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2f0e812c-4b95-4ba8-abdc-50eee9f16e04 CLINVAR:156623 biolink:genetically_associated_with MONDO:0007113 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 76af4768-c6e7-4a60-9b09-d1d60e1e2c92 CLINVAR:156623 biolink:is_sequence_variant_of HGNC:12496 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0bf5ff97-f146-4afb-adc2-0cd693f35a4f CAID:CA2849481719 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fec17255-561b-431a-b7c8-2fe81545afaf CAID:CA2849481719 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3a970541-beb5-4bdb-81fc-0641d29244f7 CAID:CA386966185 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 468d3365-8c43-477d-8f6c-cdbef8ac10f8 CAID:CA386966185 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1ed3046c-f92a-4047-a391-eddb8eec9f42 CAID:CA386960147 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5236db6e-83ee-450a-9fef-33e76c56fd53 CAID:CA386960147 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ab7ed1b0-c430-4a01-b5dd-03bd9a76c359 CAID:CA409105364 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c3ce4f81-aad9-44ae-b9fe-3e078d4fb9fc CAID:CA409105364 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dc53943a-f068-480a-b270-a1e25debb5a6 CAID:CA409108770 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2bae6ebc-201e-41ba-a0eb-bea9aabd4ff1 CAID:CA409108770 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c465208e-6ddc-46fd-8fcf-426a8fdf1a25 CAID:CA409108445 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5c6ae02c-4afa-4358-b42f-2d46ac9e1d7c CAID:CA409108445 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5bb9b048-32da-4804-b976-b6f3956ce048 CAID:CA386960129 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a01afa0e-c30e-4f27-8281-c632bb43fc5f CAID:CA386960129 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 29cfe14b-b405-46bc-a2cf-44727e501990 CAID:CA386960156 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8fe4d60f-7f21-4a5c-b1fb-1d4e7967d53c CAID:CA386960156 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 25687634-2ce2-4fc6-bafb-26bac30da5ef CLINVAR:387822 biolink:genetically_associated_with MONDO:0012996 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e866a870-13ad-4c61-97ac-814763df865a CLINVAR:387822 biolink:is_sequence_variant_of HGNC:4175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c7ee458d-5e9b-4c6f-a78e-b5428c80f422 CLINVAR:853965 biolink:genetically_associated_with MONDO:0012996 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen bb6324af-b833-490b-a8bc-4c95bfd45fea CLINVAR:853965 biolink:is_sequence_variant_of HGNC:4175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 24653a01-c276-410b-b972-5c1748dab517 CLINVAR:891607 biolink:genetically_associated_with MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a424e5aa-7ef6-4da8-be01-7e630af3bd58 CLINVAR:891607 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c97f80ed-713e-48ee-8f82-918b356cd5ee CLINVAR:205566 biolink:genetically_associated_with MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 853844a8-4d12-457f-b705-2dd435a44def CLINVAR:205566 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1abd897a-02cf-463c-8abd-a20b877b46b9 CLINVAR:328349 biolink:genetically_associated_with MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f2f5c400-1954-42f4-af71-bd1cd29f45c5 CLINVAR:328349 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 537a28b1-d757-48a8-8508-a33cb121b3bd CLINVAR:2145645 biolink:genetically_associated_with MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9d94f0d1-344e-478b-9dd7-e9275324b654 CLINVAR:2145645 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cc52ec42-29d2-4448-a8e3-294b3469418d CLINVAR:1552732 biolink:genetically_associated_with MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 27eab5c1-e4ed-4a46-ad4f-da82c5361ed2 CLINVAR:1552732 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a264f1d2-6c90-414f-b64b-2d39c4e49a5e CLINVAR:439742 biolink:genetically_associated_with MONDO:0011132 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ecab4bcb-18bb-4bec-9a5f-1d76388405b7 CLINVAR:439742 biolink:is_sequence_variant_of HGNC:12765 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2c7f3e28-130b-490b-b494-49306bb115e5 CLINVAR:946936 biolink:genetically_associated_with MONDO:0011132 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f97dfd01-a2c7-4c76-b6e8-590ac4913c39 CLINVAR:946936 biolink:is_sequence_variant_of HGNC:12765 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c28067a7-d437-40fa-aab6-558bc80941cb CLINVAR:143556 biolink:causes MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f0adb36e-6bb2-4fd7-b1df-d4dafe4d519b CLINVAR:143556 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 39808fe1-5674-4f93-9f40-d7a87a45b0d2 CLINVAR:1684314 biolink:genetically_associated_with MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen becf0c6d-f93a-44b7-bb7f-dd832b4ecafb CLINVAR:1684314 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 98b6be80-421a-4775-90a6-c0bdb6dc33df CAID:CA913184734 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d3208f31-956f-4604-b62c-a2e7a6d3e0cb CAID:CA913184734 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 60be043e-7822-43c8-8ddc-516c16156913 CAID:CA658795239 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a9975520-842d-4b8d-93ec-bba3a5068b0c CAID:CA658795239 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b7883ed9-8387-4988-b900-def4e5432197 CLINVAR:554983 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ef5fcdbf-e2a0-4abf-ba7e-688b6d53262f CLINVAR:554983 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 429686a3-7828-4ba1-9f1c-837cf15fd7f2 CLINVAR:849313 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ad50c197-b8fd-4cd3-a1b3-c4042e6edc90 CLINVAR:849313 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e01b298c-9d4d-43b8-ac7f-2cd816420a9f CLINVAR:3020821 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 310aee39-9568-458e-9d0f-7280310ea7fd CLINVAR:3020821 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d7b3bb51-27a8-4911-8965-c812d37779c7 CLINVAR:1401156 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 40dc9418-9ef8-4fbe-8862-49f78ce58a83 CLINVAR:1401156 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 35647840-f50b-4340-861b-95ac34aa08ae CLINVAR:2753273 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f6657707-f4fa-4b3b-8b3c-56a4ec00ef61 CLINVAR:2753273 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a3fd9fbb-fe0a-4238-a0be-74a06159b3f6 CLINVAR:2905469 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9a35136f-922c-4855-a10b-57327f21ade1 CLINVAR:2905469 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5cfe12d0-a12c-4248-9be9-ccd11479a9a8 CAID:CA410202475 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 328a84e6-f857-44de-8fcb-b6d3f3d46b17 CAID:CA410202475 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 84574ce7-1da8-444c-a92d-546d45640f37 CLINVAR:944219 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5de22884-808c-4406-94ad-5f68527a503e CLINVAR:944219 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ebbbef12-920f-4ae7-b732-68c518acafb6 CLINVAR:2732592 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 538d69c1-d4d2-4e02-872d-bac004423e2a CLINVAR:2732592 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c07b0453-0492-40ac-916b-fa9d935934b9 CLINVAR:1945937 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0dceb41e-f69e-4554-9297-20f8fe9bf4f0 CLINVAR:1945937 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6fecd5d5-2f93-47d6-b15b-7a771d9dda16 CLINVAR:2757681 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 51de2c29-521e-4b21-a0e4-8a066e95b083 CLINVAR:2757681 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3814f689-8d01-4761-8de4-af1024aa6113 CLINVAR:2883235 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ab9a8858-dc9e-45c4-87f7-9f8fb6b7fb58 CLINVAR:2883235 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1d9c721c-40c4-4e96-b565-9183fb2ab810 CLINVAR:2692676 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a4048305-0693-47a8-9e2c-4f4f60b2a6b4 CLINVAR:2692676 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0b5baa59-c0b7-4e3a-8ab7-92b7f3a6cf21 CLINVAR:2834717 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 19366f58-4692-4763-8d6a-d09595bf8916 CLINVAR:2834717 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 424dce83-8703-4510-a542-c2677817ee0b CLINVAR:2730661 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 888160ac-abea-497d-8a20-b7109a6e3b51 CLINVAR:2730661 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1a30050b-f280-4a41-b7e9-1433b28360b9 CLINVAR:2859737 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen cdc4e2af-63b9-4dca-9aa8-45f1ba750aa2 CLINVAR:2859737 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 80c218cd-58a9-40d2-be97-21adbcb46deb CLINVAR:1898434 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d181b02e-dd8d-44a5-af7e-c8c4deea3757 CLINVAR:1898434 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 599dd496-7996-450b-b40c-37dcf11ea5dc CLINVAR:1482816 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 56025c15-fe5a-4a1c-8e16-e9195498df4d CLINVAR:1482816 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5611919f-82e7-4be6-b8e6-734e82ac2eea CLINVAR:1022622 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ef49bea5-2e0b-4b21-b657-323c08ea8d0e CLINVAR:1022622 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c6286d6a-dd06-4b07-96e2-824ea31dceb4 CLINVAR:2678498 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b8dfbe16-7c44-4ab1-9b99-d4f4593c338c CLINVAR:2678498 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 499876d7-5d1a-46b6-ac9c-ac45f3d8ffa0 CLINVAR:836080 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 976c3651-468a-41b2-80d0-abab24aeef58 CLINVAR:836080 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 97898589-d753-487c-b166-b6758f099fb5 CLINVAR:2663436 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c3018ec4-0109-4410-8ee7-b05a31df69c1 CLINVAR:2663436 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dc69c318-e8d7-419c-a59b-7adc6220c36b CLINVAR:2990567 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 643a6fe4-e250-48fc-91c1-bd764528d086 CLINVAR:2990567 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 28853723-6f6f-467d-9ace-bf245d49b8e4 CLINVAR:2959673 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1837ab03-4d4b-429d-8a29-e23c4513c805 CLINVAR:2959673 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1306a8e3-2032-409b-ae67-7b48b3468ba1 CLINVAR:2754122 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1d5df501-4d85-405c-b49e-9aeac45ae826 CLINVAR:2754122 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c880e3f2-0e64-4690-af7a-e79d8181020f CLINVAR:1602756 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e3b330d9-85a0-4cfc-9870-07be3f721786 CLINVAR:1602756 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b1c02828-6c2e-4010-bdfa-a9a777407e68 CLINVAR:339846 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 32399b3c-1413-4084-82a9-7bb03f0939ee CLINVAR:339846 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bb7e3c41-deac-4fff-af32-b8b906593622 CLINVAR:2803152 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 55297122-2c82-4f62-b6d1-d271acebac1a CLINVAR:2803152 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 47924f2e-afaf-4af9-8744-ea9a67ed3afb CLINVAR:1989558 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c6a0af44-9028-4535-b846-bc25ffff090c CLINVAR:1989558 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9ba2502e-41ce-40c5-85d7-197677e15ffa CLINVAR:2000813 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen eb21396b-e058-46a2-b17f-ff5046faca6f CLINVAR:2000813 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 59121681-c965-4ff8-8d83-a55845701fe2 CLINVAR:1978596 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c6026150-02e1-4443-8e4a-121ccd6498ac CLINVAR:1978596 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 496b26b8-8b0b-468d-9153-d935658ea06a CLINVAR:937462 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1fa85810-4271-4c9a-b958-4975c4675993 CLINVAR:937462 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen af41fd7a-86a4-440a-b951-a92295428ef5 CLINVAR:1523457 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7e511c36-6301-467a-a72a-73329986d810 CLINVAR:1523457 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c47e6941-f79f-40d0-964f-1428293f30b4 CLINVAR:942222 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b1d4809e-1f24-47d6-b916-a5b0b53696f9 CLINVAR:942222 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a223e865-e844-4cff-8949-2565158392f6 CLINVAR:1397177 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0abe5972-b021-40da-b83b-bdfdf90c33c2 CLINVAR:1397177 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0049df61-d828-4ff1-b7c8-d405a3c86521 CLINVAR:863315 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d5548c4a-c6aa-4c4d-ac43-8ff8a187fe6c CLINVAR:863315 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1cb45313-b0ea-4790-9924-229cf001525b CLINVAR:845799 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2d4e486c-75c4-4b90-a944-901ad1e9cea0 CLINVAR:845799 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9b016774-27d6-4fb9-b65a-865e0b22c01e CLINVAR:960548 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 09aaab55-a0fb-476f-af38-fca9be88069b CLINVAR:960548 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2b973abb-4edc-4df2-a2a8-1edfe01fb0a3 CLINVAR:339820 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0306bb18-cf0d-4bdc-87e5-fe16144f50b0 CLINVAR:339820 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7d3e2e78-bb7c-4e6e-afa1-9de2cf33729b CLINVAR:3061340 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen aa9801ad-4306-448e-a2ee-70bf32e73608 CLINVAR:3061340 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7cbf0116-35da-41f2-806e-6b6e185895a2 CLINVAR:1438523 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 076f3456-e906-48a2-a90c-8053a477c47a CLINVAR:1438523 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d92c47fd-bf31-49e0-aebf-259461d9a0ba CLINVAR:1507190 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0ec3fc7f-af0e-4450-a024-f0da26ddb862 CLINVAR:1507190 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen be06585a-7110-4af3-af82-edf5189184b5 CLINVAR:972242 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen bc5bf7bc-f287-4bba-85d8-0a2ca5035c7b CLINVAR:972242 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 11ab4a95-8e9a-4e0b-8436-bc5d7c5183f0 CLINVAR:1509041 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2f7c1990-9360-4437-99fb-a82cfa47901b CLINVAR:1509041 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4a950ba4-add3-471b-ad77-aea46381fce6 CLINVAR:1010723 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 57b45bdc-be97-4c69-bbb0-e54dde22342f CLINVAR:1010723 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c849cfbb-d934-4fd9-9001-c4480c0ad8ff CLINVAR:1479428 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e5f2d3dd-3bfc-44d5-909b-9c7c8f846dff CLINVAR:1479428 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2e4afbb4-dfd9-43e8-88d0-6c49527316e3 CLINVAR:2692670 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d9b99211-a286-4ca0-86c0-90416bba4742 CLINVAR:2692670 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 106f8ac6-537e-44d0-83f7-bf942a61930e CLINVAR:2695395 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 88843a92-71f1-4461-ac3c-9490f9229f57 CLINVAR:2695395 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9ce2f5de-233b-417f-93d5-66f6cf9abfa1 CAID:CA410202720 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 59517427-c344-4d5b-9435-cbf784d594fd CAID:CA410202720 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c80acecb-071a-4852-ba61-decc204f3ca0 CLINVAR:3367215 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f5e03a97-9a3f-461b-a213-fabebbd25bde CLINVAR:3367215 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 138b5c03-0244-436c-aa9a-2eb3e01c7a78 CLINVAR:1422929 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e0762485-4f69-48ae-86f4-f747e468ae3b CLINVAR:1422929 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bea9daa6-c300-471a-adbe-2bdd63c6d46e CLINVAR:1432362 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen cee8cebc-eaaa-4dee-8fdb-4a6a116e553a CLINVAR:1432362 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f52ee007-bfa8-4893-b51b-7cbecb627b83 CLINVAR:1481257 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a9150d63-4386-4d18-b383-c150a755f41d CLINVAR:1481257 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2a00acf7-4378-43d2-a302-8e65d268a55c CLINVAR:1061802 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8776aa6f-f946-4b11-82fc-eb8dc5be6f12 CLINVAR:1061802 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1c0929db-1ab0-4305-ba13-c79df5b7598d CLINVAR:1474271 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 028bb8db-f668-49f8-bb40-30ee93f67705 CLINVAR:1474271 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aec40712-4451-4811-8e85-19943f3abe99 CLINVAR:1063502 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 357d7d3b-01e0-4a82-8b06-56000e7debdd CLINVAR:1063502 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7cad29e1-0333-43e4-90b4-870c7034e7e5 CLINVAR:1371567 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 50645f67-a26f-4994-b858-881e6b05f244 CLINVAR:1371567 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dc19cc7f-4074-47b1-83e3-e948c8eeead7 CLINVAR:1417387 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4bf9f333-281b-42da-9d68-152a9b57f6ee CLINVAR:1417387 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9de95a97-c708-4861-8e35-f3ba3349bc73 CLINVAR:934627 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5f74766d-5b82-4ab2-9d4b-0ede31315014 CLINVAR:934627 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d772f638-b91b-4456-800f-d77a1a4856db CLINVAR:1430436 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 999a58ea-0de1-44a8-bf2e-163656a8e485 CLINVAR:1430436 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bf8be37b-91a9-46c5-9e9d-5d8c806168ae CLINVAR:934336 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 277350cf-6d37-48bb-9ad6-eaaedc30ea6a CLINVAR:934336 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 60f0add3-32f3-4295-baf5-8fe2c930ad57 CLINVAR:858272 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6865bbac-73d2-4b5b-ae99-fbcee7b41992 CLINVAR:858272 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 030a0ca3-2f00-44e2-8199-b0e69bfb1d99 CLINVAR:2814451 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d647a321-055c-41e2-b4b7-e3310600e611 CLINVAR:2814451 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5eba4ff3-2139-4624-b0e6-123dd260a864 CLINVAR:2879097 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4bd4e221-5b1a-40f1-b56d-9b3ef1dcaeea CLINVAR:2879097 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b680a526-da58-4b21-9d57-fdf29831137d CLINVAR:2752334 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7df8ef9b-2e06-4e68-adf0-f0f073e63665 CLINVAR:2752334 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 531865b4-330e-41d9-9b45-82bbaf6b399f CLINVAR:1394837 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 93da8da7-500c-478d-849f-36ef941d7951 CLINVAR:1394837 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 08a35c91-e3fe-4ae4-af8c-37483d5eeaca CLINVAR:2751155 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 91371d1e-9655-4728-93a2-ebeaf9563c7d CLINVAR:2751155 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 138fbbe0-3033-476d-8bd6-bedbe4915c0d CAID:CA410203630 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 56a9b628-a177-419a-a961-63afd55b3902 CAID:CA410203630 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 08d87d84-095d-4e4c-8639-c2153f1e2a9d CLINVAR:2834488 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen eb59ab3b-c090-414c-938c-b798bb4e9b15 CLINVAR:2834488 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 938b4192-6224-4bf3-96ac-371f5bedd6f0 CLINVAR:339845 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2cb752f8-394a-4d17-a347-9cbff7d6139e CLINVAR:339845 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 737cf20d-8351-47c9-9a81-5a47024a5428 CLINVAR:1471561 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 24a9e907-0f84-4814-b3d3-17c0e864e45f CLINVAR:1471561 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2942678f-f051-4f17-bc43-abc06ad68d30 CLINVAR:1437603 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1e8396aa-8201-45d9-9456-7bdb7e033a7b CLINVAR:1437603 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 408bd7c4-e5d5-4d6d-b853-331644b7f6b0 CLINVAR:1701950 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 861e8c4f-fd9e-4d98-9f27-7827b3a36a7b CLINVAR:1701950 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0779cceb-8ffc-4a16-b4c6-a63fab98446f CLINVAR:1467839 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b79f9afb-d266-477e-9ff6-a4ac1cc38188 CLINVAR:1467839 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 16d99e99-08d0-480c-ba76-971a809dc759 CLINVAR:1346637 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 19dbc965-660c-4c7d-991e-e10ab299f1a3 CLINVAR:1346637 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3d2bc132-f163-4ae6-a1d9-df68bb0d6d93 CLINVAR:1369516 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2ca4cadf-dbaf-45e7-9424-bcf8e956f593 CLINVAR:1369516 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c969c0e5-236e-491c-aec5-2ba97bad3228 CLINVAR:1411636 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 69bb23e7-dcea-432c-8776-c9112805df33 CLINVAR:1411636 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b1ad5896-b887-46e1-84a2-34c8b4fa5dcb CLINVAR:988848 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6cff62f9-cd2c-4411-979b-c6c6895ce7ce CLINVAR:988848 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0f5ec22a-1884-4d2c-ae50-26205f249529 CLINVAR:936839 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f6a9ba10-411e-4720-b42e-acac4406a93a CLINVAR:936839 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8789b76b-598d-48d4-89a5-2bf010ccb329 CLINVAR:967968 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b03ad900-4948-4ae2-beb3-3270bb29bf3a CLINVAR:967968 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7b053a92-2020-41d0-a061-94b500354b8a CLINVAR:1528554 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c6efaded-ad6e-454c-af41-e7df650653fa CLINVAR:1528554 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6277930b-749d-45fc-ac1c-edeb58f45441 CLINVAR:1459284 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b830e81c-fd8c-45d5-81b2-5fbca859b6a9 CLINVAR:1459284 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3b8641d5-8535-4e28-9a59-70250b56e110 CLINVAR:646645 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0cbcce2b-c0ba-4cee-8f9b-7a0bb9e81b71 CLINVAR:646645 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9c45e482-d109-448b-bfad-8f4e78215484 CLINVAR:2013398 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a4513ef7-1ed5-4b58-948e-96a9cf8e1e54 CLINVAR:2013398 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fb810c94-2de4-4044-a253-6eabf5003332 CLINVAR:1988566 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f20af990-37dd-4fb6-8f84-cfabd1cf8b63 CLINVAR:1988566 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 04fe2a05-b9b0-488a-bb9e-8927c225c66e CLINVAR:973890 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 67def86b-922c-4530-96a7-302281186905 CLINVAR:973890 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e67b1593-beba-4fdf-add0-074d5db64717 CLINVAR:1718521 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 87020905-3560-4b09-97a7-6bc0332771cf CLINVAR:1718521 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 47efce87-8cc8-4fc2-a25a-11aa37669e3f CLINVAR:1684419 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a723cd12-df81-4652-ac87-4c93697bf972 CLINVAR:1684419 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6b2af0dd-f8a2-40f5-92a8-ad649b83da36 CLINVAR:1684411 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f0f8d5e7-9805-4c79-8bd9-7dcd63f664ce CLINVAR:1684411 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen de5b63bd-ff93-430b-bbfe-d58f7bb2d86b CLINVAR:1516563 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5e5d1723-8354-40a9-aff7-87b39258351c CLINVAR:1516563 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c8fd9ef2-2e7d-475e-8f2a-38cbef8a850a CLINVAR:1493649 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ffbd9617-3625-485c-9ab9-4c9adea33a4c CLINVAR:1493649 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7dfd9250-0310-497b-9deb-3cdc6c519515 CLINVAR:1491218 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a1bd8487-e1f8-45ed-8a65-ae1ed4468ede CLINVAR:1491218 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 798531dc-a247-4727-b89b-59b81f2c9467 CLINVAR:1489490 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6b0b2358-a770-4486-ad3e-9ebe33a249be CLINVAR:1489490 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6396b699-1a5b-4069-8257-ab7d32a50bdf CLINVAR:845679 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 65cc20ec-002a-41ea-b349-bbd32e400614 CLINVAR:845679 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2bf47013-26bf-4354-87f4-c3862a888868 CLINVAR:841418 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d190e32f-a2e7-4e51-b899-378b7d0551db CLINVAR:841418 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 16a82d3b-19ad-45fd-bd16-f57b9e0dd971 CLINVAR:840832 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5924273f-c06e-4968-81a9-2a2274529509 CLINVAR:840832 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cde6ad49-84d7-43ad-9fb5-e598cf7907a0 CLINVAR:664394 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 175f9ee4-c109-48eb-9ea2-3b916fe7535d CLINVAR:664394 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2c0d2918-a346-461f-95f1-c2f727f9c1fe CLINVAR:648542 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d60c68c3-7e85-463d-bd84-7cf3d3808aec CLINVAR:648542 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 121a5ea0-e731-4e2f-9cbc-cb2bbd2e46d2 CLINVAR:1496920 biolink:genetically_associated_with MONDO:0100083 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 532d0a54-73b6-43f1-b4ec-1f28fdb4a172 CLINVAR:1496920 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b979d9f2-40fe-4782-9ef5-6289f6849527 CLINVAR:464011 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a61bc35f-4b2c-49c2-bafc-a1413e319f29 CLINVAR:464011 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5be337a1-42f7-4f96-953a-614e7b199d74 CLINVAR:2001601 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 36b4684d-1be3-4456-89d1-4b8bc79a3ff9 CLINVAR:2001601 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 62f783cd-9476-42e4-971a-3904ca2d8e1d CLINVAR:532668 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1b7b78f2-eb1c-4a7c-b81e-5efaf4ae4615 CLINVAR:532668 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bff38f09-4025-43af-bb56-5a6ddd631f80 CLINVAR:836066 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7570bb0d-8667-4f82-80c0-a582a1b87fb1 CLINVAR:836066 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a689aa6a-8b4b-48f3-b9e9-bddc5e713a1c CLINVAR:663181 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0afa3bb5-100d-47d8-be0a-67651d7be526 CLINVAR:663181 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 120650f8-37f8-41b8-a7fc-b370eebf2941 CLINVAR:663009 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e300ddfa-68fd-4d06-b8a9-26b074c7727d CLINVAR:663009 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d4d61334-bffe-4d00-8f8c-947a201ead38 CLINVAR:658039 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 77cba7b0-a6f7-4b99-b068-491acb0c8f68 CLINVAR:658039 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 464e086b-ac53-4826-a181-b24024e4ebba CLINVAR:657868 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4192d380-0982-4bb2-9d5e-b07730b40b47 CLINVAR:657868 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 222c7c30-343a-49b2-86b1-3e860137de73 CLINVAR:656386 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 255271cc-a0c3-48c8-980e-0a732ad54278 CLINVAR:656386 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c7efde25-2f07-4af8-bce4-895e1c088564 CLINVAR:650331 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 35b19f7e-b0ab-44ed-8e06-bad1197c6b8f CLINVAR:650331 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ba348d75-9938-4fdb-bcfa-8a6a78d83be4 CLINVAR:650005 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c023fadd-7783-4913-bf36-8b1ae53d4943 CLINVAR:650005 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1e533a24-9fcd-442e-a5c0-34e9e2bb94dd CLINVAR:643861 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5c297aaa-0044-4b17-a6fa-2ac305ee0ce7 CLINVAR:643861 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1b09a52c-a953-40f1-b5ff-346f7b311ac4 CLINVAR:641583 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 41065eeb-ee8a-4b5a-9ab9-5711b9b84030 CLINVAR:641583 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9957754f-b86c-4aae-9f98-e8ba82e7a1a5 CLINVAR:639088 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d4c6641f-51ee-42bb-96ff-36a9fd7acbd9 CLINVAR:639088 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ec8c8836-9106-44fa-acc5-a3aa2a45948e CLINVAR:576717 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 647c1ed3-ba7a-45a9-86f8-6cf41def7dd4 CLINVAR:576717 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 47a80e73-ee58-444d-a613-0d2087089426 CLINVAR:573788 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5cbe95ba-a426-46dc-9622-d686473f09a6 CLINVAR:573788 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4979d093-b43b-4984-a497-606e9c969bed CLINVAR:573555 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 98354ef1-e9a3-4381-9e98-265b32bd5191 CLINVAR:573555 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6eb2e990-13e0-4279-94a4-7f73c9c6db74 CLINVAR:572890 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8962dd23-0d80-42b2-9148-5f64bad284dd CLINVAR:572890 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 82e79cee-a60d-4eca-a3f6-2e665cb55071 CLINVAR:570149 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8e14aabf-1877-4222-93d6-661d5d2f1f7e CLINVAR:570149 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 424d5705-9913-4dfa-8287-5b6a490d9678 CLINVAR:532660 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 187e42f3-b1ec-4399-ae04-83ee15f961ed CLINVAR:532660 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7dbcaa27-e543-401c-ab11-883fe3443107 CLINVAR:532657 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 33914d17-3940-41a0-9f90-d11f643ab292 CLINVAR:532657 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 04c5566e-375a-44e2-aab9-282d34807c96 CLINVAR:532656 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b9d8bf6d-bd3c-4634-ba5f-c0a1a260af2f CLINVAR:532656 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5473f6f6-49a9-4ad6-beaa-e703a7db5d45 CLINVAR:1678200 biolink:genetically_associated_with MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 73919461-da44-42fd-b328-7cc5340c64f9 CLINVAR:1678200 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b8d8ab15-a69e-4e42-bf19-25ee60d6357f CLINVAR:626913 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 29c2186f-934f-4d85-b398-48f999919289 CLINVAR:626913 biolink:is_sequence_variant_of HGNC:17271 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2e7a8419-ce40-4448-a46b-ccf41c22565d CLINVAR:626911 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4c3a55b6-f3f6-4493-8193-83384a11584f CLINVAR:626911 biolink:is_sequence_variant_of HGNC:17271 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b4e15c53-bfcc-4e81-8325-567db3ca0335 CLINVAR:2146646 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 38776be6-682f-4744-b5e5-fb66841b4d32 CLINVAR:2146646 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fd1924c2-261d-4839-97cb-0529c8b8b5bf CLINVAR:1959 biolink:causes MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a32be4ba-5caa-445e-9919-3d9b23a76c6f CLINVAR:1959 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d0e38970-1d3e-48c1-af44-f721cdfe61f3 CLINVAR:177778 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 51eb773d-9d70-4923-a26f-f020d5d89051 CLINVAR:177778 biolink:is_sequence_variant_of HGNC:7989 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7a8599b0-c7d7-48df-80f3-f7d3b002d2fa CLINVAR:1003866 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5a93a3f1-a78d-42f1-a8d6-9c2e34527e57 CLINVAR:1003866 biolink:is_sequence_variant_of HGNC:7989 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9c1475b0-20a6-4adc-8710-694fdd8af6a5 CLINVAR:13903 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen adb9e929-7ca2-4635-b03a-e68877ed8a86 CLINVAR:13903 biolink:is_sequence_variant_of HGNC:7989 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 281d1a81-7441-4b42-9bd1-821723ce9e98 CLINVAR:1070042 biolink:causes MONDO:0018997 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f179af8a-6071-40d3-aa4d-55bd93bd019b CLINVAR:1070042 biolink:is_sequence_variant_of HGNC:7989 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 12a6caf7-7dad-441b-91ee-ec259a239ea4 CLINVAR:424299 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5bc07254-943b-40b5-9adc-39a8ec188100 CLINVAR:424299 biolink:is_sequence_variant_of HGNC:7989 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cb084ff1-dc50-43c4-9db9-fdefbdd1372a CLINVAR:561350 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2f174c5c-0623-4f33-8d1d-b4259285b9f7 CLINVAR:561350 biolink:is_sequence_variant_of HGNC:7989 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4756f30b-56b2-4f6b-8427-5ddeb011375d CLINVAR:200177 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 63c39504-4379-4cd2-bb26-df3155081ccc CLINVAR:200177 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 964f9f84-0786-4565-ba0c-74504d5f1f49 CLINVAR:617874 biolink:genetically_associated_with MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ef37cfee-53db-4f7a-b1f1-600fd5b5957a CLINVAR:617874 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 66a5dc3a-57b2-4734-ac15-1efc8b67202f CLINVAR:549173 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3ae0fe4c-3387-4d47-999c-9104b1f26486 CLINVAR:549173 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cf6cddca-7588-4140-a4fb-68045549fe80 CLINVAR:42339 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 50bf7fa2-6619-467a-9a50-3efc229a026f CLINVAR:42339 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3f5c188b-a342-414b-a77e-a3e8e543cbd3 CLINVAR:549019 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b8500a99-9f8a-47de-b834-5821d6a2f10c CLINVAR:549019 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 50ddd766-7dfd-47ee-b503-579c673a0b22 CLINVAR:549180 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ab0005ba-9464-414d-b4c1-b8e5f39c5f3c CLINVAR:549180 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 63672491-7ee0-4d34-ae64-4e2f48dbd2a1 CLINVAR:495598 biolink:genetically_associated_with MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 757fe2bd-a178-4fe2-a7e6-86b139a36628 CLINVAR:495598 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a1b675b2-95bd-4eaf-b076-f2dd991d68db CLINVAR:200022 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7e605089-9d2c-4ea1-956e-80ff38034847 CLINVAR:200022 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fbe365e7-3457-48dd-bd2a-d36e189f8288 CLINVAR:495558 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 95b0b663-86b5-439d-9d6e-e351834348ef CLINVAR:495558 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 831e85db-e03a-44fd-b5e3-e47440ab6ea7 CLINVAR:36034 biolink:genetically_associated_with MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b22125e6-c5a9-48f5-b174-3070c3802490 CLINVAR:36034 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 094257a5-6f68-445b-b6de-2a512844b25e CLINVAR:164809 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen bd61b96f-e8e9-42db-9cb3-6887c52e405b CLINVAR:164809 biolink:is_sequence_variant_of HGNC:7989 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4f6ffcf8-c56d-4a99-966e-bd99744fe1a8 CLINVAR:179025 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 58e8242b-0e67-4043-80b7-1d718d7c7fa8 CLINVAR:179025 biolink:is_sequence_variant_of HGNC:7989 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 20d24cf3-8d0e-4f9a-97f1-248e651c230b CLINVAR:209089 biolink:associated_with_increased_likelihood_of MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f742be8e-1efc-4ac8-9209-c748517c0628 CLINVAR:209089 biolink:is_sequence_variant_of HGNC:6742 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1ed300ec-530f-48de-8aa3-10141ec59434 CLINVAR:2078744 biolink:associated_with_increased_likelihood_of MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c5877da9-cc43-49e1-a1c5-297416af3593 CLINVAR:2078744 biolink:is_sequence_variant_of HGNC:6742 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 42ffd2ab-a5ee-483c-8586-01cd2e470191 CLINVAR:195024 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5b6c7df8-cdaf-491b-a27a-ab28e579c8d9 CLINVAR:195024 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 75869bd1-2878-4b37-a3fa-c2f774fe0647 CAID:CA414444915 biolink:causes MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 938ce8df-4afb-4c4a-8c10-afcab886c0c0 CAID:CA414444915 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1f435552-eb10-419f-ac79-6d43397b6e13 CAID:CA414444922 biolink:associated_with_increased_likelihood_of MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 66755325-7e4a-43a4-b22b-47019b7b7bf5 CAID:CA414444922 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a78fcec1-849d-4bc3-a6a2-1a7c0ca526d7 CLINVAR:2138734 biolink:associated_with_increased_likelihood_of MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8d08d034-a4eb-4b59-9190-380d8f6f9943 CLINVAR:2138734 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 83d8d857-74d0-4d86-9b1e-6a870ffbce65 CLINVAR:10602 biolink:causes MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6b8919a7-1c30-4fdd-a840-aeb5e9761e2f CLINVAR:10602 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e44286d6-9cbb-4cd0-964f-564d05925ec4 CLINVAR:627177 biolink:associated_with_increased_likelihood_of MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7451699f-e505-4f2c-80df-ec9f82175a04 CLINVAR:627177 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2682ba82-d731-4231-9f88-9cf0b4c030b7 CAID:CA410780392 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f8a56a3c-bad3-4526-a36f-49774a29f86a CAID:CA410780392 biolink:is_sequence_variant_of HGNC:6742 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d60337c5-158a-41d1-89b7-0d0a66e93c16 CLINVAR:705680 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 56a9a0d0-f394-4c53-9814-177299fa61ed CLINVAR:705680 biolink:is_sequence_variant_of HGNC:6742 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6e88e9f3-4058-4297-a4e0-6e546a5f7062 CLINVAR:973830 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a1a4c402-ef9c-4fb6-a051-8a6319ef3be0 CLINVAR:973830 biolink:is_sequence_variant_of HGNC:6742 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f7831859-87d1-4d37-8c87-7ee9a92a9ba1 CLINVAR:898727 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8fff5a70-4e61-4c54-af5b-b71a759ff25c CLINVAR:898727 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b41c2652-00b2-4732-8e03-f4dbd040aff4 CLINVAR:523986 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 63f90391-2144-4807-8402-5dc03be38e2e CLINVAR:523986 biolink:is_sequence_variant_of HGNC:6742 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 575600c0-60ee-4103-b6fe-1f45bf9928d5 CLINVAR:2634012 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5adeafbf-078d-4d4f-bcae-117b6e3abae5 CLINVAR:2634012 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 63562790-1943-48af-834a-9328b14b641a CLINVAR:2757091 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen eb32bcda-7f1b-4010-ac1f-0fbd20874195 CLINVAR:2757091 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1f172162-28e8-4d45-9ee6-6a5126726aa8 CLINVAR:2839740 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 58f8e619-7119-4be4-92ea-839e614fc76d CLINVAR:2839740 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3d08b095-df2c-4f41-9305-c9fc2e7148c6 CLINVAR:2750881 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen fd291054-0864-4949-8c0d-2be611a57f90 CLINVAR:2750881 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bd22a5f1-7d5a-4a70-8616-e3b6a379b26b CLINVAR:2112037 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 661f0d3c-77a8-48cf-bf37-5fc62970e9b2 CLINVAR:2112037 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 41c44f14-6466-4e80-bb73-835b001d42d1 CLINVAR:522800 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e9336daa-1511-4b0b-8b4f-d2ba5769e731 CLINVAR:522800 biolink:is_sequence_variant_of HGNC:6742 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8478a14c-327b-4ec7-aaeb-390580da52c3 CLINVAR:522164 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 207a1a9c-3518-468e-98b6-41addd10b9dc CLINVAR:522164 biolink:is_sequence_variant_of HGNC:6742 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0fa29c9d-50f6-430c-96a1-39cf4b5c898b CLINVAR:561716 biolink:associated_with_increased_likelihood_of MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5b40a868-ebd1-4c85-a0b6-d9b252cadc0b CLINVAR:561716 biolink:is_sequence_variant_of HGNC:6742 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7a5dbcac-a115-4993-ad30-74dc2cc9da27 CLINVAR:1066305 biolink:associated_with_increased_likelihood_of MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 210415d4-0a3b-4af6-bc3e-175555e02c84 CLINVAR:1066305 biolink:is_sequence_variant_of HGNC:6742 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d4be38be-532c-46a2-88fa-d117ad0ab41c CLINVAR:599033 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2138a876-903f-42e2-a7a4-a42cc1f34f78 CLINVAR:599033 biolink:is_sequence_variant_of HGNC:6742 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 485074d4-1dd1-4ffd-9e8e-936955de9230 CLINVAR:561683 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b1986162-fc65-4e03-8a82-edf58830dab8 CLINVAR:561683 biolink:is_sequence_variant_of HGNC:6742 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9c8c3e0e-5744-4016-98ce-1ae1e4a1d1e2 CLINVAR:522799 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f8e912d4-1f2e-49cd-b685-f688f5cb169b CLINVAR:522799 biolink:is_sequence_variant_of HGNC:6742 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ecfc9aa3-bcb7-4863-a5f5-bd02bd77a6c7 CLINVAR:451722 biolink:associated_with_increased_likelihood_of MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b5d3a253-fbd6-490b-bcaa-164e2ead2b4e CLINVAR:451722 biolink:is_sequence_variant_of HGNC:6742 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4eba14e5-0d50-4a67-bb5c-3a810df758fe CLINVAR:3383924 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen fbab535e-312d-42e3-b2c1-c9559fe12583 CLINVAR:3383924 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ec3695df-8cb7-41ee-97f0-a1cf3e3bc372 CAID:CA367400483 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen cc90dd03-8f9c-4896-8992-b77ac58ce392 CAID:CA367400483 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 06163835-08b5-4565-ac99-70230c9b9a0b CAID:CA367400486 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0461646b-13f7-46ba-b1d8-fdea18face91 CAID:CA367400486 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7927470f-2ad0-4fcd-86e7-94a7bee5d769 CLINVAR:658067 biolink:associated_with_increased_likelihood_of MONDO:0018214 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 34d3f831-6380-43ca-a283-682e87974df5 CLINVAR:658067 biolink:is_sequence_variant_of HGNC:10585 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7c77b93e-016a-4523-bd96-e849063ad731 CLINVAR:374331 biolink:associated_with_increased_likelihood_of MONDO:0018214 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen db3f9bdf-df7b-417d-868b-468fcd96d365 CLINVAR:374331 biolink:is_sequence_variant_of HGNC:10585 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2df1513d-84f7-4cd6-b0e4-4e00a9df5547 CLINVAR:372977 biolink:genetically_associated_with MONDO:0018214 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen cb99d29c-652a-4912-8837-8da0ec85080d CLINVAR:372977 biolink:is_sequence_variant_of HGNC:10585 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0e157d33-0f10-405b-8ef9-d271687ebbd5 CLINVAR:12893 biolink:causes MONDO:0000700 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen eeb1c1a3-1da5-4450-b7e1-1a84933ce611 CLINVAR:12893 biolink:is_sequence_variant_of HGNC:10585 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 33f51d57-87d9-4327-b5c8-e621bc0db842 CLINVAR:393000 biolink:genetically_associated_with MONDO:0100038 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 896af104-3f1c-4ae3-ba32-0adcc935fac0 CLINVAR:393000 biolink:is_sequence_variant_of HGNC:10585 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b8150e90-5e9f-41f8-b54a-9f51e6935ea1 CLINVAR:130208 biolink:genetically_associated_with MONDO:0018214 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6b958e78-4544-4caf-b233-87d0bfdbc155 CLINVAR:130208 biolink:is_sequence_variant_of HGNC:10585 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 844c9548-0fd7-4273-81f8-b5db15e30a21 CAID:CA2695216038 biolink:causes MONDO:0015628 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0586f628-770b-4eca-ba08-3f5fbdf6e80a CAID:CA2695216038 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4a1962f9-8234-4e7f-a129-c2b9eabb4f38 CAID:CA383520062 biolink:associated_with_increased_likelihood_of MONDO:0015631 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5ac3a295-e20e-4714-8d5b-075f3d7e098e CAID:CA383520062 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 48248a0b-d78f-4e67-bb80-b525ce35de0c CLINVAR:425863 biolink:associated_with_increased_likelihood_of MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 435d485b-39a2-4052-b726-f91bf6d34f04 CLINVAR:425863 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fb4686ae-3178-4af0-9f75-208b682855ca CLINVAR:425885 biolink:associated_with_increased_likelihood_of MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9bdee6df-45cd-4280-8a71-2c418a03fd5f CLINVAR:425885 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a4a45129-2e61-497e-859c-b7a5867db2dc CLINVAR:425886 biolink:associated_with_increased_likelihood_of MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen bc60d183-595e-4d5c-8080-1a8e3a7c6134 CLINVAR:425886 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 182b369e-c830-4fcd-beaf-742ceb8e94d2 CLINVAR:425887 biolink:associated_with_increased_likelihood_of MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d89538aa-cbbb-4195-ac09-07605f07abc1 CLINVAR:425887 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3bb5b7a2-ac94-47fa-8528-c0d9cb4be7ee CLINVAR:425884 biolink:associated_with_increased_likelihood_of MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e4709e4f-a3e7-4741-b34e-406b013f79d3 CLINVAR:425884 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1bb11f7a-5750-4284-a288-0c2328f3ce57 CLINVAR:425883 biolink:associated_with_increased_likelihood_of MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a8bda062-237d-434f-98de-10b1e032b68c CLINVAR:425883 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a584efce-a935-454f-bdae-839f75870d38 CLINVAR:425888 biolink:causes MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d62b3e8f-2610-4941-a4ff-c0d7b7a5dc92 CLINVAR:425888 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 41eaa6ee-9bf8-4e54-83d7-2d27f8424e02 CLINVAR:425889 biolink:genetically_associated_with MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e3735898-c6c0-4731-85ea-f26f7c258c63 CLINVAR:425889 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ccd4a5b1-fa82-49ad-98ee-f18fc0003508 CLINVAR:323556 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 71666269-f102-4d51-bcc9-620f335fa494 CLINVAR:323556 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 293f61e4-acd5-4b54-be11-29c38a4367f9 CLINVAR:888902 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0d5bdcd0-014e-49a0-965d-4d9943d1361c CLINVAR:888902 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 45864eee-421c-490f-b777-8bdab41af4c1 CLINVAR:1698808 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f13e3132-abc1-4a83-9548-ced08dbf1110 CLINVAR:1698808 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2ce26a3a-f848-4b5a-bed2-4fde1cd0b39d CLINVAR:477043 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen cfce1c27-c8fb-4cff-a32e-3b24986ec297 CLINVAR:477043 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 634040be-e7b5-4958-b609-3729096f618d CLINVAR:254293 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2847d77a-d29a-42a7-84a3-07a3c3d97165 CLINVAR:254293 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1fed8a27-7b24-4f5b-8bcd-d5476a9c778e CLINVAR:664199 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ade2b592-51e2-4c69-b55a-c04affb3ade1 CLINVAR:664199 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 541d3360-51fd-4a2b-9974-6275c28abc39 CLINVAR:339882 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3b0ea5de-96fe-49a5-9135-2b23891e1181 CLINVAR:339882 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 88ad1fec-2560-4165-ad37-e94bc1cbb2d5 CLINVAR:339813 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9c5cbbd3-0231-4099-b704-794bf88ace00 CLINVAR:339813 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 50955c4e-b8e3-487c-bb20-448dc4edd89e CLINVAR:897695 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1b32e067-5f9f-4a45-b49c-7d5209d7b799 CLINVAR:897695 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 92961d66-d670-4060-af77-91e7b7241ea2 CLINVAR:1040892 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7298f0ca-3f46-46d7-964d-d2f013ce68d6 CLINVAR:1040892 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b7a4f118-7b27-4b7c-abf6-5c4faa61225b CLINVAR:2728565 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e2e20345-4131-45aa-9c0b-a94dc90d93e3 CLINVAR:2728565 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 476e0070-0704-46c2-9743-d1432e24b1c5 CLINVAR:964321 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9e5e3abd-a7d8-4cc8-9e0a-23341ee3cf42 CLINVAR:964321 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 820b69c7-037e-4146-beb5-56789b457eb4 CLINVAR:2419700 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c7ad7916-0849-425b-9907-87d8a5f0f398 CLINVAR:2419700 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 407e590b-e98a-43a9-aeda-be51934f0f0d CLINVAR:857804 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 45c79ef4-e09b-4e7d-9b59-cf233c6b7735 CLINVAR:857804 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 06e6a447-eba7-4990-8039-3afdd9b469e0 CLINVAR:970259 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1bee95ef-fb72-4b00-afd3-df03aeef4835 CLINVAR:970259 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 00faa527-70c4-42da-8f2e-7b86b77a9314 CLINVAR:988867 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 692233e3-7687-451e-a312-e5614a94e41f CLINVAR:988867 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f8bc43b5-3b14-4098-94e6-2dbdbf215ca9 CLINVAR:840865 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 49144c1a-a746-4478-a7d4-219e5e99d833 CLINVAR:840865 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4ec186b6-df17-4fd6-a2fc-e7ade61ffa73 CLINVAR:409817 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 58a4dcd3-86f7-4526-b2f6-db3b00468d46 CLINVAR:409817 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d28e4089-1c69-4c98-a152-1d4f5fe5ff75 CLINVAR:2728942 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 79c6405b-bf9b-41c2-a90c-0478f84eda0e CLINVAR:2728942 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c1cab5c3-6b19-4115-b793-d06da936952c CLINVAR:2678491 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f1625285-1f5c-4b27-927e-4addf2fae80a CLINVAR:2678491 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bd01750c-a289-4de0-9136-ea9257335237 CLINVAR:856836 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 148b9e1a-5d4e-45e2-b7d5-37453b7e5d3d CLINVAR:856836 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 25446b48-92b1-4fa9-9e5e-2e8735333296 CLINVAR:1037898 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 699abb26-a839-4a54-8f2b-95fc02534470 CLINVAR:1037898 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 60194ed0-a512-4271-9910-7882f280efae CLINVAR:1447557 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 64df44b6-06f6-486e-b0dd-e7771d65830b CLINVAR:1447557 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f9b33527-8c07-4bfd-a45a-b57c2f00cb68 CLINVAR:2154408 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5169cb7d-ab8d-4c27-aae3-b27bba59e087 CLINVAR:2154408 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 236a19bb-375e-4aa5-a6db-5495ad7421d7 CLINVAR:463998 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ec360ed5-8946-475e-a850-4953dfb409e0 CLINVAR:463998 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cc40ab5c-3246-49e0-bc25-c28dda42df95 CLINVAR:409821 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c1ea1aec-4cd0-48cb-af38-be5d117c9fed CLINVAR:409821 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3838bd63-934f-475f-8515-b85bfd61e03f CLINVAR:2045031 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen db99163b-05de-468c-b515-4b8cd33cbc57 CLINVAR:2045031 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 74419bec-3338-4d76-bb31-6a3e18bfa81d CLINVAR:409807 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2c721c77-ff63-4256-ab00-a54c56de0f67 CLINVAR:409807 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 242bca8a-80a6-41b9-ac59-2feeabbe1811 CLINVAR:1346335 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b34596ef-cc5a-4bb4-aef2-7a44daeaad08 CLINVAR:1346335 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 47847bbd-7e95-4392-a829-900adc396f3b CLINVAR:1410456 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 51cb5e07-24de-463c-9e96-b1f9032ad69d CLINVAR:1410456 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 22c731ab-ee41-4178-b29c-06c2e28d7deb CLINVAR:2116456 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f2c7767a-f33d-4398-9250-50f9bacd781e CLINVAR:2116456 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cba60d4e-bf68-4be6-954e-c6bea5dc2f63 CLINVAR:2003023 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7a2a1c66-3cfa-4a78-a54d-57b26f40dd51 CLINVAR:2003023 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b15129bc-636d-453d-801e-093f439372b6 CLINVAR:339880 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6badc899-ba3f-4824-bb63-95ef8e24ecd4 CLINVAR:339880 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 087d93c8-8ebf-4db4-99d5-01b5515c57af CLINVAR:895826 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 27d939b1-b9f5-44ec-8cba-a8350279eda9 CLINVAR:895826 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 40201d4a-c994-414d-bc13-96075dc466b2 CLINVAR:339847 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c13dc616-1903-4716-83f0-bd2ea4a6b091 CLINVAR:339847 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8f0e87b5-349d-4528-b024-d876079728d3 CLINVAR:898860 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 523f43ce-04d1-4248-99b3-2b9a6fa12bf6 CLINVAR:898860 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ef657c91-e3f0-476c-b8ac-d563dbad2e5f CLINVAR:339834 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d566e3c4-3992-4431-aa26-05a47ea9eca3 CLINVAR:339834 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d878963a-473f-45ba-a802-a54660d86e74 CLINVAR:896042 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4aa0e3a5-d6e2-4486-b00c-d78c9ddc6f1f CLINVAR:896042 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e6fbd731-cef6-4cb7-a11b-2e6e3096338b CLINVAR:339814 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 00302bf8-32b5-4378-aea0-ae8c902319cb CLINVAR:339814 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 25c49b33-1733-4cc4-8db9-799712ca5790 CLINVAR:897697 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c091d57e-5020-45b3-a736-a9afcfb4b97c CLINVAR:897697 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aa072b85-c981-4a18-bbad-9fc2bd82b4db CLINVAR:897570 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 51f6648b-3cec-434d-a640-c454b5eac754 CLINVAR:897570 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 57a29ce1-f7fc-441d-9132-71e68a12b9a6 CLINVAR:897093 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d5d28e44-184d-4581-b5a4-682014085d34 CLINVAR:897093 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e75c8f6c-2235-48f6-90e7-0baec50897c6 CLINVAR:339861 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 56181454-2fb3-4add-b9b2-0661d07c8568 CLINVAR:339861 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 075081b5-793a-4171-bd43-726dc4ceca3b CLINVAR:965008 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c7cca1d0-bac8-43ec-ba70-b41a9a98682f CLINVAR:965008 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d9d40740-a5b0-433a-b2ac-951be5ee9cb9 CLINVAR:1022964 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 788f6ce1-ab30-4955-94db-a6c900d3ccca CLINVAR:1022964 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3ad6ce98-bf5f-46f5-83e1-0567b4f491fb CLINVAR:934759 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e6265570-b7f6-44b6-a552-ed4f7e54bfb6 CLINVAR:934759 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cda57b8c-4421-42e1-b421-30f012853539 CLINVAR:417952 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4c54b508-da76-442b-9593-a866f1ed1cc6 CLINVAR:417952 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7fad811f-eb78-466c-9297-c2feb95f95e0 CLINVAR:316212 biolink:genetically_associated_with MONDO:0012996 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 538ef813-379c-4a11-8200-18a966595ba8 CLINVAR:316212 biolink:is_sequence_variant_of HGNC:4175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a4fb07fb-fa4e-427d-b2ca-656781f9ae36 CLINVAR:449185 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c2ac0eb9-771f-45cc-a36d-908021b4e4bd CLINVAR:449185 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0de6c8a1-8134-44a7-848f-d9e0fac70ae1 CLINVAR:588254 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3b40532d-1c7d-4da6-bb13-6c19775e3005 CLINVAR:588254 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ef9bd42d-04cc-4e60-934c-472eb88db7d6 CLINVAR:2181706 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 88fa396f-c346-4384-94ac-4cf044aadf9a CLINVAR:2181706 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f376fa14-d5f9-4f58-8da0-44396fe398ea CLINVAR:1562414 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0567f860-6168-4d3c-a1f1-509ad391e147 CLINVAR:1562414 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eeb8dd39-b59e-40f5-ad97-e8175c8c503c CLINVAR:511341 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 02b7a50c-7ac6-4570-881a-7106be2e322d CLINVAR:511341 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ebe86b0c-1fd6-45f9-9cb0-be6cebced3d2 CLINVAR:917570 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 70fa21dc-dda3-491d-8479-0a6137fce739 CLINVAR:917570 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aacdeebd-a8e2-465f-b836-a05ce76d8091 CLINVAR:1676188 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 544d6d1b-a067-457b-8883-8d6f763a3da4 CLINVAR:1676188 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 69041532-b841-47e5-9a8f-10404cedc637 CLINVAR:9679 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ba93a303-e69b-4ad6-896d-7c58c1094276 CLINVAR:9679 biolink:is_sequence_variant_of HGNC:7427 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 05d9ec44-4a14-4f6f-a90a-2c1f1227d158 CLINVAR:9681 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b12a170b-f78c-44bd-9043-fe123c52291f CLINVAR:9681 biolink:is_sequence_variant_of HGNC:7427 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3c1805f6-9f98-42c4-8b40-0d1a80b2f3a2 CLINVAR:382591 biolink:genetically_associated_with MONDO:0012589 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 57105787-12bf-4cc1-a93f-e5f30cb652a3 CLINVAR:382591 biolink:is_sequence_variant_of HGNC:11634 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b3535dc2-ee85-4fdd-aaa7-db6a1ab2258d CLINVAR:9662 biolink:causes MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ec373678-ad21-4e43-af7d-4c161cd67ac0 CLINVAR:9662 biolink:is_sequence_variant_of HGNC:7421 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cceee954-2f85-4c72-9cdd-d080ccdc8a19 CLINVAR:995600 biolink:associated_with_increased_likelihood_of MONDO:0008535 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 986a1e74-9807-422e-8ddb-613aca0f1a12 CLINVAR:995600 biolink:is_sequence_variant_of HGNC:3349 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ae133754-4041-418c-b685-1948a18eb6f5 CAID:CA16020765 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 644e0580-a791-4006-a349-1da55ac6f9ce CAID:CA16020765 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9a5d5631-0967-4a18-8497-c43bee705412 CLINVAR:102683 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen dd5f5f0b-5dbf-4ae1-872f-510ffb6b73ac CLINVAR:102683 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7eb5d3eb-a90e-415d-9e5f-bc9bf8384caf CLINVAR:102682 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 039a35df-5765-4ee9-96ba-e36e3da9202b CLINVAR:102682 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 62179520-c204-4eb4-b17c-df3deb80cfce CLINVAR:102636 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9a18bcea-1b55-4513-bf98-436fbe71c354 CLINVAR:102636 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 436747cc-d92f-4482-a020-ceb240366ad7 CLINVAR:102637 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen df51ef65-24f6-4589-a041-caead14a0a8d CLINVAR:102637 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6735fad0-5e8b-4e51-85c0-f5380d53a187 CAID:CA16020793 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 37050067-b6a7-4759-a6bb-86ba94c5242f CAID:CA16020793 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1592f9c4-df54-4439-9a33-95503fd9492b CAID:CA386296891 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen beb72f36-d022-4ff2-8f99-982a74b12e8e CAID:CA386296891 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 10ab2465-f8b0-4c6e-b14a-3850ceecea04 CLINVAR:102695 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 092e2f5c-e052-4829-a269-ed93e7de443c CLINVAR:102695 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f9f68c46-a310-420d-97ea-2ad801c244c3 CLINVAR:134528 biolink:causes MONDO:0012163 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c9885d93-246a-4885-9472-990ff251c34b CLINVAR:134528 biolink:is_sequence_variant_of HGNC:6024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 602e3a1c-bd39-4eb9-bb0b-4bd06141f1ce CLINVAR:9658 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 48d4d0e9-441b-4473-bc68-3591308d635b CLINVAR:9658 biolink:is_sequence_variant_of HGNC:7421 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b5382726-fd59-4dd4-9d76-6e8f3af7cdda CLINVAR:9665 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen eff3fb65-ae10-4f68-a271-423d2c5cb729 CLINVAR:9665 biolink:is_sequence_variant_of HGNC:7419 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5bbfd621-9ff9-47a7-8665-721949910f5b CLINVAR:430687 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 11264b7a-0436-4aca-a97d-b8188fbe1826 CLINVAR:430687 biolink:is_sequence_variant_of HGNC:7491 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 34c40f7e-b6ab-45a3-9811-963cbd526b12 CLINVAR:9599 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 04c1fa77-f55f-41c4-a7b6-adb9e7471656 CLINVAR:9587 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 75902243-873e-4a23-96e9-b0595b22e585 CLINVAR:9587 biolink:is_sequence_variant_of HGNC:7491 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 10872386-5f98-4701-ac95-3366d1d1e8c8 CLINVAR:9595 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0a4b5e01-6821-4b00-bf7b-b058b5d7c181 CLINVAR:9595 biolink:is_sequence_variant_of HGNC:7490 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 545617e2-a804-4910-9a52-1e19af244728 CLINVAR:689861 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c709f20d-4677-402c-be74-04c3ce8d5b69 CLINVAR:689861 biolink:is_sequence_variant_of HGNC:7490 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 26668f75-da4f-4185-a428-0ad32a976667 CLINVAR:689895 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 332757a8-df39-4cc8-a4c5-5ea87b5d0190 CLINVAR:689895 biolink:is_sequence_variant_of HGNC:7495 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9ee98c6a-c193-46fc-a641-8285880dbcb0 CLINVAR:692361 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 65baa47f-1d8f-4072-8cc5-73d50763eb44 CLINVAR:692361 biolink:is_sequence_variant_of HGNC:7455 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 96d2ad77-0c23-4009-ac37-9a6cbabec6e2 CLINVAR:812543 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9d404168-7f44-4c4e-88f5-c58bacea8e8d CLINVAR:812543 biolink:is_sequence_variant_of HGNC:7493 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6f498a00-3369-4e43-8594-a23beac35be8 CLINVAR:9216 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9e97103a-623d-434e-8f9c-f0b232194436 CLINVAR:9216 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4518d2b6-ac49-4fab-a6f6-061ad29672f9 CLINVAR:2580875 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0b5555b8-7729-42e2-ae7c-04cd247739c3 CLINVAR:2580875 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0aec4b51-3160-4f61-a7cb-1350baa18350 CLINVAR:558316 biolink:associated_with_increased_likelihood_of MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1a74f154-aef8-4150-852e-41ead369f21d CLINVAR:558316 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 40d66465-d4db-4ff4-8a9f-d38ed0595d7c CLINVAR:444626 biolink:genetically_associated_with MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen dfad9d24-f443-4d31-8724-a6d90be15905 CLINVAR:444626 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3d6d3955-0a06-449e-b660-3ae45cd2b175 CLINVAR:92644 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b0caf0c0-b8bc-41d2-8cd5-160d29fea2e2 CLINVAR:92644 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 999011ba-6502-4244-8ed3-8fb2a2306f4d CAID:CA2573332224 biolink:associated_with_increased_likelihood_of MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6e0bc3fb-f945-490a-9329-91051cb354f7 CAID:CA2573332224 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 240517e2-7188-42f8-a470-1b574c7ba1e6 CLINVAR:2704858 biolink:associated_with_increased_likelihood_of MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d0078da8-ddcf-48d8-bcfe-73e2755e49f4 CLINVAR:2704858 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2533d720-fae1-4878-bd73-30a4be397325 CLINVAR:1323099 biolink:associated_with_increased_likelihood_of MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6f037032-c78f-4903-814a-36afec3ecfde CLINVAR:1323099 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f6e2f427-5a48-43eb-a765-2d04811b1c1f CLINVAR:92636 biolink:associated_with_increased_likelihood_of MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen cd22f2d4-91a5-4e35-b09c-7bc18be25c39 CLINVAR:92636 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a825e79a-ea18-4d11-978d-8868ea888a8b CLINVAR:1323098 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f9965b87-4e99-4eac-a9d2-1e4a71a8f0a2 CLINVAR:1323098 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 951954d9-6100-438c-b410-7059731fe508 CLINVAR:638074 biolink:associated_with_increased_likelihood_of MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9672604c-b965-4f9e-8cec-3b6d0ee34c24 CLINVAR:638074 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b2a4bac3-ff5c-43ba-b806-fd4f26d1c55f CLINVAR:828094 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b240e9e9-2e08-4004-a6a0-07f0167ff7cd CLINVAR:828094 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c9d32b84-bb85-4c04-8d83-d767cde4cacc CLINVAR:193061 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 87783c79-f314-4b7f-b784-e7e4efbfa219 CLINVAR:193061 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 50c9cbc6-9fa4-44e1-a4d6-8af0b77f4506 CLINVAR:222994 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1dc02509-0baf-4086-9832-83913b68d065 CLINVAR:222994 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 48ad5946-26b7-4ffe-9d4a-105e322dc5f0 CLINVAR:92643 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 59ba66da-e3ee-4299-980a-92959ce2c39e CLINVAR:92643 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 32335ede-84e6-4bcb-977e-8feda88dcf5d CLINVAR:557616 biolink:genetically_associated_with MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 00ee50f8-e3fa-4fe5-a88f-9df40022605b CLINVAR:557616 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b3acf166-27d1-44f2-be8c-7d3b70a39d2f CLINVAR:1406350 biolink:genetically_associated_with MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 78a8841f-d0b5-47cb-830c-d5f0eb190cef CLINVAR:1406350 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d46bc558-9052-4e99-af71-89466fea9cda CLINVAR:1968567 biolink:genetically_associated_with MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7d9bc18e-9832-4dcb-8b88-3aa10a1530db CLINVAR:1968567 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 41489fe5-fcc1-483d-8d2b-458d291262eb CLINVAR:905912 biolink:genetically_associated_with MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a0842e15-bd01-4d58-8aae-211be9352ca5 CLINVAR:905912 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0daffbe2-b28c-4eec-b894-fee80fa4d883 CLINVAR:1309246 biolink:associated_with_increased_likelihood_of MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e552108d-e6dd-4f5c-b268-90bf540edb41 CLINVAR:1309246 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f62147de-0fd5-42a8-8118-d7574bce76ff CLINVAR:967585 biolink:genetically_associated_with MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2af933e4-bba3-41de-82da-2318102db8d8 CLINVAR:967585 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7221bf16-98bd-4aa8-b9b5-2ca5073cc690 CLINVAR:1384361 biolink:genetically_associated_with MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 890cd008-949c-4292-ac3d-4322430d8cd7 CLINVAR:1384361 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e567697e-76b1-46cd-8e64-0e0116cc622b CLINVAR:1458769 biolink:associated_with_increased_likelihood_of MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5cbbd5a1-93d9-4d62-9dac-205e7c86ef32 CLINVAR:1458769 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 57f94efe-9569-4ca3-8601-29c42a73feec CLINVAR:557260 biolink:associated_with_increased_likelihood_of MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ccf03b5d-3298-4c53-aaee-d40b5c1c79d5 CLINVAR:557260 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0acb94bf-96b4-4410-a5e4-d02c20ff03ef CLINVAR:1455223 biolink:associated_with_increased_likelihood_of MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8f935a58-5217-40c3-9868-da86a472d54d CLINVAR:1455223 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d8839ece-ffed-43be-83c9-91f7ba02b1f9 CLINVAR:11920 biolink:associated_with_increased_likelihood_of MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8c0ba9a7-95b9-4cfd-b5ee-a91a0399fac8 CLINVAR:11920 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 88a99517-8b40-44ae-9f17-119b7d3054cc CLINVAR:551675 biolink:associated_with_increased_likelihood_of MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e6bceaf8-29ca-453f-b17b-b4cb859199f6 CLINVAR:551675 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 22a31b88-73dc-4308-976d-00a039f162ff CLINVAR:2198440 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5541422b-7275-4ee5-b522-aa24dbe38afc CLINVAR:2198440 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 724561ae-7a88-4e9b-a53f-df97b4293749 CLINVAR:557205 biolink:associated_with_increased_likelihood_of MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c853cc46-70f0-49a9-b5e7-0085b2a49310 CLINVAR:557205 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2958aea4-d5ae-4e96-a752-d6a7b83c7709 CLINVAR:183099 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ee9c40a4-9649-486c-a846-6b8d8fc31b36 CLINVAR:183099 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8cce8b0c-3a8a-488d-8f68-a393857b39eb CLINVAR:450684 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e5a9e1c7-7afd-4669-b16a-6c8fe059dca6 CLINVAR:450684 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 06c56db4-75df-41ab-84c4-636ec20fc1c7 CLINVAR:251487 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 66221f4b-bdd5-4e8d-94bd-ab6cd6dc49ac CLINVAR:251487 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 52026173-1b86-40d4-8e50-21b74ce3a58e CLINVAR:18286 biolink:associated_with_increased_likelihood_of MONDO:0100084 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 52aea0af-291c-45a5-9d4e-21cc40a0b606 CLINVAR:18286 biolink:is_sequence_variant_of HGNC:129 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7453b2cf-3104-4ffb-afbf-81d59a282ac3 CLINVAR:464113 biolink:associated_with_increased_likelihood_of MONDO:0100084 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1feceb67-03e4-4689-8af4-99405b2e9fdd CLINVAR:464113 biolink:is_sequence_variant_of HGNC:129 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b9d62dcb-da00-4f2e-ac96-687fab653851 CLINVAR:1303122 biolink:associated_with_increased_likelihood_of MONDO:0100084 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen dcd3c7c9-41c6-4b52-9828-6bf0ed24eddc CLINVAR:1303122 biolink:is_sequence_variant_of HGNC:129 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 08f03c73-e8b0-438c-853c-297c9f48017b CAID:CA345144077 biolink:causes MONDO:0100084 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9b3d47c3-6e76-4f8d-a517-e0adda204bfb CAID:CA345144077 biolink:is_sequence_variant_of HGNC:129 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8e449dfc-b4fe-48c1-8210-98044f6d60e0 CLINVAR:835545 biolink:genetically_associated_with MONDO:0100084 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3d80df58-0621-4192-9bc1-e56bb9c5a466 CLINVAR:835545 biolink:is_sequence_variant_of HGNC:129 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e30e1015-7ffd-4815-989c-97c01b323ceb CLINVAR:1051987 biolink:genetically_associated_with MONDO:0100084 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 11b514b2-421b-4eb4-9240-a2db1d521ec2 CLINVAR:1051987 biolink:is_sequence_variant_of HGNC:129 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4f734249-6506-4fac-8a0d-5472106c1967 CLINVAR:127188 biolink:associated_with_increased_likelihood_of MONDO:0100084 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 734b476d-a45f-4d65-b9d6-ae70dd2f7041 CLINVAR:127188 biolink:is_sequence_variant_of HGNC:129 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 10e2d46c-ce56-47eb-9a04-a65298abd251 CLINVAR:1034583 biolink:genetically_associated_with MONDO:0100084 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1820455b-0834-4ca3-b006-0c2c9f5cfde4 CLINVAR:1034583 biolink:is_sequence_variant_of HGNC:129 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen be48fb3e-4fb6-403c-9ea8-dd25eb2cf972 CLINVAR:3391411 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f959a6a2-8711-4292-b577-82c4ccb3f7dd CLINVAR:3391411 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 611d0fab-40f4-4f6f-bae9-662f43e6e24d CAID:CA8603165 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3fe13317-6422-4400-898d-513e233c63e8 CAID:CA8603165 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c8a32816-d10c-4e5d-aaaa-196906c4e125 CAID:CA399804710 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5133f0f0-90f1-4e04-8402-223b466dc4b6 CAID:CA399804710 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3af6a86e-8c8c-48ad-93c5-2af55236788a CAID:CA500262444 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen cf1561e7-1836-4ca8-b2b8-6535c8ff5105 CAID:CA500262444 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 56222e2e-c9b8-4086-8f8d-aa53dc24b9d4 CLINVAR:9734 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 58acd77f-b5ee-43e9-8880-ed9e57c8e6cd CLINVAR:9734 biolink:is_sequence_variant_of HGNC:7455 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8c9fdc95-27da-4ad0-b77b-8c536ef05c12 CLINVAR:9735 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 177c4faf-5bc6-44d7-a8b9-e09fe8f1fefc CLINVAR:9735 biolink:is_sequence_variant_of HGNC:7455 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 040ac57c-0ddb-43ae-95ab-6a669b1f0985 CLINVAR:155880 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ae8763a3-b219-4591-b743-a00dd8d1749f CLINVAR:155880 biolink:is_sequence_variant_of HGNC:7455 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 14dbc834-bf02-43b3-b4a2-fc00e106b822 CLINVAR:800504 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 32f89ba3-0ef9-4892-9525-ae8803f78b8f CLINVAR:800504 biolink:is_sequence_variant_of HGNC:7455 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f0276944-bd29-4f90-824c-3bfdd3b513f0 CLINVAR:155887 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f610b94e-c03b-462b-9ba2-e49c48f71bed CLINVAR:155887 biolink:is_sequence_variant_of HGNC:7458 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c630c311-109b-4399-87c1-2717f42ef6e1 CLINVAR:9706 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9f477d7f-712d-42c6-8c58-5cc784afd5a1 CLINVAR:9706 biolink:is_sequence_variant_of HGNC:7460 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e4b499d4-12e1-404c-92e8-81339fe78b6b CLINVAR:9660 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 607f17ea-6621-47a6-b652-596cb401c9ee CLINVAR:9660 biolink:is_sequence_variant_of HGNC:7501 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 01cc4869-1e7c-43d0-a486-2c9752239119 CLINVAR:3774391 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 82d497ac-0767-4354-9bef-5537282953c1 CLINVAR:3774391 biolink:is_sequence_variant_of HGNC:7455 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5900acdb-1724-4f06-b872-8ffc343dbb0e CLINVAR:9671 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 67256600-6560-48e2-b5aa-b98145a0e88f CLINVAR:9671 biolink:is_sequence_variant_of HGNC:7419 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1814a007-eae5-4c7f-8a32-01790974252c CLINVAR:9561 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen af694ece-a38b-4bb5-b1ad-530ced68457d CLINVAR:9561 biolink:is_sequence_variant_of HGNC:7498 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen edeb1ee7-2615-4e0e-8cd4-173077896584 CLINVAR:1802530 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8d3fa76b-3825-4706-a957-afcf72c7545c CLINVAR:1802530 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 70a2e482-035b-458c-bafa-ec8e52f80a30 CLINVAR:994542 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen cf8ed650-2cee-4089-98bc-b542c506a975 CLINVAR:994542 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3e5a3579-2cac-450d-becb-aab65f7e94a6 CAID:CA386972790 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6d189179-d697-45a4-b898-bcbfd05c9b23 CAID:CA386972790 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8c425a91-856c-40a4-a02b-041258aa566c CAID:CA386966029 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ba1a0639-015d-44fe-bd0c-d7d5f918158a CAID:CA386966029 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f9528513-3e07-453b-9715-1dde28c6f8bc CAID:CA386966026 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 61d9b74d-1f2a-466e-976f-8d0700952044 CAID:CA386966026 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bb6c7aa5-2921-4f10-ad00-9c196d6d5ee7 CLINVAR:2758582 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8a8eae02-2103-487f-928d-69df2cccc7ad CLINVAR:2758582 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8b495f7d-5881-494c-84b5-c498bd82352a CAID:CA1310372689 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b9e374b6-6ede-406f-8645-0161b7196084 CAID:CA1310372689 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 35539b3e-0aa4-4f89-b959-1f3a94a6391d CLINVAR:1700663 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen dc4e03a4-328e-47ee-a649-4da74d71ad4b CLINVAR:1700663 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 40586e9b-ea9c-4910-bae2-4475d15476d7 CAID:CA409108558 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 05e3bbe1-d5bd-4021-9c1f-cb9252594388 CAID:CA409108558 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 29fac0b6-eb91-4910-9113-92883b50d2e1 CLINVAR:143710 biolink:associated_with_increased_likelihood_of MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 19068193-80eb-4b13-8d99-0933e233eb3f CLINVAR:143710 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 59000ddf-b7c4-4c3f-834a-d334d314b98b CLINVAR:252226 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 73278950-77ef-4ec3-8855-edfe6d48c528 CLINVAR:252226 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2c179c5d-082f-4b9f-952a-6ba6e3d8c97c CLINVAR:252227 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 95e32d57-7cde-4d05-9773-e5fd0071569d CLINVAR:252227 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f9c556c2-2348-4d40-9357-484878dddc1c CLINVAR:251118 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen acd3ac61-9dad-498f-9271-df2135e8a4b3 CLINVAR:251118 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0e04f4ca-e91d-4346-a428-e86cea40e92a CLINVAR:251119 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b745c93d-0f15-4490-a261-de58ae456589 CLINVAR:251119 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e7df2130-993e-4ef8-a9f1-3b3d7009e420 CLINVAR:889190 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 16558465-1750-4f13-b2a0-ebb8476afb98 CLINVAR:889190 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen efa5b022-9f59-4efa-8fd5-bcff1c8b7cdd CLINVAR:920443 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen dfb062eb-f9b9-4eea-8fef-e336b4238e04 CLINVAR:920443 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c9bf1fc9-dfa6-4995-b7a8-d2e6ba2036b4 CLINVAR:251909 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen de686597-e827-4586-8bf7-bf7bee6b85e2 CLINVAR:251909 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2e57c870-2af0-4ac9-adb8-121be885e139 CLINVAR:987818 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a286afc0-75a7-4716-92aa-1f77be1c5f63 CLINVAR:987818 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 087661ad-cdd5-4462-888e-32598b6b0a21 CAID:CA409108532 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3bf53c83-3d5b-4f05-9bd0-182e332c3583 CAID:CA409108532 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e83a21d7-fc7c-49cc-82f1-78de9571f8a2 CAID:CA2573106208 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 03d1827e-08ad-426c-b6ea-306497bc73de CAID:CA2573106208 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 54bb5669-6879-4709-a5da-3d54ed54a596 CAID:CA4239711 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1fb57d26-56af-4ed9-8d95-8a4f1e2e98fa CAID:CA4239711 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bc3c223f-9393-4485-8f47-974fcfa25b25 CAID:CA367400485 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen caef2649-0ae0-450d-8496-065b36a4186d CAID:CA367400485 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7493426c-053a-4ec6-9285-4e8186f36744 CAID:CA367402020 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 336a572d-f943-426b-a01b-44a868c6469a CAID:CA367402020 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8c9f6de0-efe0-4ff8-a81b-dda9ba34fded CAID:CA367403047 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen fbb54b75-3ede-4c9f-a240-d016371ea600 CAID:CA367403047 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 71df2d1d-b93c-4e2d-a59b-49c197b5da4b CAID:CA367403045 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ba85d978-15ef-4650-990a-e80767cb0346 CAID:CA367403045 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 604a381c-6b35-46e2-ac75-79fd4afe4b52 CAID:CA367403035 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 09c17ee0-9fe4-43b6-bf8f-1b4df03406e9 CAID:CA367403035 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9cdfa962-c10f-4042-b030-8aac8d79465c CLINVAR:2500039 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b166715b-7cff-4b5e-897f-6871d7ed7259 CLINVAR:2500039 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4abc8892-10ac-4a29-b882-22830a98d0f2 CAID:CA367403041 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1e644444-38a2-451b-8269-177550e89bf3 CAID:CA367403041 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dabb24cf-8935-45d9-9e2e-ee17bdee1e27 CAID:CA367401329 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e9cac6c0-88e2-41e2-b2aa-dae798700d5f CAID:CA367401329 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a0dd48b4-570b-486c-91d5-29a84174304f CLINVAR:447385 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 25115b99-6466-4833-862c-17840848e56e CLINVAR:447385 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 42826c66-8a1a-4cbe-84f0-832816646f9a CLINVAR:3383915 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2107b1d9-151f-43cc-87e9-9cbf7e38f8d0 CLINVAR:3383915 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 733b0226-a062-4eec-bb61-13a8a3bf8924 CLINVAR:36175 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9e5aee17-c4b5-46bc-b557-f85309d74a41 CLINVAR:36175 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8fec2164-0c99-4836-8447-d978f6914d4b CAID:CA367401225 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 56769baf-df57-4835-a3ee-12934cb7861f CAID:CA367401225 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 88c597c3-63c2-420d-b6c6-d64079987e8c CAID:CA367401223 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e1f1b740-b934-4f59-bbf7-b69f27f757a6 CAID:CA367401223 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 07343914-394c-492c-9573-e881621c065c CAID:CA367401222 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4d5fe987-6aca-402a-be46-ee20ad91e310 CAID:CA367401222 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 84ccb7b0-7300-4d60-8a15-4330582a55a6 CAID:CA367401656 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d364e763-1f0d-481c-a7b7-c212df49bb37 CAID:CA367401656 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0631009d-7982-4bf3-acfa-a8a74ce16fde CAID:CA367401662 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen acb74d87-f2e3-4096-a262-73ef57e5f1fe CAID:CA367401662 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f230bc92-fbb1-4822-8e67-903becfeef39 CAID:CA367399044 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6b4fab05-a140-4e00-bee9-6bfbba351770 CAID:CA367399044 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3dcba2ea-42b8-4ec5-8800-a191dca59b41 CAID:CA367399038 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a5eaf232-f736-471b-9ba9-3f7ac157662f CAID:CA367399038 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e51f40bd-6374-4d91-a79b-9a2779b947f2 CLINVAR:311 biolink:associated_with_increased_likelihood_of MONDO:0015630 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9136c5ee-a042-4808-b872-8beb8ad53071 CLINVAR:311 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5f1bd6bd-6d60-48fa-829b-0349b2138599 CLINVAR:100330 biolink:causes MONDO:0013304 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c22dec30-8df6-4658-860b-d6e1c19b274f CLINVAR:100330 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a35d8ead-74b5-4a2b-890b-58674305c37e CLINVAR:100177 biolink:associated_with_increased_likelihood_of MONDO:0015628 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f42cc0aa-f051-48db-ad1d-ab3d6b7e4530 CLINVAR:100177 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e138dd65-5d0f-403e-89f0-08fb42253514 CLINVAR:100281 biolink:causes MONDO:0015629 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 58fce723-3ad3-44d7-ab10-7692b86871c8 CLINVAR:100281 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 544cdff5-5e96-4edb-9135-4b9e70a7c6af CLINVAR:11500 biolink:causes MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e555d7ae-7ec7-4d2a-b5b3-3494c064779c CLINVAR:11500 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a6310614-d9e6-495a-a079-174717643494 CLINVAR:9572 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a729d35a-c50b-413f-8565-5ec51405c549 CLINVAR:9572 biolink:is_sequence_variant_of HGNC:7481 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f4ffc9a4-d918-4477-b442-c4ffc577e009 CLINVAR:155882 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 903f5aa5-d8ab-4add-8273-b9b6d0ffb963 CLINVAR:155882 biolink:is_sequence_variant_of HGNC:7501 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9e86a458-48b7-481f-8fcc-9956c6dfecb0 CLINVAR:36342 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b28a7a18-c304-45c9-8b69-7a0b0563fa96 CLINVAR:36342 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7e6758d3-d8b0-4025-a3e6-9759ff825100 CLINVAR:9557 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 71d0330c-2373-456d-b348-a92e0feb6b1e CLINVAR:9557 biolink:is_sequence_variant_of HGNC:7501 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d914907f-d729-4bbd-9eeb-f3a114227980 CLINVAR:188785 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 80f00585-aa05-433d-8f65-7326ef6c64c5 CLINVAR:188785 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 00b82399-f55a-4336-b914-391c673562d2 CLINVAR:972798 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen aecc9c76-8283-402b-a254-b3eb3e21ebd6 CLINVAR:972798 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 38c65196-ad1a-4a9e-bf18-718a721e74d8 CLINVAR:3390364 biolink:causes MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 66a5dfab-3592-4a10-b804-8ff04b8ca2c5 CLINVAR:3390364 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3cf66502-efca-4f5c-a425-3b1613339095 CAID:CA414915806 biolink:causes MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen bc2ea9e6-5471-437f-b70f-20a1a53de881 CAID:CA414915806 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e48bdd18-4ced-4407-a305-c560506df410 CAID:CA414916092 biolink:causes MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b50686b8-b36e-4c30-b5d7-d32c3d50bd97 CAID:CA414916092 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7a6de611-d425-418c-bc08-5f927f7dc75d CLINVAR:627143 biolink:associated_with_increased_likelihood_of MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0149506f-4253-424b-91d2-4c86b744777b CLINVAR:627143 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 43ebdb75-9cbc-4b09-a139-55607bf8915c CLINVAR:225114 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 313a4658-060e-47ce-a606-ac0f483e98f6 CLINVAR:225114 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c450f382-7e31-4952-9963-cd0ded86bce7 CAID:CA414917900 biolink:associated_with_increased_likelihood_of MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8ba458ee-5cc0-47e7-a6fe-cfed84b47b15 CAID:CA414917900 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7dd1c509-1dd8-406b-b0ee-b2b7bcd586bc CLINVAR:798429 biolink:genetically_associated_with MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3c807487-b8d9-4cd7-a8ad-fe3d4284e82e CLINVAR:798429 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7218e9b4-9f2d-4e9a-a78d-e8dc891c722b CLINVAR:30005 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 76345b5d-bff7-43be-a206-a62984b711b6 CLINVAR:30005 biolink:is_sequence_variant_of HGNC:7481 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 334de967-daab-42bf-a2c4-2cc350bcb4c5 CLINVAR:586011 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3a6a0292-ceae-44d1-b959-aab040a7b93f CLINVAR:586011 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 590f7da9-55cb-4f2a-b0fa-c3ca947e694b CAID:CA409110117 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4cb4a4eb-77f0-4acc-b09c-3e5b1ab0818b CAID:CA409110117 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 44678550-686d-4c8c-9b83-a98b403bb12e CLINVAR:251736 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9602735c-3474-4b12-aab8-9d9a939c7449 CLINVAR:251736 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen da519dc4-09f9-40d1-b6c8-92b521a982f2 CLINVAR:251479 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3848a2a9-53c3-4f56-a4b9-e991a860ab43 CLINVAR:251479 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ca69c9b3-0ad9-4338-9ec1-58cb2e68f70a CLINVAR:9550 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3b6be8f6-4034-4906-9ddf-0024f2b9afec CLINVAR:9550 biolink:is_sequence_variant_of HGNC:7502 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6c0fe5ff-2563-4cf2-bf96-39c5b706f92d CLINVAR:40158 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6ff6e55c-610b-4ce4-b240-0368ffc7806e CLINVAR:40158 biolink:is_sequence_variant_of HGNC:7419 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 72b63bdb-2229-4fa1-8b59-780a82a85d8b CLINVAR:9568 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c61c8b8c-dea0-42b0-8069-9a0a404f3a87 CLINVAR:9568 biolink:is_sequence_variant_of HGNC:7419 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 136ab630-8a49-4b74-90b2-b5ef50eac9ad CLINVAR:631469 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7b2873fb-209f-42d6-a6c1-3e701ba2a52b CLINVAR:631469 biolink:is_sequence_variant_of HGNC:7419 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 40ab20fe-3d29-465c-8663-a03ed1091a62 CLINVAR:689913 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ab702eda-f9e9-4791-943f-022d1663633d CLINVAR:689913 biolink:is_sequence_variant_of HGNC:7492 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6ff88884-2fcb-43db-8afd-f63651aca10d CLINVAR:692466 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 932694b4-1676-4c6f-9281-afd1027e47b5 CLINVAR:692466 biolink:is_sequence_variant_of HGNC:7456 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 26509029-fbb8-4803-900b-397f767fb3f8 CLINVAR:439962 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e845f6b8-bd42-448b-afbe-9473fda9c5cf CLINVAR:439962 biolink:is_sequence_variant_of HGNC:7456 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8d2c40d0-4cd6-4e02-84c6-2315404152bd CLINVAR:692585 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 671f74ed-5319-41b4-acde-3c028ba6d9af CLINVAR:692585 biolink:is_sequence_variant_of HGNC:7456 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 335cc72c-8997-4d48-9f55-1f295027b2c2 CLINVAR:9656 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c1303ea3-1a98-4fcd-a758-497aa6167348 CLINVAR:9656 biolink:is_sequence_variant_of HGNC:7422 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9231f9ec-11a5-405d-b2d0-23ba5956ab7e CLINVAR:370050 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fa4744d1-48ec-4244-b2a9-ba04549ae33c CLINVAR:370050 biolink:is_sequence_variant_of HGNC:7415 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b6497d12-f2ca-4c9d-9ffd-40242cf60c26 CLINVAR:692961 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5ee4250d-c584-4b1f-b7bd-7d2419fa0d02 CLINVAR:692961 biolink:is_sequence_variant_of HGNC:7456 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 14d4abe8-7251-445f-aa69-9ce3adf89f40 CLINVAR:551295 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d8f5cc2a-0187-4473-983e-79f9d2bc53a0 CLINVAR:551295 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 554af6d0-5a8b-45ab-8051-557878b21f96 CLINVAR:2149933 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2940090f-7e05-4dd1-b7ea-9b11afcf02dc CLINVAR:2149933 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b8990500-5eb2-4464-8ce4-94f39f354a9e CLINVAR:865841 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 166dff29-7fcb-429d-bd84-810acbfc0d24 CLINVAR:865841 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ea78c26f-952e-48c8-9489-8c074bccbbdf CLINVAR:98823 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1c036146-c918-4266-bdb2-6f652bcd2d31 CLINVAR:98823 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 47d659a0-45ce-4fda-bfe5-754ec142fa26 CLINVAR:978979 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 95a4d39d-9ce0-4840-abab-46223d5904a3 CLINVAR:978979 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 52d38ba0-4da7-49a6-b1c3-6197a5fb23b5 CLINVAR:968598 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen be1d0422-ac58-4742-beb0-52f2f7732c9a CLINVAR:968598 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 00a1ae1d-636c-4e51-bf05-d00b5bf3e04c CAID:CA902401 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 846686fd-b0d4-40f2-9f89-418ec1b57c1f CAID:CA902401 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2c0cd856-b909-4f3a-913c-8a6893c64323 CLINVAR:560496 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0fdbc358-21b3-4e67-8b4f-39ff35da24c5 CLINVAR:560496 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 20b84c1e-4cf9-4064-9054-a56c94894f1d CLINVAR:556178 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2948c896-cfbc-4da6-80c2-d9ce51f768ae CLINVAR:556178 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1286887e-8a0c-4fb5-b4a5-8828898cbf68 CLINVAR:98854 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 75dbcb0c-a6e7-4215-9c1a-5748a8dc2ffc CLINVAR:98854 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3dfb2925-574a-48da-9ab7-d6b59c03c504 CAID:CA340744926 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 38b43d19-9cf0-4017-aef9-cf508220eefe CAID:CA340744926 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b6fc1247-9f2e-4c4b-ba1a-d4bf2cf5203b CLINVAR:942448 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2249604c-e76f-488e-8134-e6c7cca3a7a9 CLINVAR:942448 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c76f0b78-b114-4de7-ad0c-75c66b7fef97 CLINVAR:870346 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9806b34b-0dde-4b24-b702-401b5e1cea5d CLINVAR:870346 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5ee4bde1-45fd-4276-925d-f4a459270232 CLINVAR:865946 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0bdbab77-01f6-466c-8181-f11431c6315f CLINVAR:865946 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b3aad63c-8cfd-47a4-a9dc-242ec178af3c CLINVAR:13116 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 66f98cde-39a3-45f2-b4a2-b856d82c885a CLINVAR:13116 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dde92dc6-ba38-4952-8b38-d678419fd55a CLINVAR:521371 biolink:causes MONDO:0100084 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen de4ea640-bdfa-4a48-bc2c-7f468b9bfaf1 CLINVAR:521371 biolink:is_sequence_variant_of HGNC:129 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ea52f390-0b37-4f43-b1a0-d86202d14c92 CLINVAR:464114 biolink:causes MONDO:0100084 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen cbf14064-0837-4cf8-940b-0aae40c868ee CLINVAR:464114 biolink:is_sequence_variant_of HGNC:129 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e246d902-8f8d-4ba8-a06f-f4f1d86a121a CLINVAR:1452968 biolink:causes MONDO:0100084 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3692f7b8-d8a7-4ae7-b903-69b62fd8364d CLINVAR:1452968 biolink:is_sequence_variant_of HGNC:129 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9ee18698-1020-45bb-88fb-ac5abd92f3f9 CLINVAR:18292 biolink:causes MONDO:0100084 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1503eb54-62f1-4db7-8ee8-16e9b9fe2497 CLINVAR:18292 biolink:is_sequence_variant_of HGNC:129 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0365c9fe-ac14-48c6-b9ad-6ebe61ccca15 CLINVAR:338429 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 85c1974d-0579-4feb-adcb-6d7d49b7edb9 CLINVAR:338429 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f7d3d875-cd3d-42cc-bcbf-7972f0b4bc86 CLINVAR:129237 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 871d7fd9-b4b4-4031-a426-9e508a521966 CLINVAR:129237 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8d76e8d6-7e39-4e6a-b027-7f86de6024ff CAID:CA409110424 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 005668ca-2b94-46eb-aecd-1317f1bdb9e1 CAID:CA409110424 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ef4eb0f7-bd67-4279-9c82-8a94b41540ba CLINVAR:811 biolink:causes MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0acceaa0-891d-43ea-854b-fd7810ef7ef3 CLINVAR:811 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 969b6715-b51b-423c-a45c-1047e97d5172 CLINVAR:598113 biolink:associated_with_increased_likelihood_of MONDO:0012589 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 57db2a96-823c-435e-a0dc-0da84ecffdf1 CLINVAR:598113 biolink:is_sequence_variant_of HGNC:11634 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bed4f4e4-b4e0-4e8f-8ca8-e40a380fb95f CLINVAR:4022 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9b2ccb90-5be7-46a9-92ca-4f3644e1ee6b CLINVAR:4022 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 93e23777-583e-4b8b-8d68-31bd5cc34062 CLINVAR:188484 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a2d14611-c8c3-4400-83ee-04be819f0e72 CLINVAR:188484 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 274fd9d8-0de9-436b-b846-36a2ef256cde CLINVAR:375778 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3df0f9f1-b558-44c5-b3e5-241ffd0db62d CLINVAR:375778 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 34a9a6d5-a99e-4dc6-9853-4fd24c67c70e CLINVAR:569548 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 163b17b2-7049-463a-9ccc-7cb9076ef98e CLINVAR:569548 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aa8fd7ed-abdc-49dd-b078-3bedc80c646c CLINVAR:439360 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 45ab7928-7954-4dd9-9002-f5434ae41300 CLINVAR:439360 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5bc33a3e-1602-4258-af74-59d858dbe5e7 CLINVAR:464139 biolink:causes MONDO:0100084 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen da7177f3-78d2-4d82-af65-132928addb60 CLINVAR:464139 biolink:is_sequence_variant_of HGNC:129 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen afc3d7b4-e60c-45e0-b3de-bb7bd269aa26 CAID:CA915940544 biolink:associated_with_increased_likelihood_of MONDO:0100084 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8584dd6c-26cd-4954-ad0a-1a8b2df626bd CAID:CA915940544 biolink:is_sequence_variant_of HGNC:129 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 01909d2d-1a3d-4708-85d8-b43f0e4a72c4 CLINVAR:420100 biolink:causes MONDO:0100084 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c2cf838e-96fb-4de8-a3a9-0daba19d2eb4 CLINVAR:420100 biolink:is_sequence_variant_of HGNC:129 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8cf90a5f-c50e-4db3-a8cd-2ee799f09ead CLINVAR:280863 biolink:associated_with_increased_likelihood_of MONDO:0100084 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 778db36a-a558-4a83-9083-ce28bbed6359 CLINVAR:280863 biolink:is_sequence_variant_of HGNC:129 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 344a92bf-8c81-45b6-b87c-58349371ecc9 CLINVAR:817462 biolink:causes MONDO:0100084 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 53936b0c-21be-45cf-aaad-0930bba3c0df CLINVAR:817462 biolink:is_sequence_variant_of HGNC:129 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 29c3d515-b3bf-4bf9-80ea-557807dd8f00 CLINVAR:12881 biolink:genetically_associated_with MONDO:0100038 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8f47af8a-0dd4-411d-b8aa-6e58317de1b0 CLINVAR:12881 biolink:is_sequence_variant_of HGNC:10588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 73506a90-3234-4ae6-b7f5-7165329f524e CLINVAR:1423525 biolink:genetically_associated_with MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7a4762d0-90df-4b9b-b776-6b66637be421 CLINVAR:1423525 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1cb4885e-2e26-43f4-9882-e05e6fb01d40 CAID:CA2581998917 biolink:causes MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6245fc5e-0117-4ed2-ab9c-7cedb86fabc7 CAID:CA2581998917 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f817b4b2-5eb3-47a0-99ba-0b3f040c9480 CLINVAR:428153 biolink:associated_with_increased_likelihood_of MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1dce3fac-dfa9-41ce-ae78-971722e2bd89 CLINVAR:428153 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d5fe1e1e-bc57-4e2c-895b-53fa758f3a1b CLINVAR:433598 biolink:causes MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 990565ca-2ae1-4c99-8b5d-16315df19259 CLINVAR:433598 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c0417bbf-5182-4dd8-a70e-b03d74aa10c1 CLINVAR:9213 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f957cbfb-1930-4a99-811c-c5870ca43f98 CLINVAR:9213 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2cda613e-4ef5-4924-bb72-139f5f6462f5 CAID:CA409110369 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 14fa29af-a725-4440-82b3-6ac56333e9b9 CAID:CA409110369 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 51c3e748-0cf7-4177-8bde-5e506c6f2958 CLINVAR:1687103 biolink:genetically_associated_with MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d884b013-4ff4-4b51-a931-7b0ddaa9896f CLINVAR:1687103 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 86b7f37b-dba5-431e-a6f2-62025781c4a3 CLINVAR:18033 biolink:genetically_associated_with MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen bc713361-e983-4b01-be5a-15c59f87e106 CLINVAR:18033 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 444f9f49-1d62-4fe0-8a21-ecbb391b405c CLINVAR:18020 biolink:associated_with_increased_likelihood_of MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 90d17d73-764c-4597-a92d-1cf55e203fb1 CLINVAR:18020 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3c826fa7-d8ac-4204-a002-ac330bc3faee CLINVAR:18007 biolink:causes MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7aab1074-1a7b-4f22-80ed-40479fd8de27 CLINVAR:18007 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 667fe830-b2f6-49e8-90ce-1d15698b9d87 CLINVAR:626996 biolink:genetically_associated_with MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fb5bcdf4-89fa-4385-8c8d-7fc1602f58bc CLINVAR:626996 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 48ee1bba-3afa-4e60-96aa-2f219258c4b1 CLINVAR:18032 biolink:genetically_associated_with MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5905799e-d1fa-4849-ae94-54668a7ffba7 CLINVAR:18032 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c1bbf1ae-a389-4ebc-95cf-c88118e4cdf3 CLINVAR:2734038 biolink:causes MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 931e8df9-7e6b-41e6-be88-efd681554181 CLINVAR:2734038 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8e98d9d3-50af-4153-931f-8c33f0033061 CLINVAR:2505626 biolink:causes MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9bec697d-42d6-4826-849a-61c808c5b373 CLINVAR:2505626 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 248e955f-ea4a-4ce2-854d-d41d6e929369 CLINVAR:804125 biolink:genetically_associated_with MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e4d89a75-cb87-477a-bbaa-00ca777436da CLINVAR:804125 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4bc1a038-5e78-4e64-bb8d-a49116752537 CLINVAR:160202 biolink:genetically_associated_with MONDO:0007113 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 37f3459a-45f5-4d5e-bffe-a1bea52fb16b CLINVAR:160202 biolink:is_sequence_variant_of HGNC:12496 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 635fe8a5-bde2-467c-ad21-1d3c4762bf58 CLINVAR:200921 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0f82ac0e-4201-4d65-abe8-20855febc7e3 CLINVAR:200921 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5baae03f-1512-4075-9c7c-6316a30c6a40 CLINVAR:183124 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen edb408a8-f6b1-46ea-9600-85478fc3fb15 CLINVAR:183124 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 93994e3a-a624-4d3f-9292-10b6a0299076 CLINVAR:252012 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4c9c86d0-81f1-488f-a283-e8d007310e68 CLINVAR:252012 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 99337e90-3f6d-4bb1-9fde-95efb9baa3f0 CLINVAR:441220 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 77c75a68-0fa5-4198-991f-0f130882887b CLINVAR:441220 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f26b77db-6dd9-4ada-84c8-80a60bff93bf CLINVAR:252014 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f110f614-44f2-47f9-a093-4051bf906d96 CLINVAR:252014 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cab746e0-fb89-4ca8-9b0e-c31f6d9392bc CLINVAR:11909 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e79161e8-5f7b-4ef6-9cdd-ee392e2fdd66 CLINVAR:11909 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4e8f8721-8afe-4b99-b554-90538904b8f1 CAID:CA2573332225 biolink:associated_with_increased_likelihood_of MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9270dfdf-74f3-4c53-9282-c65f30629b49 CAID:CA2573332225 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d5332248-00d9-4565-b27b-f885e62cb948 CLINVAR:11908 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f169bdd9-e1ff-4dcc-8cc5-3a46e0af7c25 CLINVAR:11908 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5a2d73c9-5432-41c0-b9d0-a436d1662666 CLINVAR:11910 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e5e1bcc8-2cdc-49dc-b6c1-06680c2330e0 CLINVAR:11910 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1047a927-82a4-4bc3-a446-452750944928 CLINVAR:36211 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 16a6f044-d81f-4100-a0e2-c050153931e4 CLINVAR:36211 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 38207323-b55b-4d6a-be2a-558b6eec2c54 CLINVAR:931741 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 527d2a26-763b-4c9c-b118-6b85c7e2c653 CLINVAR:931741 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen af3414f1-a5dc-4543-b3b3-304075cbad6b CAID:CA409104248 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 342bc5d9-8889-4e3e-bd9b-8267045ccd0e CAID:CA409104248 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a3f12ffe-967d-4e25-8ebd-abcd00facd73 CLINVAR:447400 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 987f9038-9c64-4624-9b96-61c66b954812 CLINVAR:447400 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 50d817e4-87f2-4bd5-befb-531c3fbe9b8f CLINVAR:1031829 biolink:causes MONDO:0100084 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8ac087db-a299-4f11-bb18-269a6dcae85e CLINVAR:1031829 biolink:is_sequence_variant_of HGNC:129 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ecce907a-086a-4d9b-893f-d75407188c3d CLINVAR:427190 biolink:associated_with_increased_likelihood_of MONDO:0100084 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 364d3816-6e52-4ae6-815e-4822241e7bd1 CLINVAR:427190 biolink:is_sequence_variant_of HGNC:129 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 958348e0-cb2b-4c7b-89ab-3d3c703a0ad0 CLINVAR:801630 biolink:associated_with_increased_likelihood_of MONDO:0100084 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen af03f70d-a05a-4f20-bcd9-e28ac2474326 CLINVAR:801630 biolink:is_sequence_variant_of HGNC:129 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1c142e5a-6fc2-4093-9315-37cbff6c735c CLINVAR:431989 biolink:causes MONDO:0100084 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen da524a1a-47a0-4dc5-b5e4-85a2daae4be7 CLINVAR:431989 biolink:is_sequence_variant_of HGNC:129 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c04296e8-9155-4905-b5c6-b1acb500e695 CLINVAR:654469 biolink:causes MONDO:0100084 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d69e3982-40bf-4b0b-ade3-9332f7936a58 CLINVAR:654469 biolink:is_sequence_variant_of HGNC:129 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b42dc798-a726-46a5-a546-926f482a74d9 CLINVAR:2136532 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen aca5ca70-3acd-44ba-99ba-86c92b5c45a8 CLINVAR:2136532 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b130da3d-9f78-4976-8889-1f3ae45b3edc CLINVAR:812824 biolink:genetically_associated_with MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2d5e6f53-c421-49ca-a664-b0b1118abb49 CLINVAR:812824 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6086d31f-35c8-4c31-b913-a91124330519 CAID:CA367403885 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7d12ee05-a8da-4522-a9cc-9caf47f10bdb CAID:CA367403885 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0c6044aa-e6f5-43d5-8614-5511ff7bb0e7 CAID:CA367403876 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen dc3be75f-ec90-4e8e-a355-c6973795cdd3 CAID:CA367403876 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a7a5d41a-8e44-4c1a-8488-4dd59f7113f7 CLINVAR:1405428 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9ca0c591-b296-4454-8413-9cb98fc26c7c CLINVAR:1405428 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1f1611b0-617f-4f3b-90cb-9347a02ff1ea CLINVAR:1676825 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9817154e-a5e6-421d-b05e-11f11270c7af CLINVAR:1676825 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0f109537-16bd-40a1-91f9-f052d03e58d5 CAID:CA386960416 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 63aa9483-5c29-4ba1-bba3-5ad97d17f594 CAID:CA386960416 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1781602d-70bd-47e9-9541-7396647f9239 CLINVAR:3393497 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ff4ab1d3-6e22-4f64-adee-7c92d43c212b CLINVAR:3393497 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7879040e-9142-443b-9b45-1a6968b4ca66 CLINVAR:1761584 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9023d345-f590-4aa8-a99d-8f5f4e9ca1ca CLINVAR:1761584 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7bc00648-7d71-4fea-9be7-e6d08ac188aa CLINVAR:1679313 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen aa6405d7-d5ce-4e55-b4dc-8854687584b3 CLINVAR:1679313 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 45a9c028-cd70-43fa-bd17-b2b8caa99aab CAID:CA9870528 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b6747716-7df8-4379-bced-3bccffdc1815 CAID:CA9870528 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen adb8c27b-e042-4a15-a78c-c4627becaae2 CLINVAR:425882 biolink:associated_with_increased_likelihood_of MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1b4725fb-f24d-4ee0-905c-90ee71e78d9a CLINVAR:425882 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 503cd8d1-d7a0-4f29-90fc-7e0203b2392c CAID:CA409106085 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 49db58b3-6149-48d5-b48a-6a874804fd48 CAID:CA409106085 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 606ee012-ec5c-4c98-9a67-8d8c8772daaa CLINVAR:1399408 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8587780b-3772-4a47-bafb-c09d5867e589 CLINVAR:1399408 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c02ab644-24dc-4b20-bb63-d23ee8ead905 CAID:CA2573320359 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6a375b49-f822-4c54-92d6-6f94ebafcb30 CAID:CA2573320359 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d49f11bb-13c8-4caa-89ee-3bab75f85cbf CLINVAR:812825 biolink:genetically_associated_with MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3c9122f8-b48f-4bd2-b613-8b990192873c CLINVAR:812825 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bf8a7586-8735-4b58-bbce-f5035206cf02 CLINVAR:425892 biolink:genetically_associated_with MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 847973a8-4ada-4f6e-af16-ea72f2a18cdf CLINVAR:425892 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 64ec61cd-939e-46dd-b9c6-c6f35653c561 CLINVAR:812826 biolink:associated_with_increased_likelihood_of MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c77ea7d1-191b-4189-9316-93dfdd15fd6c CLINVAR:812826 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e307a6c5-769b-4d01-a0c9-17e50125bedc CLINVAR:425895 biolink:genetically_associated_with MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9626d51d-76b2-4e54-b08f-82f50346c0e9 CLINVAR:425895 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b5943a26-490e-4987-b81a-6b5af3859d05 CLINVAR:65961 biolink:genetically_associated_with MONDO:0100150 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2d46c25a-a63c-4a76-8550-8a4f9ecbd4ab CLINVAR:65961 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2b2762ae-1c54-447c-bcaa-bf979e868b2d CLINVAR:65923 biolink:genetically_associated_with MONDO:0100150 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1fe693cd-d53b-4278-834f-2d2094842a28 CLINVAR:65923 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 519dac57-fcd0-4ba6-87a8-fb90d40aaaef CLINVAR:328993 biolink:genetically_associated_with MONDO:0100150 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a5298687-3ace-4796-b5ad-727be4953fa3 CLINVAR:328993 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 24c46d33-ddfa-427b-8e04-826efb37407e CLINVAR:212104 biolink:genetically_associated_with MONDO:0100150 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 255abe2f-6260-44d8-92f8-8604d724c754 CLINVAR:212104 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 945dad11-5f89-411c-bbe7-2cf654ce4613 CLINVAR:651289 biolink:genetically_associated_with MONDO:0100150 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a918528b-c33f-4796-9b65-3e01758200e0 CLINVAR:651289 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 401666f5-9fe5-41e3-8e9b-1e08a74fd2e1 CLINVAR:571399 biolink:genetically_associated_with MONDO:0100150 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen cc29d74c-edee-4221-b95f-f18690004dc7 CLINVAR:571399 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 89b8d2a2-45a2-487c-a158-78873768d1bb CLINVAR:425897 biolink:associated_with_increased_likelihood_of MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2b1fa624-35b3-4ee8-bc37-1fec42940c40 CLINVAR:425897 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5ed75e81-ad6d-4e3c-a467-5d72cd2def30 CLINVAR:812827 biolink:associated_with_increased_likelihood_of MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 91158320-01c9-491d-a347-f4513128e42f CLINVAR:812827 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f05c7d1c-5a22-4014-94ef-036dc67190d2 CLINVAR:425905 biolink:genetically_associated_with MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ca9d003c-cec6-4666-ae10-1bc27d46f928 CLINVAR:425905 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 49e75ca2-1221-4d30-aabd-2fe674c50f6c CLINVAR:10573 biolink:causes MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0810991f-972a-42c3-a9c5-8a5f425e700b CLINVAR:10573 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7172e22f-8854-4b2f-95c5-081f3941d0d7 CLINVAR:811516 biolink:associated_with_increased_likelihood_of MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a733264f-80c4-41c4-a92d-945f47aafa01 CLINVAR:811516 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 545d0b38-8ff7-49cf-b333-38f916239138 CLINVAR:140555 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 025299bb-843d-404c-8e33-c36bfd5ad0e3 CLINVAR:140555 biolink:is_sequence_variant_of HGNC:27337 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3e14cc8d-e339-4295-9779-e6760a4c7746 CLINVAR:2166 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 63b400e0-43e7-4167-9162-3db5f07b4ec1 CLINVAR:2166 biolink:is_sequence_variant_of HGNC:27337 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f6971f88-b497-4765-94c9-7b0472827c7d CLINVAR:282006 biolink:genetically_associated_with MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 04f93318-2733-47d0-a842-77ed6aedff58 CLINVAR:282006 biolink:is_sequence_variant_of HGNC:27337 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 764cdda7-df9b-4ebe-a482-d1fae3761b9a CLINVAR:627324 biolink:associated_with_increased_likelihood_of MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 71055b05-11ce-41e5-a97b-e8a83dd07ac0 CLINVAR:627324 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1aae3a5b-ca91-4f57-9039-f524760cddb6 CLINVAR:195634 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 632a5695-66fb-4e12-8fb3-2e442cd231df CLINVAR:195634 biolink:is_sequence_variant_of HGNC:27337 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2fcd90c0-0b5d-4ca5-91c9-c3664b5dc356 CLINVAR:439677 biolink:associated_with_increased_likelihood_of MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1468bdc0-4930-48e5-855f-91767e377b5f CLINVAR:439677 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fd485b80-749d-45ca-9000-78d27028d939 CLINVAR:96688 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0f0950ea-b114-4847-95f3-773d6c6daaf4 CLINVAR:96688 biolink:is_sequence_variant_of HGNC:27337 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fcb3cec9-93d7-442a-90f6-81d9bb2ca7c2 CLINVAR:468825 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5e5dcebf-3a9d-48f0-b311-b7a28231fef8 CLINVAR:468825 biolink:is_sequence_variant_of HGNC:27337 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4bf45574-5046-475f-8c88-8b8dd8f819b4 CLINVAR:286467 biolink:genetically_associated_with MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 322bf4d8-be94-45a4-8f5a-5daf80e26586 CLINVAR:286467 biolink:is_sequence_variant_of HGNC:27337 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 07cdfa47-f5a8-44f7-9295-b376cd828cf0 CLINVAR:284518 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4c359444-886d-4779-abd4-df3b347bca0a CLINVAR:284518 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f4c5536d-74cd-4799-ad07-b33152daecbe CLINVAR:286592 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f2c19470-5db6-4c8b-a3fe-e4406f575fb3 CLINVAR:286592 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0f45f213-0808-4eb9-8d1f-181e25773c54 CLINVAR:17615 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f55d3de3-79bc-46cd-a67b-e7f82ec92f88 CLINVAR:17615 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 28120af5-5b29-42fe-8dc8-e3c64d48a661 CLINVAR:496977 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f504b87b-3822-4962-9fd8-5a61033b4af9 CLINVAR:496977 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5186e210-6f5d-4b21-b41b-163b5f7da6c2 CLINVAR:92411 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f62cc164-9044-4a09-afb8-329ab235f06f CLINVAR:92411 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9b1ef2c5-5f6e-46af-87eb-bca4a3b27101 CLINVAR:1072479 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e16e9752-d02b-4e1c-b692-5eb11053cd4f CLINVAR:1072479 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a5f709a6-c6b7-40fa-b0e5-5cd65ab60d84 CLINVAR:217159 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d6649ca0-5813-4c00-8bd3-93cc77113696 CLINVAR:217159 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fb64de92-050f-4e26-a400-25b6cf2810ec CLINVAR:282623 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9bd81570-d76c-4d05-a861-b7591ad57590 CLINVAR:282623 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 59f7315e-c696-4397-9d69-b5982bad0f8f CLINVAR:284946 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 490e255f-dc48-4a5b-9c67-62dac0e6cb16 CLINVAR:284946 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f83beaa4-36c5-4b8b-b9b3-89948854afdc CLINVAR:594086 biolink:genetically_associated_with MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d7a9b3ab-618e-4864-80c9-8b52544641a9 CLINVAR:594086 biolink:is_sequence_variant_of HGNC:10805 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 92739711-99bd-40a9-9987-1273e1b888b4 CLINVAR:452720 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 335aba5d-178e-43fa-88c8-6cc14728ecd2 CLINVAR:452720 biolink:is_sequence_variant_of HGNC:10805 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 318d46ed-5495-48cc-9d3a-2376d070fd0a CLINVAR:37202 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8ce0ddbd-1356-4c6c-9fc4-03cc3b1cbbbb CLINVAR:37202 biolink:is_sequence_variant_of HGNC:10805 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 432ef02f-a503-492a-996c-3c9e3e17a78b CLINVAR:497670 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0c5a830d-fffa-4103-a580-0afc459b2111 CLINVAR:497670 biolink:is_sequence_variant_of HGNC:10805 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1a70be93-3bcf-4def-9e64-f32213adf921 CLINVAR:198031 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen fc13953b-5821-4ef4-8762-bbd8c90fb9e2 CLINVAR:198031 biolink:is_sequence_variant_of HGNC:10805 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cf2c5554-4bc3-453e-9d71-1b8fa0b5631c CLINVAR:497672 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4ec35934-cd90-4685-b22c-752950c644b4 CLINVAR:497672 biolink:is_sequence_variant_of HGNC:10805 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1ab16037-336e-494b-91ea-caaa7a3d015a CLINVAR:9437 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a273f846-e727-4cb9-8b8b-90d1b695092a CLINVAR:9437 biolink:is_sequence_variant_of HGNC:10805 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3656003f-f136-4b53-8a34-362400a1d6b0 CLINVAR:978048 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 735bebef-11c7-4456-a264-c26932e3195f CLINVAR:978048 biolink:is_sequence_variant_of HGNC:10805 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e9ae1b01-187d-4566-a777-0b38e184b3a6 CLINVAR:523842 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7e5a4685-a2c4-4a4d-aef7-ee15ecc624ac CLINVAR:523842 biolink:is_sequence_variant_of HGNC:10806 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cc547e2d-11a8-42fe-b276-fc83f40e9a02 CLINVAR:284504 biolink:genetically_associated_with MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen cd7f8c77-44cd-4046-b959-d7ef35b67e5e CLINVAR:284504 biolink:is_sequence_variant_of HGNC:10806 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 20004ab6-2b13-4371-bf91-029bfae0d731 CLINVAR:370474 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0e48df06-adef-4d9b-b87b-857320790bcf CLINVAR:370474 biolink:is_sequence_variant_of HGNC:10806 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d153dc8f-076a-4353-bbd9-1010c845ea98 CLINVAR:551805 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 93b64453-27ae-4d3f-afd2-514793ac591c CLINVAR:551805 biolink:is_sequence_variant_of HGNC:10806 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8ddec7c3-39b6-475a-9f72-503dd883062c CLINVAR:8714 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen fe13c82d-d9a5-4a90-8438-f5147162a031 CLINVAR:8714 biolink:is_sequence_variant_of HGNC:10806 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2655bced-29bc-4283-a3a3-735979fb2775 CLINVAR:1451826 biolink:genetically_associated_with MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6b5b5232-88d4-40a2-a509-3e31b6ac128b CLINVAR:1451826 biolink:is_sequence_variant_of HGNC:10809 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a91f8f11-ff9a-49db-b46b-ecf2f98b491b CLINVAR:289650 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d59b47af-399f-4264-a8ce-fd7d4373ad9a CLINVAR:289650 biolink:is_sequence_variant_of HGNC:10809 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 531a4de6-c270-4cd6-a6fb-3abc4a01556e CLINVAR:836267 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 59b94ceb-eae8-4f15-970b-b0147fd5d8ab CLINVAR:836267 biolink:is_sequence_variant_of HGNC:10809 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1d4c915a-0c17-4483-b067-0252d4d2a2aa CLINVAR:189243 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0dbb91cb-3b22-43e1-a9d6-e720eaa52a46 CLINVAR:189243 biolink:is_sequence_variant_of HGNC:10809 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 03376038-5ef7-4dd0-ab70-eb4e00e1bf20 CLINVAR:2008 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen dcd8ebb7-2d03-470a-a70e-1f52ec32b351 CLINVAR:2008 biolink:is_sequence_variant_of HGNC:10809 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c3338755-60b8-44c8-88cf-172df236b45a CLINVAR:192194 biolink:genetically_associated_with MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e25c0ce4-f414-4c22-9487-3cc2bb28dc15 CLINVAR:192194 biolink:is_sequence_variant_of HGNC:10807 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c43bed29-6c63-4629-9293-12c338184ca3 CLINVAR:652862 biolink:genetically_associated_with MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen cf660935-f8a6-46e4-ac0b-20676bcf7a0d CLINVAR:652862 biolink:is_sequence_variant_of HGNC:10807 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d304fcbe-eb71-402e-b85b-5384881ff74b CLINVAR:8172 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a1b9750c-60b0-4762-a447-8c0fe993ccd3 CLINVAR:8172 biolink:is_sequence_variant_of HGNC:10807 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 77b6f7a4-b4cc-42ca-be57-8ab6bca055b5 CLINVAR:202088 biolink:genetically_associated_with MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 39a18b01-1488-4fd5-a861-d2bbf55d9253 CLINVAR:202088 biolink:is_sequence_variant_of HGNC:10807 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3ff980dc-6661-4243-ac23-b7d043090efa CLINVAR:1677453 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f474c3f4-6e8a-435e-9c91-25fd8a786da0 CLINVAR:1677453 biolink:is_sequence_variant_of HGNC:10807 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0a1da659-f931-4f41-b39b-2dad7a1b0283 CLINVAR:288644 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e65c3c5e-ebee-4a94-a5df-ecef0b06507f CLINVAR:288644 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 42cc4eea-8ef7-4a43-b40f-54bd0834a168 CLINVAR:217224 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3959c3d6-c595-417a-a764-f0c409f8a8bc CLINVAR:217224 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 70396ab7-634e-4156-9075-12a60e2346aa CLINVAR:290209 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5731adba-f3df-479c-9fbf-39a19f055141 CLINVAR:290209 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1904f14b-d1a6-4f41-9571-24af0673944a CLINVAR:94365 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 80227be4-a522-4b56-93fd-37052720101d CLINVAR:94365 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bf5074b2-b629-40ae-9b99-62ef185a59d6 CLINVAR:282861 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen af4482bb-c93f-437f-9104-7834920b9ddb CLINVAR:282861 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5c0ecf41-20d3-4fc4-b15b-253bca5a3e73 CLINVAR:195490 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9d886a0a-ff3f-4a71-ae01-ed0151871f9a CLINVAR:195490 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 457d2b4f-6fbc-45ab-a6d5-b345e1888454 CLINVAR:94291 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5606115b-ef82-4e8a-af01-698de26dbcba CLINVAR:94291 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6fbe419c-11d2-4618-ac95-517dfe8adaf0 CLINVAR:936623 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 39683382-6e50-4919-8406-009b3c10df5f CLINVAR:936623 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ff2b90fb-7ea3-4712-93d3-503fd008e18c CLINVAR:6685 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f4b625d1-8d62-4334-add3-d14516942309 CLINVAR:6685 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cf0cb78a-10f0-4876-9ab8-05b4f7d2d3e3 CLINVAR:94347 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2b1fb4f5-d26e-4a43-bf7a-eb2c8dc3847c CLINVAR:94347 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ef90483d-7dab-476d-94ce-d13656310422 CLINVAR:2674990 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 29fcf225-cc5b-46ac-8bba-6709867c7a10 CLINVAR:2674990 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d6c97e74-d1a4-4f44-8fe8-caccca789c68 CLINVAR:288647 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4be39326-4f7e-4a9a-a189-3978126ca236 CLINVAR:288647 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 065e9713-aecc-4970-84eb-d7aff67d61be CLINVAR:2734216 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0b822409-65cc-4020-8470-a083838b377a CLINVAR:2734216 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1adf4051-ec07-48ab-b3b2-121cd6393a75 CLINVAR:283205 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3d85c0d8-a489-41d7-95b4-63b0f0259dff CLINVAR:283205 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8ec134b9-6036-4b19-9c22-f51a27ef9e5b CLINVAR:6684 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 167d6814-46ba-46e1-9c1a-3575a6e78e73 CLINVAR:6684 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3ac3fa8e-574d-4eb7-ae4b-b125e8aaf1ab CLINVAR:1803708 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8952ece3-eeea-48b6-8ca8-48762dce5ba7 CLINVAR:1803708 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1cbba925-79ad-4a46-8fc8-52f86b5abc81 CLINVAR:94278 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c3986fff-47b4-423a-b6a8-416b6794693a CLINVAR:94278 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6c1c9f8b-d9c7-4633-b01d-64dd114bd3da CLINVAR:555968 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7c2f401f-7966-4434-81f8-900fb7e660fe CLINVAR:555968 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b8ef3693-39b0-4b23-ab25-a4489cc27c61 CLINVAR:312 biolink:causes MONDO:0015631 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 27e29454-b0a9-447a-b135-641a9f5c213c CLINVAR:312 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d440577a-caf7-44c3-b1fe-4b8624fb65ec CLINVAR:100208 biolink:associated_with_increased_likelihood_of MONDO:0015631 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f96f64f9-b7fe-4f05-96a0-b092c4f7403a CLINVAR:100208 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3d94e0a5-d9f4-43fb-88ec-0643e2fc0f75 CLINVAR:813985 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 11f0782e-98c9-4428-a678-77531c597fa3 CLINVAR:813985 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5fcacaee-5360-426f-826a-a40b8c91a893 CLINVAR:653601 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 183c232d-06c8-4b07-9e8a-29b2b495979d CLINVAR:653601 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eb7c650b-2a2f-41e8-8b28-ca36312bbb57 CLINVAR:17621 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e9981bee-9b36-4b56-a4e9-61d51f02626c CLINVAR:17621 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3286090d-068f-4fb2-bcc8-b054054dd4b7 CLINVAR:217151 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen dc3c5fbe-c5db-49c9-810e-1758f678d14e CLINVAR:217151 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 86294c93-d185-4b01-ac3e-d6b5c6f2de44 CLINVAR:620114 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen aaa621db-192d-4eaa-bf65-7f95676d3f1f CLINVAR:620114 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 115cb037-18ed-4da9-a518-b2788000e0c6 CLINVAR:17618 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a67bb1d7-fd40-49b1-9896-b68e80a20e9a CLINVAR:17618 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8327c52b-0825-4eb8-9ca7-c8652e25b1bc CLINVAR:501754 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 91b8b9ec-2487-4af4-816a-011cd25c0326 CLINVAR:501754 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 329cef98-290c-4fc2-874c-cb8fdd376cfa CLINVAR:92408 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 06cf297c-87ea-47fc-ab88-5d67b1e7da62 CLINVAR:92408 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ce8953bc-2652-4dac-92a1-2e1b9afde73b CLINVAR:65693 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9ce248d7-f37c-4475-afcd-2d66dd63b0df CLINVAR:65693 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d8cd0b2e-46f2-4a32-a96c-23d8455aeb5f CLINVAR:197624 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 12188d66-b393-4b4f-a36e-466c63cd5d15 CLINVAR:197624 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 750e077c-f658-442c-96de-d8a160489a24 CAID:CA2830782976 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6f7c8d20-5b98-4603-ba72-2fb0da31aa5b CAID:CA2830782976 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1e69d3eb-2ce7-4062-9775-b33c93c4a901 CAID:CA2582131592 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5c1bd481-b732-48ff-86ac-6c3aad9a05ad CAID:CA2582131592 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 22e6ac9a-3225-4904-aa0f-017818935256 CLINVAR:217147 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6115c381-7d22-457c-bd8f-5a04c832d66f CLINVAR:217147 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 01e32714-6f6c-403f-bade-1e6bcb67a85d CLINVAR:17622 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1c54a9f3-1717-4fd0-adec-e380cc8d64df CLINVAR:17622 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9da5f921-cae2-4260-affc-91f19b9f4c51 CLINVAR:166790 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 659c5e9b-372c-405a-82fb-df5fc98a7119 CLINVAR:166790 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9b3ffb68-9faa-4a43-97cc-a7e66fe5bf27 CLINVAR:283259 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 29b9725e-f820-436a-85b4-48d098532661 CLINVAR:283259 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6f9bb233-c1e1-4e42-83b8-e079b804eb3d CLINVAR:289082 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e4e7c5b3-977e-4a92-9b0a-e0e05c47765e CLINVAR:289082 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aa8ad63b-c65a-491c-b092-4b0039a99d07 CLINVAR:282873 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen bd3ba077-dcf1-48ac-ba40-ad9ef66f113c CLINVAR:282873 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 11f38a36-ee5f-4f52-9c2b-3f6c6930873d CLINVAR:497182 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 580705d8-a9e4-40a1-9324-92adc0d92a24 CLINVAR:497182 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8fd9ce4d-cade-45af-87c3-326f48a6cdb3 CLINVAR:554906 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6675375a-39ae-4f70-9a51-cc1fe6e6c1e0 CLINVAR:554906 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cc1468d2-de82-4a91-a200-29bd28ef86e1 CLINVAR:280226 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d2774877-53f5-4501-8a87-77277b210c85 CLINVAR:280226 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a1ee07ca-c20c-4098-95fb-1d9992a3b212 CLINVAR:1429635 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b941564a-5815-46e3-baf7-cb587245bb05 CLINVAR:1429635 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5a6898da-3df9-45da-9fc9-412dd8a8e2cb CLINVAR:651752 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 207ebc12-07ce-4b16-826f-2cd1b25e3ec5 CLINVAR:651752 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 698848f5-f365-4cbe-a5e4-d9ea15cd439d CLINVAR:499193 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 83eb9fc2-ffc5-46d4-ae2c-d12efd94ad1a CLINVAR:499193 biolink:is_sequence_variant_of HGNC:10806 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2c4634f6-7419-4792-9046-320f09935ae1 CAID:CA2695237858 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8bc04f07-1640-4e27-b5e4-bb7c136eee6a CAID:CA2695237858 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2f29004b-e339-481c-9e1d-3c331571d8d4 CLINVAR:8712 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e63c0bd9-3b81-480c-beab-7711a7a75b59 CLINVAR:8712 biolink:is_sequence_variant_of HGNC:10806 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cc8a66b1-2539-4ab7-a90a-b085e88b0115 CLINVAR:804100 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 75224920-c996-4dd2-b187-30a145b2f87f CLINVAR:804100 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 41323a85-3bf1-4836-8079-b9605861eb42 CLINVAR:9439 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 34bb6ad9-ae50-4e00-a38a-4ae8ef72eb3a CLINVAR:9439 biolink:is_sequence_variant_of HGNC:10805 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c3a8977e-51f1-4cc8-9df9-c72d33da4f7c CLINVAR:427187 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen aacc420f-e282-4f9e-a2f5-1ea62f5980ca CLINVAR:427187 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1128f861-88bf-4c02-aa01-020884e45fcb CLINVAR:92302 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 68542c27-48f6-43c8-a78a-b0440747526d CLINVAR:92302 biolink:is_sequence_variant_of HGNC:10805 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 499cff87-c7fc-40a0-8eb1-f716ffcc1e64 CLINVAR:1336429 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ef7b44a9-88ed-4f07-a500-551945f87ae0 CLINVAR:1336429 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c19b4e45-6c99-48bb-9a4a-53da2334bec2 CLINVAR:217250 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 03c71e40-1cfe-4c08-a3ed-72258233bb8f CLINVAR:217250 biolink:is_sequence_variant_of HGNC:10805 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2bb84bb6-2973-46e2-9ea5-ebb2a452fa66 CLINVAR:197402 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b5220eaa-306f-4d21-9a5d-f5b2f0522a56 CLINVAR:197402 biolink:is_sequence_variant_of HGNC:27337 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 978fea2a-75b2-40f2-b560-6cb1982f305b CLINVAR:2164 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6a02d0f1-4d42-4638-8669-83d3096a31ee CLINVAR:2164 biolink:is_sequence_variant_of HGNC:27337 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 83aaf362-d662-4d93-a487-c9c74d0ed4fa CLINVAR:280322 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 88bc275f-4933-42be-a5cd-73c6d9369080 CLINVAR:280322 biolink:is_sequence_variant_of HGNC:27337 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 529e1283-63b2-4126-8d49-05a37abe191f CLINVAR:370775 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 69287739-16bd-412e-a5f8-b95ae2c55a5a CLINVAR:370775 biolink:is_sequence_variant_of HGNC:10806 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e7b7fd68-8e9d-4c22-91f3-b4aeb754c02c CLINVAR:252122 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a1553d1b-4305-45bd-8fbc-f328d4cf525f CLINVAR:252122 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 66ec531d-1153-403e-81dd-78b948c1a1e2 CLINVAR:252121 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 26e2dad3-9e11-4eb7-bdbe-4aa2f3a742d9 CLINVAR:252121 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c75d7fa3-6a95-462f-a1b3-2c92ac390af5 CLINVAR:252132 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 64e36c66-b897-4ffe-8949-2f51b88ecd80 CLINVAR:252132 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b55a592d-e54a-4572-b96f-7e2eb160bbac CLINVAR:979168 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 06d72abc-baaa-478b-ad09-29b2ba6cd0a5 CLINVAR:979168 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 13079172-407f-40b6-9648-2bca8018bad5 CLINVAR:250929 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6a6e9b48-ed76-4caa-8fa1-d3f581f6569b CLINVAR:250929 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7a73aaa3-a9d5-4783-9a34-32835a1243ea CLINVAR:407699 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 18eeeef7-21f2-42e1-aa04-a43c99a0864a CLINVAR:407699 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 76496f74-b087-43c9-80f5-146d9cfd9175 CLINVAR:3572871 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 23eac28c-8672-45e4-8890-d42435eb8827 CLINVAR:3572871 biolink:is_sequence_variant_of HGNC:28519 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 863e4a5b-8e84-4399-951f-00e22237fbaf CLINVAR:189177 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 243e1557-4746-4a27-a0ca-0fdf4944c6fc CLINVAR:189177 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen df6fabd5-38a1-40b4-ae63-073303bfb30d CLINVAR:232248 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f4c54235-1454-4894-9ef6-f350883d7642 CLINVAR:232248 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ce8dfe74-c985-48e3-8af8-30ae002adcc1 CAID:CA2497029997 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 922a0cf0-368d-4b2b-ba3f-a94602f509f6 CAID:CA2497029997 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cb48019d-fce1-4bd5-9077-49a1d9f14fc6 CLINVAR:3148828 biolink:associated_with_increased_likelihood_of MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen cdccaf5d-88d9-43e0-b63e-d2e5a8692be2 CLINVAR:3148828 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dabbf432-3ff2-4a87-84c2-5da1dd4b954c CLINVAR:646712 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 878dff1d-1a2b-4b47-8e91-5058938fd633 CLINVAR:646712 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e9f530b3-6837-4357-9b1e-5d585b89d655 CLINVAR:482526 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6a666dca-411c-4029-92cf-3e628aa191d4 CLINVAR:482526 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2abf5cdd-cd31-4829-98fd-a77c60f37b1c CLINVAR:135780 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 869f764e-8ff3-446d-bf6a-2c9350f0f7c9 CLINVAR:135780 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen db9ec6e4-80f5-466c-9db5-10d114773dc2 CLINVAR:846136 biolink:genetically_associated_with MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 73e6294a-5cbd-497e-b60f-66f9db15b636 CLINVAR:846136 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5d06d753-275a-474e-8295-fbe99d6f6e61 CLINVAR:1422249 biolink:genetically_associated_with MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e22bea18-f325-48f3-afe7-abfe270e6f4d CLINVAR:1422249 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 70db1b49-1151-4f80-83ac-a72ee07a42e5 CLINVAR:420008 biolink:genetically_associated_with MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 66f3a9d6-b88f-4c8f-a325-68c778ec80dc CLINVAR:420008 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1de18a8e-f4ba-4538-b542-91e0a2e1d5bf CLINVAR:857860 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 922ac337-ea60-4031-9133-3be21f543d21 CLINVAR:857860 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bf8acd29-7297-4488-8f14-dea42597b8c1 CLINVAR:142355 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e2a96c94-0a63-4ad3-a553-98c62d3e0ffc CLINVAR:142355 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ae76db14-434a-4501-9046-c0e589a3cf73 CLINVAR:371636 biolink:associated_with_increased_likelihood_of MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 90e34ab2-225e-410b-905b-a85199204911 CLINVAR:371636 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 42d038cd-c31c-4361-a3d5-b108a2cb46ca CLINVAR:185137 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1f8f260c-329b-43cf-9900-0e1aa2c6d9f9 CLINVAR:185137 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0b095bc3-4863-4551-8eec-5b2e3b039a92 CLINVAR:826252 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7d1f349e-6be3-4a72-807d-9f58a1c4a8ca CLINVAR:826252 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1587a281-078f-4ead-b576-0c09d05174f5 CLINVAR:407482 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c17bbd69-25b6-4577-83d5-c4ebfe717353 CLINVAR:407482 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9ad38742-7ead-47f8-bc35-f9b94fff6510 CLINVAR:141721 biolink:genetically_associated_with MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 22ce1ff9-06f0-481c-a1d9-8d2366a68b39 CLINVAR:141721 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8fbfcc2d-8bdd-4620-b207-88643f69ab97 CLINVAR:142187 biolink:associated_with_increased_likelihood_of MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f4757e9e-751b-4b99-8784-c749b589ed3f CLINVAR:142187 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 003a0ae3-0ea8-49c7-a2ec-c3cbf3511fce CLINVAR:189104 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 235e0cdc-b77a-4c78-978e-7eba395c658d CLINVAR:189104 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 49062dd4-c37a-4ccd-8ba3-a6d5bd4bef02 CLINVAR:233553 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2bed877f-93db-477d-968c-96302e37a6c9 CLINVAR:233553 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 862bbcbd-41df-4c0e-9fdc-d1f44671ba76 CLINVAR:420368 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 82cdeaf1-8a59-4dfd-87b0-26db0288fb8f CLINVAR:420368 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dfe288a1-ccdb-47a5-a9d3-5f146a22093b CLINVAR:140889 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f58a4a4a-d284-42b3-a2b9-23b2638c3b43 CLINVAR:140889 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e8464502-5c73-4b10-9ee9-4e8a261e7c5e CLINVAR:3035 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 63ce1933-1ef6-4e30-8ad3-1ea204b0d8e0 CLINVAR:3035 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ab210d8e-9693-4fc3-83f8-e94b18b08939 CLINVAR:186242 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen da78a0f4-be0a-4ff0-8a51-d3156797fc0c CLINVAR:186242 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 86d2e730-9ad1-4795-9f9e-0d1b6ed45763 CLINVAR:3021 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen df1b376e-7a51-48e5-9d8f-a76bdbe8be9f CLINVAR:3021 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5ae5f41e-bcaa-4407-93a6-e38dc48cb3be CLINVAR:216024 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f66a5f45-2dcc-4f53-80a4-00009c53d1c4 CLINVAR:216024 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 91a98d64-5b98-4b86-9f2e-099a51dac26b CLINVAR:417621 biolink:genetically_associated_with MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a4e326e9-3fc2-408d-925a-5588c8786079 CLINVAR:417621 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 49c8034d-22c5-488a-be51-c4d1b465d2ed CLINVAR:221124 biolink:genetically_associated_with MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 23eaf331-ba95-4ead-a8d4-8439101a8b21 CLINVAR:221124 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b5468c83-480a-47ac-b149-78d8495966bc CLINVAR:127374 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 58e3510d-1c2f-4ab5-8b3f-801c8d76fc59 CLINVAR:127374 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3c60eebd-89fc-4c5f-a406-f69ee9e661d8 CAID:CA915940463 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a1839aa9-e8c4-4776-b867-25aa69fc7b75 CAID:CA915940463 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a6b10bfe-e99a-410a-80ec-1f4ffb88e501 CAID:CA414914388 biolink:causes MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 550244b7-52dc-414a-b553-e8b98cdf2972 CAID:CA414914388 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d39e7cd8-5e6f-452c-9f39-e3e072f14b79 CLINVAR:2123722 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 616f0cf4-d12d-42b5-8197-626408a0434d CLINVAR:2123722 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4b0d8824-0d1c-42d1-afb1-55402bba7162 CLINVAR:2420457 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen dd36475d-8748-4aec-a460-754e41b83649 CLINVAR:2420457 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a85301bb-592a-460c-83f6-2ce111e6fc77 CLINVAR:3343122 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4eaaf47b-4b7a-4869-8050-072f22c80bcd CLINVAR:3343122 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2c2ea7b8-a427-4205-96d3-649f71436189 CLINVAR:3351124 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2d7d38ad-fbc8-4d4e-9b9d-b0e75cb93703 CLINVAR:3351124 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a57b6625-24d4-4da9-b7b5-0052de7e8b34 CLINVAR:897696 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7f8a2ad9-16ec-4418-a6b5-bdb9a0f41254 CLINVAR:897696 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 54d6ee46-b9ba-43d0-be26-c69a43c8f648 CLINVAR:2851140 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d2d083a7-5aaa-4e1b-ae7a-9d100cb7f557 CLINVAR:2851140 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aceb896e-e87b-4a55-b2c7-20b46b8a3651 CLINVAR:3067798 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8d41ac8a-6ae7-47ab-8ec7-c366a3210acf CLINVAR:3067798 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 86af6dee-95b3-46f7-ae66-b2bcf5f902bb CLINVAR:2631353 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8156f00f-7bdd-4233-be42-65dd1ac0cf84 CLINVAR:2631353 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen af70787f-b307-4b53-b375-328dbba4e744 CLINVAR:2844927 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b7189e05-861c-43c6-a60c-f4575efb562d CLINVAR:2844927 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0072a788-50ed-44e0-8f67-0ae117d6a216 CLINVAR:1299484 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b1339135-707f-4065-9b1f-7d3718ac37aa CLINVAR:1299484 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0d7275b6-86b6-4d07-8171-e3cef07e409a CLINVAR:2501756 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 160a937e-27a1-40af-ae5a-6a24c9401b60 CLINVAR:2501756 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 35af5df6-9cf8-46c1-9346-d56c89fc98fb CLINVAR:2799017 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9efd2fc6-fc3f-40fb-bcad-ed92edd098c8 CLINVAR:2799017 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 866e93a4-3a0e-4691-9258-14ba9a3b09d7 CLINVAR:2852907 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8434b34b-5d7c-423d-8b01-4f2e1832ee5d CLINVAR:2852907 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ee7ab3de-a817-4ae3-a512-d67c0b70a6c3 CLINVAR:2997653 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 08d7b077-7a18-46c0-af80-0596ad38d930 CLINVAR:2997653 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ba7b21ae-991e-45d2-bd47-e15abb45ee6f CLINVAR:3240390 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f92ea6dd-bb8c-4d83-95ed-031214e220f6 CLINVAR:3240390 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7e83950c-824e-4be1-b646-01c2a7a89f64 CLINVAR:2717092 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen fc01ec16-dff5-4418-b8db-ba7f37e330fc CLINVAR:2717092 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 67a70376-00c4-4904-a3f8-8fcb5932e0c9 CLINVAR:2632141 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 874fb603-e5a1-4baa-bdd9-298c937e668e CLINVAR:2632141 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2ea02a70-057a-4a21-9dcc-8bc4cb9f267b CLINVAR:3370501 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen fab8e027-6555-4997-86ff-d0b66a9483fe CLINVAR:3370501 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 278e2f64-5061-43fd-a67d-9712e25009c2 CLINVAR:1016211 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 60dcac79-cc16-46d0-8bf8-614424632cc4 CLINVAR:1016211 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a4fc6d79-f246-4e10-becb-e42749e3eef5 CLINVAR:1512844 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 04c5fd7e-957e-4fe3-b4c5-c651609b5eaf CLINVAR:1512844 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 528c15fc-4825-404d-8d2c-026bb776d996 CLINVAR:1412137 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5ac91907-e68a-4d5b-a172-d6d2a4141911 CLINVAR:1412137 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fb41b596-8c54-44bc-b47d-4e81807e8a7b CLINVAR:1494340 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2e56903f-104b-465d-9784-c4caffbb2085 CLINVAR:1494340 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3a0cc453-8c65-4ee2-af6b-283b7c7dc7be CLINVAR:964573 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d77c514c-70ef-4603-ac91-90e80a887735 CLINVAR:964573 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen be148739-434d-4ca7-9e50-012e64d25652 CLINVAR:1042591 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0f39b514-9136-47f8-868d-8486010915c8 CLINVAR:1042591 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 75acf5bc-8a60-456a-99b9-1788d61dd46f CLINVAR:1055781 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7c56e582-aab7-4209-bdb7-13df5e89fa5c CLINVAR:1055781 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a7d0ec4c-5e96-403c-b979-ca8f4370c4b8 CLINVAR:2096033 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ebee4480-f391-4122-8810-16d181a0d675 CLINVAR:2096033 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5d35316c-09d5-49fb-b346-6952c0b96fa2 CLINVAR:1491076 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 16d0d830-a14f-4a86-b2cb-bf303aaa9caf CLINVAR:1491076 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen acf24545-fa97-483a-b7b1-bd37613b7c06 CLINVAR:2758444 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d41ff651-954e-4371-97f7-8f2ef1d55e74 CLINVAR:2758444 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7af366b6-0b5d-4d3e-baa2-3d42261ea836 CLINVAR:1515908 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7b20d3d0-0380-40e8-93e1-d18ca1290072 CLINVAR:1515908 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2b093bed-c020-43ad-88cd-2d8f86148bd7 CLINVAR:2860395 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7a20f527-b106-47d5-ada4-519cf0a0a718 CLINVAR:2860395 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 04468459-0446-4195-9764-312e4ac337a3 CLINVAR:2792019 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fdec2d1e-f865-4f6b-b24e-fb774df8864e CLINVAR:2792019 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e61b6788-1100-4cf0-86fb-d87e58ad81a7 CLINVAR:2765874 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1b3a9ab9-41ad-45b8-a7e3-a30fe015e8c1 CLINVAR:2765874 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4c46e127-3a89-4255-9d5f-108f5ede6c85 CLINVAR:339840 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3e083fc0-b7d3-4249-8677-5e9b6d282d72 CLINVAR:339840 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2dd9ead4-66fd-45f3-8105-146abbb55426 CLINVAR:3240387 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5a1b9900-e24b-411f-8b6f-0841508324b2 CLINVAR:3240387 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8faccb9b-dce7-49ce-b9ef-dc1cbc84a829 CLINVAR:1063856 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 86b74eae-2365-4a28-a26b-0ffda87dc1d4 CLINVAR:1063856 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 08ee389b-a238-49d0-99c0-3f0413adb189 CLINVAR:898791 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6a40a1e8-1204-46f1-b0d9-9df28ce2323b CLINVAR:898791 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen caee57d9-3941-4fa8-b5a0-5d464ace8ce0 CLINVAR:896106 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5abc1cca-5723-4975-9891-6745d9b1e575 CLINVAR:896106 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1b546c09-035d-4b42-bb86-86e3106c00a8 CLINVAR:2783241 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 74253c0d-5700-47e7-96be-108583234d5f CLINVAR:2783241 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 54c407f0-4897-4722-aaec-8edd0ca0791a CLINVAR:895824 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3fcea566-7cca-491a-bfa3-f97a65ec7560 CLINVAR:895824 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1cf39ac3-5633-4d6b-85ec-84bf96a2b73e CLINVAR:339836 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0595d84e-9eef-47a7-a643-b6fc277fe6d6 CLINVAR:339836 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fa7a1247-536d-49ed-bd37-a3520e3d366c CLINVAR:1701963 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen de2068d6-d72f-4e06-832a-808692eb998d CLINVAR:1701963 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a7196305-1982-48e7-ab9e-21fa12efe749 CLINVAR:896107 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b7e92ae9-71f4-4d36-8c9a-82b98cf4c54c CLINVAR:896107 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dab652ab-50c7-4b1b-abf4-b411ce141b37 CLINVAR:895756 biolink:genetically_associated_with MONDO:0100083 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 59a69823-edfc-428e-8fcc-5110e47db5a1 CLINVAR:895756 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 08d021d8-e366-468a-bb09-e0e09433d5fe CLINVAR:339826 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2c41681f-438e-4c0a-84df-b4765dbfb112 CLINVAR:339826 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 814dbc16-dd99-462d-8c59-73715120916b CLINVAR:2752645 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 390107da-dd42-4a28-b64c-df9ed54e9359 CLINVAR:2752645 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a185ef73-49ca-4304-a5d8-76f0fbe309f0 CLINVAR:2915634 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1b826fca-2fe7-4891-8f16-fe148652f346 CLINVAR:2915634 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0a3f3006-cf38-4fda-a022-598ab4d8a40b CLINVAR:1002392 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c0a6829b-e638-42de-8bf0-1f6d49e70565 CLINVAR:1002392 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 718e19fc-580b-49b1-b013-16150d7cbb12 CLINVAR:2750603 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 43f3c1ef-a299-4ff5-8dcd-f4124205ec56 CLINVAR:2750603 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 173eb164-508f-4793-b975-d0bf88b6df14 CLINVAR:962238 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 088a8070-29d2-499e-9051-fc25b320a198 CLINVAR:962238 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 253b0669-8539-4a4c-9ee0-83909fe54b05 CLINVAR:1002692 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 15125a32-2359-4501-b67a-545558999d6d CLINVAR:1002692 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 353c1e98-8404-462a-879e-17e426c4105f CLINVAR:2715219 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3d63a3f6-4b5f-458a-8e96-b439d5488c98 CLINVAR:2715219 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3663622d-ea7a-4f2c-b84f-7eb2c22b7060 CLINVAR:1433502 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ba169284-7db6-4b8b-b5bb-72334113612e CLINVAR:1433502 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0b093201-b4c5-4c39-b441-5d7466d6647f CLINVAR:2887997 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen df62a3e3-41ee-4576-9546-5617337e1775 CLINVAR:2887997 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0e5b232e-16f0-4e97-aeee-30c9f4401429 CLINVAR:2810497 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0f388b18-c71c-42fc-bf40-5e7c6be932b9 CLINVAR:2810497 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4c0344d0-6b8c-4d1c-a0a1-222a8cfc7967 CLINVAR:2965488 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d36adc31-da79-4e31-80ae-2d106c746ff6 CLINVAR:2965488 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9c6bd229-ad4b-407e-b9dc-9e4a9f681c6b CLINVAR:2738452 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b52bcc4a-12c1-421c-be8b-75156daed2a4 CLINVAR:2738452 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 774171d9-1040-4b85-98ce-d21f9005e838 CLINVAR:962783 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen bf091f11-6c81-414d-a2a2-c84667e38b52 CLINVAR:962783 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f38af66a-3952-4360-b3aa-3cdc05f678e7 CLINVAR:2397690 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fda5176a-70f6-4b95-ad4b-993efd03aeb6 CLINVAR:2397690 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 24a29018-c4b2-48da-8a85-dfc37693cc82 CLINVAR:1018236 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1903d388-c139-498e-b0f5-5064517b29ad CLINVAR:1018236 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 72078283-ded7-494b-8b65-1fd2125adfc4 CLINVAR:2113692 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a4d67fb6-6dd0-4663-a86d-50a682305cb3 CLINVAR:2113692 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 68f6d8c1-fbed-48a6-8f79-eafc7be698b7 CLINVAR:1036138 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6c243fdd-c965-4818-9199-acc87ed5e617 CLINVAR:1036138 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a36f6acf-27fa-409b-8b42-560aa69b0d0f CLINVAR:2067605 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 55aef163-ea4e-4f2d-a4c2-7816188f72e9 CLINVAR:2067605 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6964b73f-2bd3-4b76-84bd-92ec754800cc CLINVAR:1019366 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1baa3686-24ef-41d8-b18e-edbb89e49331 CLINVAR:1019366 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 49304676-bf24-492e-8009-c8ce89868799 CLINVAR:944258 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c3404e37-3616-486b-b512-62c2a9a5c83d CLINVAR:944258 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 755c392c-78dc-42f9-9f96-7e3726edabb6 CLINVAR:3240393 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3edcd610-ef90-4f3d-be57-fd980c28f6b6 CLINVAR:3240393 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 32cfb190-5184-436b-bd8f-0d0a98b0f88a CLINVAR:1056713 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ce976d5d-21c8-485d-b68c-a6bf594d9f50 CLINVAR:1056713 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fd35e5d3-9dc2-467c-b49b-79ef78377c90 CLINVAR:1635761 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen bccb89d3-4969-462a-98e0-691ba163a5af CLINVAR:1635761 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a81c1913-da6d-4873-9394-d42997eaf9d4 CLINVAR:3240388 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen da6a71fc-0b9e-4f4e-a73c-c0577dc54290 CLINVAR:3240388 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 42e64052-f10a-4940-b16a-9bf3dcad8558 CLINVAR:2770886 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d46751ec-8609-4510-8100-7ff9982c16d8 CLINVAR:2770886 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 56791356-8810-456b-94f9-d73d719b880c CLINVAR:1010308 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 39aee4e6-c363-43f9-99e1-8cee825d2c7e CLINVAR:1010308 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7727cdbd-630a-4a6a-887a-20c7f90d0d07 CLINVAR:2850038 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5670b160-1714-45b4-91a0-29d2618f0cf1 CLINVAR:2850038 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bbcbb786-8ecc-4c1b-8242-02c064910486 CLINVAR:1971169 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 204b0962-9635-410d-a215-07804afddd1e CLINVAR:1971169 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0053c145-fad9-4116-86b6-7b17196b364f CLINVAR:2823312 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c8ec7328-2561-481c-a56a-dd60c709c867 CLINVAR:2823312 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fe87923a-9cd3-4a0c-883e-fef73a76f616 CLINVAR:1037280 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6814e808-cbb7-4991-aa0f-705bcd118224 CLINVAR:1037280 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fea30568-95f3-4dbb-a1a8-5fb91f528162 CLINVAR:2714614 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ce588c67-f580-4692-aa2b-e50a83630166 CLINVAR:2714614 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c9468340-c118-4d55-b03b-a77cf41a6dad CLINVAR:850021 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c6a74e0c-e5fe-476a-a2d0-2f192d8e4180 CLINVAR:850021 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 03094bba-a79b-4669-b04c-429039fd064d CLINVAR:2805569 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d5cbea0f-0162-4935-9fda-57e06f4d992c CLINVAR:2805569 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e60382b4-a2b2-402f-a3bf-f257470cbb39 CLINVAR:2759147 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen bfe29095-3b33-4791-b518-566269b2c55a CLINVAR:2759147 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 962e7cfc-38f5-4865-9911-4bf292dc51bb CLINVAR:1590532 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen db52ed86-5233-4714-9f68-12832b4ac529 CLINVAR:1590532 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f1473391-9b93-4337-8652-3073ef57a4ad CLINVAR:1004142 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a1a8cab2-eb9a-492d-85d6-3b7c545f9a92 CLINVAR:1004142 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3caa5f22-10fc-41c4-b660-20a3edad7d53 CLINVAR:1043154 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 812239eb-a41b-4635-8d99-f3b465a52724 CLINVAR:1043154 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f80d1852-a8fe-4706-846a-f93cdeee7e38 CLINVAR:1996609 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f47c6332-a1a9-41ae-87b7-99240b131411 CLINVAR:1996609 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 90fda1bd-0d26-410b-8775-40751a896c6a CLINVAR:1039682 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 94928333-7080-4217-bc5c-6f1e5fc83cbc CLINVAR:1039682 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6b7f3b1f-b31c-4e10-a014-c8e2981bba78 CLINVAR:2996309 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ac5d8877-9d76-4297-999c-62a1215dfe4f CLINVAR:2996309 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c9caf5aa-1624-452a-bb1c-0334ff3febbc CLINVAR:2717142 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen dcb6b8b2-2a2a-4842-934d-d4621fe01549 CLINVAR:2717142 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e0dea6e4-d486-4897-8937-bb43744885c0 CLINVAR:2717108 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 87102b91-3510-4e03-b7b8-9c7a53ae2b9a CLINVAR:2717108 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f1e9e8c0-af34-42f2-a3fc-2a479d571c3a CLINVAR:2678497 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c08c189a-a6f3-4d3a-801c-0889b8d9d08a CLINVAR:2678497 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fe450878-d7e9-4cd8-8bc5-bbce73a522db CLINVAR:1945048 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c2d57e13-45fc-4cec-bab6-f88fa152f125 CLINVAR:1945048 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 14d539a8-ddc9-4c50-913d-c9347c7b58f8 CLINVAR:2822749 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a49bb9a9-ba50-45ed-b670-e4d663c0805a CLINVAR:2822749 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 23bb286f-0ab6-4a12-9e7d-eca7f122a62d CLINVAR:936854 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f3d1290d-c305-4523-a1b9-fd9478a53bd9 CLINVAR:936854 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 48ecc5d0-0189-4ab5-a6e1-6cfdea2a0d6f CLINVAR:2863363 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3eb89c00-17fa-4347-95ab-a06262234216 CLINVAR:2863363 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fe3cd7a1-65e4-48ea-afed-968b47ee7ac0 CLINVAR:2091961 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b7e0849e-9850-4fc8-a399-c0dcf3ddbb05 CLINVAR:2091961 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8c211038-c1f9-49d9-abc0-99444bb4a35e CLINVAR:2866349 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d8d70807-6753-4ab0-8bc1-4e95b7b97017 CLINVAR:2866349 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dfbf9542-5c95-4734-856e-749e4933c7b1 CLINVAR:2718922 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1da10a4c-8249-438c-8804-ffeadfd313d0 CLINVAR:2718922 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6bcb8b4d-78ab-4e06-8395-3b8392371c4e CLINVAR:2912549 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a8920af9-7b58-4e23-a803-0155b9f8ecd1 CLINVAR:2912549 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3a9b318d-6bd5-4102-b0c5-ce6289a0bc4e CLINVAR:2799969 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e52df04c-d8f5-4abc-9411-de38e9417811 CLINVAR:2799969 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bc6217ee-f0ff-448c-b9ae-485ba8baef27 CLINVAR:2995907 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5a63faea-6114-4bee-a658-4232c0f865da CLINVAR:2995907 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 83ce3f67-bf91-40f6-abd7-8602e63d29c3 CLINVAR:2035147 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3c43eddc-8aae-4baf-b1cc-dbd99669e385 CLINVAR:2035147 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2ac72469-3098-444b-9a6b-f5b6ef4e5a4b CLINVAR:855262 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e5e494ce-4503-40cc-bb78-319475d05e03 CLINVAR:855262 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e866f471-ab6d-4543-9d7c-2b622af8d18b CLINVAR:1508015 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 57b1674d-ca82-4214-9960-a43a0c776654 CLINVAR:1508015 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c69d3b1f-9a56-4069-97c0-d3540eb33c5d CLINVAR:464010 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f18e7383-a2bc-478e-9598-fcc8354bfe63 CLINVAR:464010 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1ddff7c3-10ad-4b17-81a9-4b9c4b081441 CLINVAR:463978 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 807e01d0-f4c0-4087-b426-41792c3c824c CLINVAR:463978 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c72d2b59-bb45-40f4-aaa3-7dc063d2ba6c CLINVAR:2201687 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fbff4b1a-b3c1-4ccf-8195-620abe8f2cbf CLINVAR:2201687 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b366f8dd-41d6-4361-a895-e33fa2357668 CLINVAR:2198524 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0ee45278-f666-4173-abe9-1bfccc59cb06 CLINVAR:2198524 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6964c892-01b7-4bdc-bc60-1b3040286b50 CLINVAR:2163488 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8f813906-ddf6-4de5-b486-82e39e8a8c58 CLINVAR:2163488 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 31274faa-ad75-4cde-963c-c2c9ab1127d3 CLINVAR:2161020 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 755ee9cc-18d2-48da-a0d9-5f599db286ee CLINVAR:2161020 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b9610f9a-82b2-4de3-ba31-feb1ecf74403 CLINVAR:2156664 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 17d86b8d-14ae-4cd6-a739-613c9eb78cf5 CLINVAR:2156664 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8a29ccbe-67bc-4e40-8eb6-56b2f43642f8 CLINVAR:2834944 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 98e1bb34-9e3a-4899-8d94-3672baac5f54 CLINVAR:2834944 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 26da6da1-084d-4815-a5fc-199db9330ebb CLINVAR:898914 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen dafa468e-f878-41d8-ab8e-e73d15824341 CLINVAR:898914 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6dafeb85-959d-4efc-bfe3-2ba5ecf5a599 CLINVAR:1479269 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8099b275-9c3c-4fbe-92ec-7d70639f336e CLINVAR:1479269 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1ec0e21f-2f75-44db-aa26-bc82bbd5c7f1 CLINVAR:1025603 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e606038c-71e9-4ba5-bfe7-dd7aa9c2cb00 CLINVAR:1025603 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0d49596c-0d19-4dd8-bc35-b2a94f51022d CLINVAR:2099170 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ea43accf-1dd8-4380-83d7-69d288e1ef6c CLINVAR:2099170 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4a9a8166-0d1c-4a3c-b2b6-9e569f664ae7 CAID:CA410202527 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7e7323bb-427a-4ee0-831b-fdc1c49cd889 CAID:CA410202527 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 07e49686-c740-453d-9cbb-70e427e157ee CLINVAR:2268033 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 241cd205-092d-4d0b-aba1-6e8d518d3c14 CLINVAR:2268033 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d484b040-1e99-4625-927e-42eed799f908 CLINVAR:1547462 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f30a3e0c-7ba5-4155-807a-2cf69f6f2c10 CLINVAR:1547462 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c13b128d-46e0-4c42-921d-aa566f0c2d72 CLINVAR:2761026 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 830d309d-3fc9-4811-b096-a3012c001929 CLINVAR:2761026 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen da6f8375-ff92-4e39-be3f-140722b542ca CLINVAR:2805962 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4ea1e767-09b2-4473-a22f-a81105e04fa6 CLINVAR:2805962 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e3b53ed9-e504-4644-98e7-fed28f555986 CLINVAR:2769230 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 682378f6-a992-466c-b2cd-259655249511 CLINVAR:2769230 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1b0043dc-34aa-4845-b65c-d797943d01cf CLINVAR:2633656 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 40fe1d25-5cfa-456a-9bfd-c4dbb83aa362 CLINVAR:2633656 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 084eb75d-b36b-45f1-8735-108b8ad86d89 CLINVAR:2443682 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8b84d50a-35cf-4dfa-9963-d205011c88d0 CLINVAR:2443682 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fb173d9d-c6a4-471e-9698-794afa980192 CLINVAR:2108059 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 657c6c3f-d66b-4b50-a863-afdd14c4e99b CLINVAR:2108059 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7b976216-703a-4379-b773-a130ac02ec33 CLINVAR:2580053 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8cb1dd7f-9fb7-464a-a7d3-633f34c7983e CLINVAR:2580053 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c2ce821f-0a0b-4612-8dca-ec41b1666f75 CLINVAR:3068220 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b7b01e64-bb87-4751-b705-ce981d2e040b CLINVAR:3068220 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d7969f72-ed4e-4d62-8070-0739a0a0c55c CLINVAR:2628467 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 285b33b8-27d3-4b93-99ca-b121bcc547b6 CLINVAR:2628467 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5ccfeacb-d9f6-436f-9f2e-e4d4d0851c5d CLINVAR:2910839 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 621171f3-68c6-4f53-a649-416ae7087ef6 CLINVAR:2910839 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3cc90082-6412-4504-9199-6853b12a7b74 CLINVAR:1040026 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen dde09dc9-f915-4ac4-bee0-3c1f35887844 CLINVAR:1040026 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f5538142-34e2-4b8c-b66b-8f9d54edceaf CLINVAR:2126813 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1ba33a6b-19e0-4466-8a20-cd296b7b69ec CLINVAR:2126813 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eb701bcf-2025-40da-a319-bffff87730b8 CLINVAR:409808 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fd3a3a93-2aa8-4ac4-bff0-f1000bc62062 CLINVAR:409808 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 72be2028-2b4f-4ac8-a7fb-755c489f34aa CLINVAR:1012104 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b97e4bab-7f6e-4778-86c0-fc294cd7c835 CLINVAR:1012104 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5507dec9-b556-4b0b-ac12-ac55cafceff4 CLINVAR:1466051 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4e0ea39c-04a7-431a-b712-ba4bf47bade6 CLINVAR:1466051 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8193db11-9b53-4938-86c3-91aac0db1ded CLINVAR:856798 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen cabeff14-034e-4d6b-abbe-5686e891f84b CLINVAR:856798 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d6cff5cb-b34a-4b9a-aeb0-e7cb7d161abd CLINVAR:1684391 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 18df9634-21eb-40f1-8d8d-587df3eed415 CLINVAR:1684391 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1f285287-12ed-42d6-a8f1-621a57705de3 CLINVAR:2091067 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen df5fe98e-8817-4f53-8913-aef39ffd7194 CLINVAR:2091067 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1560fad3-ae82-4262-885c-755c20e86563 CLINVAR:1439261 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 82cc5ebd-9da2-48c0-b0d7-9355e8b1e829 CLINVAR:1439261 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c3f429f8-d033-4f30-8cd2-d2de988fe4c4 CLINVAR:2678492 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen aea2581e-43c4-4110-95af-ad631ebd4890 CLINVAR:2678492 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5e5ebdb1-ee32-48a5-902c-dd0c2cb64776 CLINVAR:2023119 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0bf074aa-f045-4699-9cca-9fb5f4f985c5 CLINVAR:2023119 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0f56f5a4-26ff-41ea-8ee5-1b6bfcd64327 CLINVAR:2767710 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 44203b33-d900-49c9-be40-aa5e2ce563da CLINVAR:2767710 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b2f7b738-849c-465b-8b95-2f5dcd8bb45d CAID:CA410148836 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1b9d9e7d-1c39-42a0-82d7-11f7599cfab5 CAID:CA410148836 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 83096150-0222-4c2d-84db-909337b2082c CLINVAR:2697219 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c5569485-cd8e-4279-b404-a131a51fd77e CLINVAR:2697219 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fddaf1ca-ecb8-47be-a535-61185680c38d CLINVAR:440678 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6098e1c8-6b19-40c1-b1fb-92a56e20c671 CLINVAR:440678 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b7cda177-5ea7-4155-bcd1-6aa6d7219a44 CLINVAR:252213 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 913e0244-fb9a-4628-af7f-c365ac1b06ce CLINVAR:252213 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b1202a00-34c7-4170-9bda-13c0f7e072cc CLINVAR:375833 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 81058361-0567-405b-b696-0d17d6d57687 CLINVAR:375833 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 01f41f27-9009-4a9e-a8d3-df5a8500b377 CLINVAR:183132 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1518006f-fa52-4732-9b8f-545ffc4e8f7b CLINVAR:183132 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 021e46b3-7e2c-4d06-9ba0-60d1ce385eaa CLINVAR:250960 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e034e401-6e77-472b-8509-1f786f4eedb6 CLINVAR:250960 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a204bc67-757d-4ca8-86db-0a3738f94f3d CLINVAR:440624 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 45e06295-1f9e-4d52-a755-d7812fc45d8a CLINVAR:440624 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1c33e775-9a50-4a83-91ca-15e3807b7723 CLINVAR:523715 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0dcc463a-d52b-4d65-bda3-81b896ff49af CLINVAR:523715 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4bf4f025-b1de-4f57-81a1-83b0b14ed03b CLINVAR:251853 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ecd4438c-7fc2-484e-8886-d22d05f79410 CLINVAR:251853 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fa167e5c-9afa-4ee7-a2ad-ecc9738734f8 CLINVAR:251852 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7cd06488-fbb1-4638-8f36-e8b0110ad3d1 CLINVAR:251852 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d240fc4b-45b3-4951-bff9-340becfe17e2 CLINVAR:252269 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen dbe898c4-3b54-4837-bfd7-22aa0f803c8f CLINVAR:252269 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 500c9aa5-39d7-4f0c-89d4-2d777e478aab CLINVAR:252267 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 64c4e4c1-41e7-4fc4-82c9-cd3c6a9c8881 CLINVAR:252267 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen deaef95c-873b-4f58-8848-a0b0d93793e5 CLINVAR:68099 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 13b21d23-19e6-45d7-a6d0-cbd89d00abc6 CLINVAR:68099 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 73af09ee-48e6-457d-8277-46b6b80545ca CLINVAR:251037 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fd44a172-6f26-46a1-974e-4d845a541166 CLINVAR:251037 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0f7c210b-e593-4ac1-9205-076f4e77fecd CLINVAR:425706 biolink:genetically_associated_with MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5f5d6213-6072-47a3-99a5-38b8e41a20ff CLINVAR:425706 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b379d412-2469-472d-aee6-a87640c9a08a CLINVAR:425707 biolink:genetically_associated_with MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ef47d778-277c-4aa7-99c7-a6ccd41d21f2 CLINVAR:425707 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 41b7224e-5e6c-4222-bfa4-7f91d7bed599 CLINVAR:425906 biolink:causes MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 75c33bec-8082-4bda-a84c-9a67356177cc CLINVAR:425906 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ff9476e1-caf9-4493-b6de-d6512cad345d CLINVAR:933084 biolink:causes MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1495fd59-847f-4604-af07-c58c4d857c1d CLINVAR:933084 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 88738db9-3990-4504-85c4-2f5396f02399 CLINVAR:412136 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 329ee9e9-a6a9-4009-b409-56a7cd7b46e0 CLINVAR:412136 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0fa146a1-94e2-429a-a9fe-870b71081be4 CLINVAR:937744 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3ab77414-e64b-4ea8-9ce2-9ea6b421f5e7 CLINVAR:937744 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ce2a50e5-1e42-48fa-81a9-2fdc6bb76185 CLINVAR:479637 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5ca08993-ce76-4a0a-800f-e67de5ed7e21 CLINVAR:479637 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 951e348b-cf06-4ae5-8873-5e8d81adbdaa CLINVAR:479642 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ad368287-1e10-4808-b574-6f198c7126d3 CLINVAR:479642 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b4b2ec9b-dc0f-4b40-8cde-c3db0a101cb8 CLINVAR:854954 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 02eb72ac-fddd-4f4e-ab9b-cc4dba14260c CLINVAR:854954 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 50da121b-9be6-476c-ba0e-c71b633d9b7f CLINVAR:92270 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4a67c658-86b2-4891-beaa-aec564bd7d0b CLINVAR:92270 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 52f9a308-9d9f-4bc9-8e4d-a509e2d037ca CLINVAR:1336989 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ea898080-ad6f-4d05-8547-245807eb94b1 CLINVAR:1336989 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 503bb6ee-7c15-44d5-8b26-13edf998deca CAID:CA409108333 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c1257851-2e84-486d-a784-7753f014d5e2 CAID:CA409108333 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8de0dea2-ecf3-46b2-b350-0077495d998f CAID:CA409108330 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1b1733c5-1e87-403d-8cc2-8387d1a26875 CAID:CA409108330 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2f42b668-6ee6-4251-8a9b-5d4732c85088 CAID:CA409108715 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 688cea8f-60e4-4990-a5e8-0258dc585a1f CAID:CA409108715 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0a65eb66-c031-461c-bef1-8c4a9e7b941d CLINVAR:1700658 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 85fa65b8-9693-4b87-b5c3-6fd70844c475 CLINVAR:1700658 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1f866f97-a4df-4e6f-8d67-9e98fb06929a CLINVAR:338422 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 678c61f4-0c32-4575-b6a0-95c511e6cee1 CLINVAR:338422 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c3d1c97d-dab6-4b75-aca4-c4304d0ed4c1 CLINVAR:447519 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6fd09ad7-8696-4f97-9373-ef8cabdc151c CLINVAR:447519 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5397e8b5-a9d3-45f5-a22e-934b5fc982f8 CAID:CA409108257 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e9de0c54-6428-4a6a-aca1-8fff7d171cb3 CAID:CA409108257 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b725599c-d3ba-4aba-a312-696834672d3e CAID:CA409107449 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen dffa4898-179e-425d-823c-bac58f1eac0a CAID:CA409107449 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3049fd4d-7f69-4d5b-99f7-dc81eeec47b2 CAID:CA367400147 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 15142cab-5fc8-4f22-ab16-77532edad625 CAID:CA367400147 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5c4bc4fe-be90-4b86-bbfe-11dba3430608 CAID:CA367399714 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen fb0e17d3-6f4a-4466-b7d5-4db7534a5bf6 CAID:CA367399714 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 82771e0b-73b8-4b7d-a5af-a85c40423698 CLINVAR:585929 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9c24582d-06cb-4842-8894-9f64871aa3f4 CLINVAR:585929 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ce6b1d1e-8f41-4752-a20f-6fdad73fe91a CAID:CA2695202957 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a1c9ab45-31b6-4ff6-bcdf-48f4b7c8e271 CAID:CA2695202957 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 847cebaa-1c09-41eb-827c-85675847e150 CLINVAR:3602130 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen bf977c0a-5249-4d01-b564-1d291d55a5e6 CLINVAR:3602130 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b8cea4d7-30db-4d64-8642-efbb82220c61 CAID:CA367401330 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen aca35f96-ee2d-4dcc-b524-a5f95c891242 CAID:CA367401330 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4998ad2f-f29e-4d46-8450-576bd2539889 CAID:CA367401332 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5f0b9c06-27fc-4684-8a38-f53d4b5f0c55 CAID:CA367401332 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 315e6219-18fa-4343-86e0-c525e2f80bc1 CAID:CA367401327 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1f61c9a6-37f8-4e3c-b06a-94778f31e98b CAID:CA367401327 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 885c9b7d-d4bb-4a0e-8c8b-0a498c98b92a CAID:CA386960233 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3c7c5a0b-0ec4-4d78-9737-d74f4539e7a4 CAID:CA386960233 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 654ceca2-dd73-424e-89d1-147638e195cb CLINVAR:1317657 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2a6cbedb-a7e4-4c48-95e4-1860f82d2c8d CLINVAR:1317657 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 48530d6d-9717-4b92-9c8a-86c1874430fe CLINVAR:1807441 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3c610bb1-f1ed-4d64-a2fa-13c4bdbf2f25 CLINVAR:1807441 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4635e525-f9eb-49a4-a8f7-a1e20db7ca26 CAID:CA386960365 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 16eba2d8-cf71-4ac9-ad88-0738249be272 CAID:CA386960365 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 43ac9568-98a3-4c8a-852e-344515975572 CLINVAR:1338456 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3646f559-c103-43ad-9421-3e6254e34214 CLINVAR:1338456 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6b900d7f-fc80-43c7-beea-f1b9480f111b CAID:CA386960575 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d85e8616-bbd2-4a5d-945f-37ba9b7be8c3 CAID:CA386960575 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cbc7eb56-ecbe-4a23-b835-8653f6ba3704 CAID:CA2580612112 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0613393c-e571-48ba-8d85-a13ed50874f6 CAID:CA2580612112 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c87df869-da03-4004-8ad5-8c10d9c07893 CAID:CA386958912 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 293fec07-6fdb-43c6-8f61-7b1b10f5b363 CAID:CA386958912 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7055373c-88b0-46f7-85ab-b5fd245fb04e CAID:CA2580612109 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5b364590-7857-42be-a535-3225cb64a066 CAID:CA2580612109 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e38e0d5c-2b46-48f5-994d-343d25698144 CLINVAR:586791 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 60adee45-3092-41ef-86e1-35c228d110eb CLINVAR:586791 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f20720a4-d228-4cb5-a322-47afe987684e CLINVAR:92301 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8c2586d1-23e6-4a7d-9cf5-9d693ec38a5b CLINVAR:92301 biolink:is_sequence_variant_of HGNC:10805 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 47084bc7-589e-4bbf-96cf-f73ae9b4652e CAID:CA347215735 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 159eff81-535c-48f0-8c2b-d8182dea90cc CAID:CA347215735 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 861640cb-2afc-4fc8-9c52-7d4c54f0d8a7 CLINVAR:596790 biolink:associated_with_increased_likelihood_of MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 65009af0-ac92-4d40-b547-b97571302c06 CLINVAR:596790 biolink:is_sequence_variant_of HGNC:4689 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5cb366f5-04d1-43dd-aed5-d25a2df18802 CLINVAR:98582 biolink:causes MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 450f3e56-923f-46fa-8897-6191943a86bc CLINVAR:98582 biolink:is_sequence_variant_of HGNC:4689 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2434ce90-db85-46ac-b6f6-ed6120591ac3 CLINVAR:98610 biolink:associated_with_increased_likelihood_of MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 15168232-5f0b-4bfe-83e8-8bd9f1b04b65 CLINVAR:98610 biolink:is_sequence_variant_of HGNC:4689 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f69e081f-be3a-407a-8692-43d61328dd0d CLINVAR:560463 biolink:causes MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9b00e808-ec43-454f-a2cf-b89a9811d9fa CLINVAR:560463 biolink:is_sequence_variant_of HGNC:4689 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7e923d06-6bde-4fdd-9c8e-ff9c0675a212 CLINVAR:2137915 biolink:causes MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ddd45ef7-cabe-497c-bd32-8b0ed2d7bde3 CLINVAR:2137915 biolink:is_sequence_variant_of HGNC:4689 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f2ddf2bd-e2be-4eca-9aa0-abb73c58508b CLINVAR:423435 biolink:genetically_associated_with MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 24c8e708-f966-4fb8-95de-07ae62cfe590 CLINVAR:423435 biolink:is_sequence_variant_of HGNC:4689 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a1c9ef3f-9956-4f9d-a684-cb60fdb4a947 CLINVAR:859216 biolink:genetically_associated_with MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 07b71ac1-9aac-4553-a666-29c67b292b2e CLINVAR:859216 biolink:is_sequence_variant_of HGNC:4689 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f9a01113-ad0b-4468-a0e2-6bfab1ec0563 CLINVAR:1001416 biolink:genetically_associated_with MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c01dddb5-299a-4a64-a5f0-b91600df5d87 CLINVAR:1001416 biolink:is_sequence_variant_of HGNC:4689 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6d579e97-b2e7-4243-befc-2716d0a396b5 CLINVAR:198055 biolink:genetically_associated_with MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d8c7f13a-1249-4829-ab29-95a0260dba99 CLINVAR:198055 biolink:is_sequence_variant_of HGNC:4689 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 397f0034-a62b-466d-97b3-590fa59dae3a CLINVAR:803314 biolink:genetically_associated_with MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen cb5b02e1-868f-45dd-944f-bd45dfef04e1 CLINVAR:803314 biolink:is_sequence_variant_of HGNC:4689 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 93fa317e-f6cd-41a8-b5c7-56de947d76ec CLINVAR:98546 biolink:genetically_associated_with MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b44acd94-f590-4aab-ba00-0adaec04e026 CLINVAR:98546 biolink:is_sequence_variant_of HGNC:4689 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8b7a6943-be14-49d7-9e66-d06719ad548e CLINVAR:98555 biolink:genetically_associated_with MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 13fed44e-cbca-470d-aa73-316eacf1ffd6 CLINVAR:98555 biolink:is_sequence_variant_of HGNC:4689 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3764a041-4aad-4921-8cda-c97dca213531 CLINVAR:974639 biolink:associated_with_increased_likelihood_of MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9dbdea40-8dbf-47e4-9af3-4097ea85ff41 CLINVAR:974639 biolink:is_sequence_variant_of HGNC:4689 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 43f6319f-b589-4a79-a020-c01e72e26618 CLINVAR:98611 biolink:associated_with_increased_likelihood_of MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e1947614-36f0-4c6c-96a0-3975996c7a95 CLINVAR:98611 biolink:is_sequence_variant_of HGNC:4689 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4a097a84-929e-49de-a3fd-2e489683d8be CLINVAR:1445009 biolink:associated_with_increased_likelihood_of MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d0df8e14-d1b1-42c4-8504-946827aeaeec CLINVAR:1445009 biolink:is_sequence_variant_of HGNC:4689 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6e7e3319-2008-4c81-98e1-fa9b2683111b CLINVAR:98584 biolink:associated_with_increased_likelihood_of MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c23cc8da-19d7-4e0c-88ec-516a0315d7ec CLINVAR:98584 biolink:is_sequence_variant_of HGNC:4689 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d7fb8cbe-aa10-4d5b-b236-39baabe9d452 CLINVAR:974655 biolink:associated_with_increased_likelihood_of MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d516b15f-e7ab-4b82-b5e5-b4eef4998fc4 CLINVAR:974655 biolink:is_sequence_variant_of HGNC:4689 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1502c5ff-0eeb-47b0-af74-084c175e6838 CLINVAR:98590 biolink:associated_with_increased_likelihood_of MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d86bbc21-e273-42c5-b30c-5ff22845baf0 CLINVAR:98590 biolink:is_sequence_variant_of HGNC:4689 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e6324e74-e5cb-4c4f-868a-c8c8f3096d9e CLINVAR:98581 biolink:associated_with_increased_likelihood_of MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1a8e3a63-ed72-440e-91b1-59dd2a2af9c5 CLINVAR:98581 biolink:is_sequence_variant_of HGNC:4689 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1f74cbc9-b67f-488f-b0aa-6c76ae483c09 CLINVAR:98536 biolink:associated_with_increased_likelihood_of MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2812a168-46b8-43a0-af64-0f2d4483efb3 CLINVAR:98536 biolink:is_sequence_variant_of HGNC:4689 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8892199e-0a1b-4f45-aedd-057b39485d22 CLINVAR:9350 biolink:causes MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2820683b-ad84-4e53-885f-4ada8be4281d CLINVAR:9350 biolink:is_sequence_variant_of HGNC:4689 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6fab9812-4f88-4463-9396-c4cc364a07cc CLINVAR:638494 biolink:causes MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 44011ee5-b8c3-4f19-ab2b-e8054142c84b CLINVAR:638494 biolink:is_sequence_variant_of HGNC:4689 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 36218640-5fbe-40f8-a015-68b78f50d434 CLINVAR:98563 biolink:causes MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen da38f06f-3bad-4f29-8cdf-19603d53133e CLINVAR:98563 biolink:is_sequence_variant_of HGNC:4689 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0955dddc-b986-4af7-aee2-9e9e0cc93f8f CLINVAR:866048 biolink:causes MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 996266eb-9e48-4716-a4b5-eddcbc17bffe CLINVAR:866048 biolink:is_sequence_variant_of HGNC:4689 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 590ade44-f58c-4740-9596-b6b9872690b9 CLINVAR:98603 biolink:causes MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1c9d7980-5a70-4eca-bc43-c23e2e8e4bf2 CLINVAR:98603 biolink:is_sequence_variant_of HGNC:4689 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 20f81df0-48a9-4f92-8173-4c77e34fc2e9 CLINVAR:98602 biolink:causes MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e26cbe6c-6366-4a47-b15f-6f4a816b2762 CLINVAR:98602 biolink:is_sequence_variant_of HGNC:4689 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 12097809-1a13-4f35-bb2e-00868268fe0d CLINVAR:803313 biolink:causes MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1f62747a-7837-4566-9972-a94ddfc2d208 CLINVAR:803313 biolink:is_sequence_variant_of HGNC:4689 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 342ba5f3-f613-4bb7-8405-34960da568a0 CLINVAR:98562 biolink:causes MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 92e0734b-83ff-4df3-9fa5-6c7499a64a5f CLINVAR:98562 biolink:is_sequence_variant_of HGNC:4689 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2a7cbe39-006d-4df3-8a8a-91c51cb663b0 CAID:CA8365937 biolink:causes MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2b66ca2c-0465-46a6-8135-8eeeea25e6ce CAID:CA8365937 biolink:is_sequence_variant_of HGNC:4689 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eebee6a8-cc87-4c03-9053-07210a96f87c CAID:CA397954516 biolink:associated_with_increased_likelihood_of MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d292fc7e-e648-4a96-b5bb-eeb873cca120 CAID:CA397954516 biolink:is_sequence_variant_of HGNC:4689 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ffe05334-7ff7-436b-b6b8-1d86d253c2b4 CLINVAR:581095 biolink:causes MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 918d48fa-94eb-4497-9edd-a7a2abae940b CLINVAR:581095 biolink:is_sequence_variant_of HGNC:4689 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c75f0e9d-6f77-4f7f-a231-a29f51b2aa95 CLINVAR:808220 biolink:associated_with_increased_likelihood_of MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b3a39cc6-3b6b-4581-b7de-e9e7d532aed0 CLINVAR:808220 biolink:is_sequence_variant_of HGNC:4689 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b8c7e82d-df98-413a-ad8a-ba72f6a2f5e7 CAID:CA287523530 biolink:causes MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f793e112-f556-4dff-8a65-e619564144ec CAID:CA287523530 biolink:is_sequence_variant_of HGNC:4689 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 25df3dea-52f4-4722-9cd5-0a9d49868833 CLINVAR:587413 biolink:causes MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7bc0aae3-c7ad-4854-9aad-f77636514468 CLINVAR:587413 biolink:is_sequence_variant_of HGNC:4689 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 913cac69-6545-4c35-8af5-d4ef87e5031e CAID:CA397954276 biolink:associated_with_increased_likelihood_of MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ee7a8454-709d-43fc-820b-11a76fc84583 CAID:CA397954276 biolink:is_sequence_variant_of HGNC:4689 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b7eb4657-f009-44b4-ad46-7fc93bbe15f6 CAID:CA2695224294 biolink:causes MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9b0908c2-8af6-4dec-9ca8-36886655113f CAID:CA2695224294 biolink:is_sequence_variant_of HGNC:4689 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 35dc1003-ec1d-4c22-923f-4207cf7fd71f CAID:CA2837582288 biolink:causes MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 313982ce-ea50-4a3f-9f65-72afa89e7af9 CAID:CA2837582288 biolink:is_sequence_variant_of HGNC:4689 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 20435085-e7b0-4956-923e-d92d353264ab CLINVAR:861651 biolink:causes MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 85403497-d099-45e9-beeb-6743d9c1f5b1 CLINVAR:861651 biolink:is_sequence_variant_of HGNC:4689 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2acd13c7-62f7-414a-8354-05ab021557aa CLINVAR:98609 biolink:causes MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5b298d33-3faf-46b1-aeae-b2e1ef74915b CLINVAR:98609 biolink:is_sequence_variant_of HGNC:4689 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bc68d572-8366-45e6-ab7d-66a8228cdb5b CLINVAR:98540 biolink:causes MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3854ea55-06e0-491c-a5a6-92e296c72ceb CLINVAR:98540 biolink:is_sequence_variant_of HGNC:4689 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 413b8fa5-4400-421d-8b5e-a79aeb898b7f CLINVAR:938393 biolink:causes MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 05aaf1f0-7d98-4a3c-a14d-5582679e4e0e CLINVAR:938393 biolink:is_sequence_variant_of HGNC:4689 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f42c8d25-7292-4a13-acf4-ae66e280fef9 CLINVAR:689384 biolink:causes MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen cd457336-4a36-4ec4-998f-b795823ea43e CLINVAR:689384 biolink:is_sequence_variant_of HGNC:4689 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 27dfe26f-c167-4ce1-ab34-34b52527cf55 CAID:CA2695224281 biolink:associated_with_increased_likelihood_of MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 73c9cc60-6de9-45aa-94c2-637d3e8b1d2b CAID:CA2695224281 biolink:is_sequence_variant_of HGNC:4689 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 09a9fcf1-67bb-4eb6-b57d-a033cea43052 CAID:CA2695224312 biolink:associated_with_increased_likelihood_of MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f8cb0f07-6c30-4eac-b4f5-1101530c265a CAID:CA2695224312 biolink:is_sequence_variant_of HGNC:4689 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2ff22afd-0fb4-4d6a-9dcd-85aed4eb625f CLINVAR:665724 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5c64fed2-a65e-4a46-ba5a-22c5f6a2b073 CLINVAR:665724 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a0f5b49e-e621-4873-aa03-5829947836bf CLINVAR:250928 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d586c512-b474-43e6-b2e1-74faa6109344 CLINVAR:250928 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 48a7c663-eb5c-43fb-a2dd-94214735ec86 CLINVAR:251792 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 38c40e3f-0fbc-4958-a9e8-1fd6ef88b357 CLINVAR:251792 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cc86d44b-7171-4aa8-a5cf-f5083fe78b47 CLINVAR:251793 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4e17b4c6-752e-401b-8fae-e51401ccbc1d CLINVAR:251793 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a75f9280-0909-49ed-85fa-b3fbc5861215 CLINVAR:998052 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 34909a52-ae38-4882-9310-53f8d2855579 CLINVAR:998052 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 667664eb-c2da-41dd-9f3e-272d02c889df CLINVAR:251790 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 06272a3d-086c-4ddd-8a74-6e3dcc4629ff CLINVAR:251790 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3ae1a7de-de85-474e-8c4e-97ecad3719e5 CLINVAR:100287 biolink:associated_with_increased_likelihood_of MONDO:0013304 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d2372fa3-4bfd-458e-b2b1-838d6245341b CLINVAR:100287 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 11152bff-1110-4b5f-9d71-adb72bfd8efd CLINVAR:313 biolink:associated_with_increased_likelihood_of MONDO:0015631 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d2939da4-d7ef-42b0-9505-9310e3deec04 CLINVAR:313 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7cfb49b0-0a35-417d-bd1e-7d3b06e59d69 CLINVAR:317 biolink:causes MONDO:0015631 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7bb45e2a-4999-4d24-94b2-8424425eb108 CLINVAR:317 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 490a2ac8-c070-45fe-bbc4-30a6566bad35 CLINVAR:1684007 biolink:genetically_associated_with MONDO:0013304 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ccfeb350-87c6-4f4b-bdc1-87e7e024a0bf CLINVAR:1684007 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 15cc5d6e-cf64-4f4d-b3a7-48aab22f25ae CLINVAR:100305 biolink:causes MONDO:0015629 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2229b2a6-4aa4-40f3-9dca-11e81865ebab CLINVAR:100305 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 679c24ed-c846-462d-8495-dff83305a246 CLINVAR:292 biolink:genetically_associated_with MONDO:0015628 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 18ba3a10-0c59-4b64-8798-a2694d5c4886 CLINVAR:292 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 303c5c2a-7d64-4694-b8a5-f180de2e5f75 CLINVAR:251826 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b78c0937-1b97-4ccb-879d-ec12dd3228f4 CLINVAR:251826 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5f7a730f-e99a-4593-bb4c-3b04dc287d9c CLINVAR:251108 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a96378e7-4ee4-40f9-8445-b15445de0ecb CLINVAR:251108 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6226f35e-5092-41f7-98b7-00508a62fc55 CLINVAR:250944 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 88900897-e595-4def-899a-644c6e7463ce CLINVAR:250944 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 34b21c90-19eb-4892-ad03-2c249c1d4cc3 CLINVAR:250964 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2a7696df-9f77-4230-9069-72a3f8e92400 CLINVAR:250964 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c4674f9f-ddee-4846-9aa9-e289ec32fea6 CAID:CA397319701 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b1498162-45f3-4bc2-8dc4-c9c15cd9de27 CAID:CA397319701 biolink:is_sequence_variant_of HGNC:4439 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 943f54ad-dea2-4beb-8220-8107739169ee CLINVAR:585094 biolink:genetically_associated_with MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 058331ec-8716-46f8-ab5d-166b5e4c9378 CLINVAR:585094 biolink:is_sequence_variant_of HGNC:4439 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4e62f443-b50e-4233-9370-0367e00c7052 CAID:CA2580650458 biolink:genetically_associated_with MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8e93d0b8-0f09-4b1c-a7f8-feb2b68667c9 CAID:CA2580650458 biolink:is_sequence_variant_of HGNC:4439 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 23e43d17-d891-4fda-b662-070fb39a8052 CLINVAR:3690 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f06f908e-0eca-4231-a74f-79f262dd04d0 CLINVAR:3690 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7eb1e717-e69b-4c38-923a-25b2922c7928 CLINVAR:375798 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fa6c6ee1-bd79-43fc-8ba6-c2298d5bc3bd CLINVAR:375798 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0d486b98-1b7f-448c-9f05-d8a59c82cd47 CLINVAR:252034 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 07f2d2ae-a0f0-41a3-92ea-7de460cf2b94 CLINVAR:252034 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b7996504-14bc-4c59-b804-f9cd574b67d6 CLINVAR:431535 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 50b8dbe6-dc41-444f-991a-12fc9dc70f36 CLINVAR:431535 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 88096848-4ce4-4d8b-9869-7e4e54396548 CLINVAR:252140 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen cdf921f1-be9c-4d01-9871-29142829af7b CLINVAR:252140 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2a0b3758-3e12-4056-a959-7b7dc74cd945 CLINVAR:252354 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 86a6fc7a-30aa-4385-aeea-a8ccf03823f9 CLINVAR:252354 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c8d81b6b-c8b7-45d5-907f-d1d0aea3f59e CAID:CA410677511 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen dd64f807-02f4-4e10-bcc4-c2175881207f CAID:CA410677511 biolink:is_sequence_variant_of HGNC:4440 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 815f5fb5-a829-4c34-822f-4d1afa1823c5 CLINVAR:1684369 biolink:genetically_associated_with MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 40942219-4d75-4a3f-b650-451284ce4750 CLINVAR:1684369 biolink:is_sequence_variant_of HGNC:4439 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1d9b683b-4932-4e0b-a0fb-4976a4e9cbc0 CLINVAR:2137887 biolink:causes MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4302527c-a36c-4f4b-a351-61d5315dfe9d CLINVAR:2137887 biolink:is_sequence_variant_of HGNC:4439 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c713994b-f14e-41fa-94ec-c20978179388 CLINVAR:435347 biolink:causes MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 481167a4-59a6-407e-9ebe-873c57973e9f CLINVAR:435347 biolink:is_sequence_variant_of HGNC:4439 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7593dea5-ba37-48b0-a108-b4ea0ab352a4 CLINVAR:1684365 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c7e4e212-e878-45be-91b4-4d3281b3be5e CLINVAR:1684365 biolink:is_sequence_variant_of HGNC:4439 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c1be83d9-3a64-4380-b5b0-73ef467be685 CLINVAR:449564 biolink:genetically_associated_with MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 86baa139-1f6a-4538-99cd-b9043746a2c3 CLINVAR:449564 biolink:is_sequence_variant_of HGNC:4439 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 26b28d3b-8546-4312-9024-0bcc7ad4acef CAID:CA397316321 biolink:genetically_associated_with MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 95958139-e3fa-468d-bb17-99a07284c645 CAID:CA397316321 biolink:is_sequence_variant_of HGNC:4439 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8a0a202b-06c5-43d3-9032-d525732c5403 CLINVAR:1691251 biolink:causes MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a5668408-0348-4d7c-b710-7a8686057f22 CLINVAR:1691251 biolink:is_sequence_variant_of HGNC:4439 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 286a7b46-8d73-4cf0-9edf-14c10cdd2ba3 CLINVAR:1691232 biolink:causes MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 369ea581-6cde-49c5-899b-1019bf0df710 CLINVAR:1691232 biolink:is_sequence_variant_of HGNC:4440 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 05daa029-3eec-486b-b5f0-7733d89ac104 CAID:CA410677679 biolink:genetically_associated_with MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 043c9d84-c0c8-4433-9010-cc0421b11d4f CAID:CA410677679 biolink:is_sequence_variant_of HGNC:4440 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 140427f2-19bd-43da-8582-054bd75afd26 CLINVAR:1691253 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4bae3d10-4cdd-4312-97cc-120d4d73fac6 CLINVAR:1691253 biolink:is_sequence_variant_of HGNC:4440 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 258e85ce-ddbb-43b0-abc9-5b1ac730e57c CLINVAR:1679210 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 43832ea3-2304-4867-91f4-31396cdeecb7 CLINVAR:1679210 biolink:is_sequence_variant_of HGNC:4440 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 182ec7a1-6382-46c8-815c-35056ccbc14f CAID:CA322079952 biolink:causes MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen cc00d29e-dace-471d-9f8b-db545d7ac9a4 CAID:CA322079952 biolink:is_sequence_variant_of HGNC:4440 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f4056daa-7f7f-4caa-8846-88e7e4483771 CAID:CA410676622 biolink:genetically_associated_with MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d4ba48da-e707-4cce-a9e5-4fdcbb392eaa CAID:CA410676622 biolink:is_sequence_variant_of HGNC:4440 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bffb8064-86ad-442e-a321-978cd501d324 CAID:CA410676959 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen da530c48-3bac-458f-999d-be325bfee52a CAID:CA410676959 biolink:is_sequence_variant_of HGNC:4440 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8dd74e1b-8073-4d3f-8b80-d855f6aa451f CAID:CA354447789 biolink:causes MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8e3782c6-11a0-4225-87ef-2e27f92558d2 CAID:CA354447789 biolink:is_sequence_variant_of HGNC:4444 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2442d2cf-501f-446a-9165-f6eca7d98c31 CLINVAR:1691236 biolink:genetically_associated_with MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3440e7d0-1475-4954-9784-ad465e351fb0 CLINVAR:1691236 biolink:is_sequence_variant_of HGNC:4444 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4db6d7ff-8d95-40f8-8736-9974c439ec95 CLINVAR:13529 biolink:causes MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6515d724-f2b1-4241-8471-b2b8d88cb660 CLINVAR:13529 biolink:is_sequence_variant_of HGNC:4444 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 77c654b7-b108-4faa-891e-810da5b69d94 CAID:CA658760369 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6d3303e3-cb87-4ce3-b749-e4260b3daf6f CAID:CA658760369 biolink:is_sequence_variant_of HGNC:4444 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ec1c509a-13be-47d4-be2e-f2da0ce0a708 CAID:CA354446617 biolink:genetically_associated_with MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 29878069-b79c-45d9-8bc7-12400439de21 CAID:CA354446617 biolink:is_sequence_variant_of HGNC:4444 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 26a0894f-94ae-41de-8025-1ed4391b91df CLINVAR:627075 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen bd45e0f4-5e54-4ebc-87f7-d267e1d02be0 CLINVAR:627075 biolink:is_sequence_variant_of HGNC:4440 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 40bf8d8c-fe1e-4063-9311-37c6661c5ef6 CLINVAR:812970 biolink:genetically_associated_with MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 233e014f-6eec-483c-a1b5-fae3ed741d62 CLINVAR:812970 biolink:is_sequence_variant_of HGNC:4440 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 53828eba-914e-48f5-91e5-0285ab36dd21 CLINVAR:16038 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9fb2583c-e306-48e2-89bd-041102fbfe4d CLINVAR:16038 biolink:is_sequence_variant_of HGNC:4440 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6961b95f-7e55-40cc-bab4-1102e3871212 CLINVAR:872581 biolink:causes MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 94faeb11-938f-4c21-997b-d217c3b522ec CLINVAR:872581 biolink:is_sequence_variant_of HGNC:4439 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d00d4ca9-dd39-4782-a81d-5eef8c689ec8 CLINVAR:2736403 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b21e5085-e1da-4f0a-91b6-c7c5daf7a4ba CLINVAR:2736403 biolink:is_sequence_variant_of HGNC:4439 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen afbd5ae9-b14b-40f2-8cca-12936f47708e CLINVAR:523620 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 16a7ef4e-e807-474a-be19-85abe9403309 CLINVAR:523620 biolink:is_sequence_variant_of HGNC:4439 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3372b1d2-386f-45d4-85df-4057f534210d CAID:CA410676856 biolink:genetically_associated_with MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b55ca5a0-a66b-479c-b887-0f4eb94be5d5 CAID:CA410676856 biolink:is_sequence_variant_of HGNC:4440 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bc19d5f6-f882-49ed-94b0-2dbe4513b849 CLINVAR:627320 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0b9ebdd1-935f-4df8-99c9-6ba48efcee23 CLINVAR:627320 biolink:is_sequence_variant_of HGNC:4440 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 86cead1e-8d8a-4eb0-b758-1d97f6bf70bc CLINVAR:1691254 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen de69fd3b-8add-4dcb-96a6-2e244b7addc7 CLINVAR:1691254 biolink:is_sequence_variant_of HGNC:4440 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 42716507-ce28-460c-bac6-3c656ba9e01a CLINVAR:1342712 biolink:genetically_associated_with MONDO:0100038 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8430f7cd-9519-4c4e-85cb-2f8c2fe6ea23 CLINVAR:1342712 biolink:is_sequence_variant_of HGNC:10588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8ac4922d-bcc2-4c70-9119-4559d4caf912 CAID:CA349036828 biolink:associated_with_increased_likelihood_of MONDO:0100038 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f94980ec-c97c-4ead-90d3-41b18c600878 CAID:CA349036828 biolink:is_sequence_variant_of HGNC:10588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 95f136aa-3333-46cf-9445-366e385666b1 CAID:CA349036836 biolink:associated_with_increased_likelihood_of MONDO:0100038 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 901d0a32-4f69-4fcb-8cbf-6b9a8bd6f4a3 CAID:CA349036836 biolink:is_sequence_variant_of HGNC:10588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3f74ae17-6273-4bf5-846a-fd7a4344944e CLINVAR:383825 biolink:associated_with_increased_likelihood_of MONDO:0100038 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 998a4a02-d043-45d2-9b41-030b46b55a5b CLINVAR:383825 biolink:is_sequence_variant_of HGNC:10588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e932f696-b5d0-4809-8bf9-899bdd46f5ba CAID:CA343772421 biolink:genetically_associated_with MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 34f82e42-170d-493e-b812-ce23b2ba389e CAID:CA343772421 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 28bd10c6-6de5-4dca-97d5-262ea5956dbf CLINVAR:627231 biolink:genetically_associated_with MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d518709a-f72c-405e-9652-40a744bcd75c CLINVAR:627231 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0d4f1de9-bf82-472a-b61e-92eac9c00bbf CLINVAR:1127805 biolink:genetically_associated_with MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a5e7a171-d331-4ac2-8a9b-f0c2f96a3f40 CLINVAR:1127805 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 325026c3-b4d5-418e-9ada-8a569e4499ae CLINVAR:18045 biolink:causes MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 63e09ed2-72eb-4dce-a222-d9c10c91362a CLINVAR:18045 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 07e03b1e-a6dd-4549-8fb1-f339d847ff73 CLINVAR:440643 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 21fab5e9-51e4-4c95-80a9-6e0c6640872f CLINVAR:440643 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 78f7b75e-4177-4bea-8a8f-6ecfd4ccfa19 CLINVAR:992900 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 86710780-55ad-4f46-b69b-cb2a699faf1c CLINVAR:992900 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6f6d9181-2d8e-4494-86fb-6c5d3075d09a CLINVAR:251840 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 254228b8-633c-491d-8203-6ef765c1db47 CLINVAR:251840 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 739ab80a-2115-400e-bc26-e95a9d70200e CLINVAR:36456 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4ebef3dd-8e20-4a5c-8ce1-c0111ecbe265 CLINVAR:36456 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 788760c9-52e2-429c-95d3-85a80999eaf9 CLINVAR:183113 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d7e7eea7-a86e-4f8c-9ca1-0b76f3849ab1 CLINVAR:183113 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0215f3f7-9392-4e8a-91ad-16735e4ceaed CLINVAR:1078477 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9c353aa7-a15c-4b1a-b949-1ed224b4d518 CLINVAR:1078477 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3ff14402-86be-42bf-8f29-831cd4cbe6c8 CLINVAR:571484 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen beeba0d1-01e3-46c4-a5b2-27f93c840525 CLINVAR:571484 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b451f604-b421-457b-890c-24d211b6af27 CLINVAR:3157196 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e5dcd4ab-1467-4fd3-9eb2-bd798c6555aa CLINVAR:3157196 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2b917c54-44af-45b5-9f40-580532849492 CLINVAR:3368645 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen cb93ce21-5307-463c-a41c-49d31d3a0455 CLINVAR:3368645 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d623d4ab-0df1-4f3a-ad9b-fc89293165fd CLINVAR:3342374 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5d838ae1-076f-4f25-8191-bb47f47cf3d6 CLINVAR:3342374 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cc1b80d5-732c-43d7-aeaa-58635851b69e CLINVAR:2121324 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d3c05627-b890-4dd6-9f44-f5eb11ef9942 CLINVAR:2121324 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c2096059-6e06-4544-8be4-2d7042cc52d8 CLINVAR:3377307 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 04164ae8-c7ce-436c-bc7c-c965e1b4cd4b CLINVAR:3377307 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1d5c7f0b-44de-41b2-baf6-b1bbbf726a71 CLINVAR:324989 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0c44e536-bc58-4eaf-a61f-a97bc1129a3e CLINVAR:324989 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6c529e65-180e-4477-b0c4-50e1d711fc26 CLINVAR:3240389 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f8bdea33-a502-4d11-9882-41c9e08e3334 CLINVAR:3240389 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 421ef120-eb98-4e29-b565-84bd2f64ab7b CLINVAR:898858 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6ebf52cd-ae86-4c3a-928d-b184772dcc31 CLINVAR:898858 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7ad7f1fb-143a-45cd-aa00-d21e23e23f5c CLINVAR:933316 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b6f18512-a6ed-4bc9-bc9e-793d83b62f62 CLINVAR:933316 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c3c9ff43-efc8-4af1-acf4-6d65b53ae35e CLINVAR:3370796 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 35905dc3-b35d-4d16-86f0-3a0cae137128 CLINVAR:3370796 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 09adc926-b025-4e62-87e3-bfd8c7ffe583 CLINVAR:3003823 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 37f8cd34-73fa-4111-85be-626ddd101476 CLINVAR:3003823 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8589878c-e6d9-4e7b-abd5-2724580c8111 CLINVAR:1477479 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen cdd5f108-9b9b-482d-8f28-22fc779fa826 CLINVAR:1477479 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d3373d37-6f95-4f7a-80b4-b9b43e852fdf CLINVAR:1012031 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0fd429c4-06ff-4ae6-bece-a9d418edaec7 CLINVAR:1012031 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 78d8d7c5-7e41-458c-8b98-e5a9864eb7c2 CLINVAR:3436404 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4057fff0-33ff-4fce-bf85-d37cc71843c6 CLINVAR:3436404 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7d0e1cc5-6fc0-4905-86d5-72e99a0bc0ec CLINVAR:3365708 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0b9c978c-ddb0-4920-a2f8-75c8e7cebf0e CLINVAR:3365708 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b7c45017-a82f-4a8c-94d5-eaa16d649d81 CLINVAR:3257846 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 67ee72bd-8912-437c-828b-b3bd06325de0 CLINVAR:3257846 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen efee7338-53f6-49a1-996a-5dbb087dbd2e CLINVAR:1142095 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d263a697-338b-45a1-8b78-6b03adec9f80 CLINVAR:1142095 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5f7fb050-09f7-4931-9c6a-17e1d7cdaecd CLINVAR:1290150 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 45d63e4c-e212-4f32-9b27-f093f34a12a9 CLINVAR:1290150 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6f021a49-abaa-4e3f-832e-5c7f3a19e5b4 CLINVAR:633286 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3ce9da83-18c1-447b-be5d-4b0afd98d0b9 CLINVAR:633286 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d06ca3ce-6a8f-404a-b760-af853ba7579f CLINVAR:927821 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6894f586-1bb9-4b75-b011-ade1802ee280 CLINVAR:927821 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e4bc862d-f95d-492d-8213-f3985d35c2c6 CLINVAR:431516 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen eea813fd-1c7a-4b2e-93e2-1a660108c36e CLINVAR:431516 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ecb5b35f-221c-4ac0-a213-cf0e97f98cfe CLINVAR:251492 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 69da708e-9572-4494-8ea2-07e524610e5d CLINVAR:251492 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f67fd319-81cd-47d3-95b9-5aa4d18e51f4 CLINVAR:2010905 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5cf109b2-b4f6-4aa7-a6aa-94526625c7a6 CLINVAR:2010905 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7c4effc5-323a-4f5b-9d11-444ce2aa7e52 CAID:CA2797727079 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 002d8da6-c7a1-4de8-970d-b3b8e28ce36e CAID:CA2797727079 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 574bccba-123e-4504-921a-5a026594166c CAID:CA386958942 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen dc9145b7-2c59-4be3-9ce4-2b6b8c726aa9 CAID:CA386958942 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 68b1ccfd-128f-4e21-bff0-462320a95173 CLINVAR:2575051 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 88ebf888-9a5f-4bf1-9538-b8daf31cf107 CLINVAR:2575051 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2b021edf-1fbd-44a0-806e-c966a9a4fd01 CAID:CA2018007654 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 64d584fa-f28d-4ccc-b779-41ab8a03fd28 CAID:CA2018007654 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cb880682-8652-49d3-b8d6-01f8dd044736 CAID:CA2018007655 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 03dca51a-c857-4431-a12c-573c33a29f31 CAID:CA2018007655 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6b745b2c-a483-4674-b925-100c2a51f590 CAID:CA315408883 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 635e54af-4829-4b4c-ad50-e2e72d1c653f CAID:CA315408883 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8d5092a2-ca99-4dca-981c-56e6b75c4bff CLINVAR:804916 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 710e70a9-0369-45db-93ba-08af8d53983d CLINVAR:804916 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 59db6fad-e3ae-4997-ad92-f7a4c2198f25 CAID:CA315420234 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen da192b13-0e61-4a21-9203-6b0e4bf88447 CAID:CA315420234 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b7e7d95f-9868-4db5-b419-5d4e0e502d4b CAID:CA367358198 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 098fdb3e-fa75-492f-8e7f-7df1c2a35f28 CAID:CA367358198 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen edb67d51-f3ca-4512-919a-7677b8dbc809 CLINVAR:129144 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 39699dba-5557-45d7-bca5-6d5ede241ba8 CLINVAR:129144 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c25616e7-541a-4f41-b1fd-e67e4f27a1bb CAID:CA367403318 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen fa0b95ae-e3af-4cd8-969a-9d062daac99b CAID:CA367403318 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 69d3b732-f97a-4f8a-b2b1-90e7387e5387 CLINVAR:418225 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d13e87b6-2ef3-4356-aa1b-45d3b136250f CLINVAR:418225 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6a9f8788-b560-4211-a195-11f4073b21a7 CLINVAR:377026 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 352b1f95-393c-4d44-8a89-1395ab165ab7 CLINVAR:377026 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b085d3a3-83b0-4482-80ac-70dcfed567f1 CLINVAR:196223 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8d979127-7313-40df-903b-b984b5f8a255 CLINVAR:196223 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0f9c4e12-5ecb-4fc6-8ff1-cbc63f82602c CLINVAR:498567 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a0f4a10b-b436-42ba-84de-67e85e771855 CLINVAR:498567 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a35646e6-3a80-45be-b805-9484e591876a CLINVAR:1065143 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ae87a26d-1930-474f-bce4-876fe189cc5b CLINVAR:1065143 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 344853d6-386e-455c-9bf1-6e89f923d151 CLINVAR:370146 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ff4a2252-c28d-473c-b49c-db391817ab8d CLINVAR:370146 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ad9f920a-96c3-4cfd-830e-afdfde530dae CLINVAR:371281 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e2f08d8c-499b-49e2-bf44-9fac69d89d1c CLINVAR:371281 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b0120a90-8e38-466c-b22e-a6b7d0aa8f7c CLINVAR:189040 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen dc826956-fb23-486e-9494-58f4109b0488 CLINVAR:189040 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6348164d-5b54-444b-99e7-3f5b1f1a2a49 CLINVAR:556386 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f3a99213-8e74-4df1-a8b5-988591fb6488 CLINVAR:556386 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b2c82656-305e-498b-bfc7-979a01fa100f CLINVAR:370222 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b8eb90e3-f958-45ea-8ffa-ccf7b91dbefc CLINVAR:370222 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 112261fd-e1ed-45b8-84cb-ac9bacae62aa CLINVAR:284776 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6ef2f307-6df3-4cfc-8a97-9633a040d810 CLINVAR:284776 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8892ea70-cc1e-4865-af74-eda231b3ed3d CLINVAR:953728 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c247c597-8c55-4021-bdb8-8016953abd89 CLINVAR:953728 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c8bb6bd4-1249-4678-980a-eef7d5fe8d80 CLINVAR:972793 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4439c4f2-2507-4d75-9cbf-f382f9d315a2 CLINVAR:972793 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a2ed7907-0309-43f7-9606-12f1ff6d2132 CLINVAR:982495 biolink:associated_with_increased_likelihood_of MONDO:0008535 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8d9716ee-c112-40b4-9c7d-8159595ba66d CLINVAR:982495 biolink:is_sequence_variant_of HGNC:3349 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 478e879e-439f-4a0d-8eef-1d3c94c5c13b CLINVAR:528065 biolink:associated_with_increased_likelihood_of MONDO:0008535 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 077344a2-5630-4577-a661-11ec7ce5e60c CLINVAR:528065 biolink:is_sequence_variant_of HGNC:3349 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7acd0207-fa42-45ad-928e-c8bb969e906a CLINVAR:533345 biolink:associated_with_increased_likelihood_of MONDO:0010880 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f2281bb5-a02e-42d4-876d-6ad2e39451d7 CLINVAR:533345 biolink:is_sequence_variant_of HGNC:175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 64561169-3416-412d-be54-d5c285484e47 CAID:CA355961228 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ee5637a8-b344-4d54-a2fd-86a8a841428a CAID:CA355961228 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b4607508-f473-4cd7-a5e2-9d7534b33f69 CLINVAR:222997 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1a0c147b-fb37-4926-8290-3925471e0923 CLINVAR:222997 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f46055b9-575c-4378-ad5d-f1477f35146b CLINVAR:556064 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1bc4e28d-8105-4b4a-b8ce-684dae8d4da2 CLINVAR:556064 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fe938413-3b70-4f64-9a8b-5dc0ab57315d CLINVAR:551966 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e080c940-a7f2-4381-8866-3f9f30cee284 CLINVAR:551966 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7cbdffdf-6366-47bb-9a83-c1a8834953a8 CLINVAR:1683229 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e4fb7103-deb1-4de6-be8b-56675e589aa2 CLINVAR:1683229 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aca8407d-f5a1-446c-84fb-560c08913b12 CLINVAR:556358 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen fd9a9cc2-695a-4be5-a072-b0ecbdb25702 CLINVAR:556358 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2d867250-fc90-448d-a898-8b7aeb165eb1 CLINVAR:950888 biolink:associated_with_increased_likelihood_of MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 12e26ac1-da0d-49cb-8cfa-1233d5d15fa3 CLINVAR:950888 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 131d2363-d596-4957-8a87-266602e07fd4 CLINVAR:550474 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen dab0510e-7cfe-4fd1-aade-bad03c49d765 CLINVAR:550474 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b2faac41-72f2-4117-bce2-d265fb44a3c9 CLINVAR:226360 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7c12822d-619a-4a35-8a1c-d25681d3e44e CLINVAR:226360 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 43350cd9-1c64-4333-abf8-df47504b0b42 CLINVAR:251896 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e82de002-1d59-4862-b197-083fd6d718f1 CLINVAR:251896 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d31c6394-c7d3-4fd4-a57b-495f0427b1e6 CLINVAR:224617 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5deea3e9-00bb-492c-a1e8-f6a5a901617a CLINVAR:224617 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3c5623d8-2201-4dd6-a8a0-fcf2a371240e CAID:CA400029776 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d4eb037f-9fae-45d9-ad91-054314b03e0d CAID:CA400029776 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 039650b4-4868-4919-a82d-796107320791 CAID:CA2695224149 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f295b4d4-64c9-49ae-9cc9-bff338952915 CAID:CA2695224149 biolink:is_sequence_variant_of HGNC:4439 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ac4385cc-6e06-42e5-a13a-b5f3c0c5ff5c CAID:CA2695224151 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 40e6a856-e14c-4a63-bcbc-17db339f4d8d CAID:CA2695224151 biolink:is_sequence_variant_of HGNC:4439 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b5139d8e-9b5f-453c-9b77-37b41362846f CLINVAR:13533 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen bcc188f9-1741-4e38-9864-467e9230a55a CLINVAR:13533 biolink:is_sequence_variant_of HGNC:4444 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 59910afa-6b93-4b26-84e0-9d01c057ce89 CAID:CA2580060377 biolink:genetically_associated_with MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d16c01c3-5900-427e-b928-abc9288fb995 CAID:CA2580060377 biolink:is_sequence_variant_of HGNC:4440 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aebb0ecd-df39-4050-9df2-fbecf11f1fdd CLINVAR:900153 biolink:genetically_associated_with MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b5476284-24d6-4492-b1b1-d5d44921098e CLINVAR:900153 biolink:is_sequence_variant_of HGNC:4444 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9d482c72-eba7-4051-a602-94cbbc4f6a66 CLINVAR:503800 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ba49ec8b-8c4c-477e-bdba-aa08f8575c87 CLINVAR:503800 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 66bdb045-6dbe-4a79-9fef-cf76cfa61046 CLINVAR:1455030 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7c6e8e24-0cf7-431c-b422-684881abe959 CLINVAR:1455030 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 55479291-83e1-491c-9648-2182c1dc7752 CLINVAR:280068 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 841b1061-eb63-4830-98b3-8982a695aeee CLINVAR:280068 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 43823cfd-36f9-42bc-9ae0-289d5ee79433 CLINVAR:242418 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2b4f8b7e-c2f1-4deb-87e4-cef3b6504e8e CLINVAR:242418 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dfb7d588-e91f-48bc-bfbd-324bc1ee9ca9 CLINVAR:2203089 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3b77b214-73ec-4528-9a56-4d1a5cef2f46 CLINVAR:2203089 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a919e89b-e5e4-4587-9f6b-92aaa0de296b CLINVAR:94351 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7484e75b-4df8-4390-8dc3-3def229587ae CLINVAR:94351 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1e5cff5d-467a-4d7d-a3cf-5e77c234580d CLINVAR:2100759 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 78eeeafe-3eb6-4051-ac5a-4881e4d0aeb2 CLINVAR:2100759 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 34f79632-4f38-44ab-a88e-ec843b1824dd CAID:CA2586969535 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9743b83f-86e6-4fc0-91c3-ee241fb017ae CAID:CA2586969535 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 90024add-f084-4bbc-b20e-08a3db44ce77 CLINVAR:488834 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1d011d0a-accb-4cc8-a500-c32e29506bc5 CLINVAR:488834 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 12dc3517-e02d-4249-9703-319a8bee39cb CLINVAR:500214 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b018370a-9c8f-4886-9a62-897c57c6d1c0 CLINVAR:500214 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4a0ea589-d40d-4f8b-8b37-da594a9c1552 CLINVAR:852860 biolink:genetically_associated_with MONDO:0012589 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8dd8b43e-ac4b-47a7-8e5f-5a0d5cf93e22 CLINVAR:852860 biolink:is_sequence_variant_of HGNC:11634 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2a55dba7-fb49-40d0-a6f0-e2b2864c3606 CLINVAR:251763 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e202a8ba-4220-45bd-97e7-9dd5990de6fe CLINVAR:251763 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fe7407ea-b251-468b-94d5-5e75011c5a7b CLINVAR:1120245 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d8a10ba8-122f-4382-8fc7-b48a9a00dc66 CLINVAR:1120245 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1f84f031-1602-4c64-9c40-71d569712715 CLINVAR:200922 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d0fb0594-8265-42ad-af82-c04968cccb2f CLINVAR:200922 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 78200362-2bde-4afb-bedc-0005a80c6172 CLINVAR:252112 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 060f16b3-9af4-4caf-86a4-8372c0b29457 CLINVAR:252112 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d74557d1-b225-4eae-8fb3-410866c7d974 CLINVAR:406166 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 20b6f2d1-0898-4174-b4fb-e164ba3ee051 CLINVAR:406166 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bdb62d80-834d-4fd3-b66a-9f9876f8b7b2 CLINVAR:403662 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0d5db05f-0c98-481b-ae6f-cd26a33e06f3 CLINVAR:403662 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fc3ba8d8-86b8-481e-9663-cd38ad3414c7 CLINVAR:627156 biolink:associated_with_increased_likelihood_of MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e618f1aa-4429-48de-9544-00a68a8ff1ca CLINVAR:627156 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f2f89569-8f6b-45d8-a3a4-8da7afe18e20 CAID:CA915940889 biolink:genetically_associated_with MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 111c438d-b172-42d0-8c1e-93727a249fda CAID:CA915940889 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d3ada607-eddf-46ac-a3fe-0c4caab98dac CLINVAR:439683 biolink:causes MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a7905079-02be-4d15-8ad6-4f0a2760ca49 CLINVAR:439683 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 75dc8d79-f4a3-4390-a0a4-ff0170c63802 CLINVAR:10624 biolink:causes MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 933db278-e44a-4060-ac23-6afc9c8b9fc7 CLINVAR:10624 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2d32dbf4-41a6-4f3c-a298-36415398c468 CAID:CA414914394 biolink:associated_with_increased_likelihood_of MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 46cb3466-8a87-43d0-9b5e-4a938e86315a CAID:CA414914394 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f98a478d-19ed-4dda-849e-37e8f7741166 CAID:CA414914392 biolink:associated_with_increased_likelihood_of MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d14c568e-081c-4120-a4a8-ac3366493eaa CAID:CA414914392 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 51752cbd-6a2f-4350-a2e8-a23d01566620 CLINVAR:2691907 biolink:associated_with_increased_likelihood_of MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8ebdbb4b-598e-4352-979b-5a198bdd2e4d CLINVAR:2691907 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9b0cfda0-00af-4a23-8538-fe0c55e1835c CLINVAR:11915 biolink:associated_with_increased_likelihood_of MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 80913fb7-ee0a-4854-ade2-a7bd0073296f CLINVAR:11915 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e17f7271-c0b1-465c-80c4-d4e98846b464 CLINVAR:552333 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a5245c81-85d0-406f-bf2f-22ad1aae68df CLINVAR:552333 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c154028b-119d-42a9-b44b-97151a1be68d CLINVAR:555490 biolink:associated_with_increased_likelihood_of MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3557df31-ea79-4a94-a910-db46dcb7fe61 CLINVAR:555490 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e404e6e1-fcc9-4499-a10d-d77eab06939a CLINVAR:9725 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 53b3bd97-a6f1-4ad7-8311-816cff6cafcf CLINVAR:9725 biolink:is_sequence_variant_of HGNC:7455 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bbc295be-ec13-4f26-a344-6620c9b825eb CLINVAR:9603 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e4e9494f-95d0-4c57-a326-3d046c62cc51 CLINVAR:9603 biolink:is_sequence_variant_of HGNC:7488 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 20e01ecf-f2b3-4cc3-9be8-321b0c63e64f CLINVAR:544259 biolink:associated_with_increased_likelihood_of MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 316f6a95-57bb-447b-9410-e779672d2d98 CLINVAR:544259 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ceebd6f9-52a7-4555-87bb-e02cd49d6fa2 CLINVAR:1139929 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen bd1e48bb-6425-43a0-916b-c3d3e0ee55ea CLINVAR:1139929 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 21495b93-4be1-4aa4-a158-49b6ee2a92a6 CLINVAR:7282 biolink:causes MONDO:0018947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 983ed9ab-dd74-4663-8f8a-902b6a2226fa CLINVAR:7282 biolink:is_sequence_variant_of HGNC:2974 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3a49a4de-a8ed-4e96-98fe-ca9fd4d1c1ba CLINVAR:558189 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen cd879297-78a5-42b6-92ff-ac452ed1fccd CLINVAR:558189 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4fb02795-f78f-4e63-a955-855aba3e0eec CLINVAR:242721 biolink:associated_with_increased_likelihood_of MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen fe83d7eb-8d3a-47d4-9dfd-2f9694238393 CLINVAR:242721 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6c8c0758-ac9a-47dd-92d5-d6d2f3cc2a4e CAID:CA2573332240 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 621866d5-91b2-4233-9d8e-945162c504fb CAID:CA2573332240 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 37a69735-4c5d-4c98-aa8b-ad90a410b4a6 CLINVAR:550883 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0eb78a95-0da8-4ec0-b54e-c130c1871c4b CLINVAR:550883 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9a515040-3032-400c-8189-dd503a1351a9 CLINVAR:456720 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2e019d50-9f18-4eea-b7fe-260e684c36a0 CLINVAR:456720 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eca6f63b-be4c-4129-a553-d773a40e8e72 CAID:CA355965290 biolink:genetically_associated_with MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b011c551-1635-465d-8be4-62d8f2f04d9a CAID:CA355965290 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 61be46ad-073d-4fc3-9f92-aebcb71f393f CAID:CA2580618260 biolink:genetically_associated_with MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 80fbcba9-6d8c-40e5-8053-43b214a482bc CAID:CA2580618260 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 756fc3de-8a8b-4452-865d-c927edb3d9b3 CLINVAR:11921 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8453ca5d-a4bc-4618-8fe8-e220d71cc347 CLINVAR:11921 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 53d69760-4c79-4422-aa7b-78a9fdfc2ef9 CLINVAR:9657 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 446d10b5-4041-4b2d-b4aa-192bda63c53c CLINVAR:9657 biolink:is_sequence_variant_of HGNC:7422 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bedd2bf8-9d9b-467d-855b-bc6ddfaaed06 CLINVAR:9625 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 85feffa3-4c1e-4015-9fdb-bb04af017792 CLINVAR:9625 biolink:is_sequence_variant_of HGNC:7475 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b2ba3235-7450-495e-91e8-4d0a30fa39d3 CLINVAR:430688 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9d865f3b-00b5-45f1-8704-37353d46c842 CLINVAR:430688 biolink:is_sequence_variant_of HGNC:7491 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 647af677-5f19-4bfe-9224-f4b7f7c95466 CLINVAR:689933 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 312b9b72-a407-4845-9f7e-409122bf6558 CLINVAR:689933 biolink:is_sequence_variant_of HGNC:7501 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 08eddefe-1e0b-486a-875c-8960325275bb CLINVAR:689935 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9c333ffc-a0a3-44ed-8bda-b8d387ece9dd CLINVAR:689935 biolink:is_sequence_variant_of HGNC:7501 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 86e9a23a-2cf5-4ba2-8ac3-e250ac59ce6a CLINVAR:984179 biolink:associated_with_increased_likelihood_of MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6268d91f-a251-46a1-bfec-08c8d3912cc3 CLINVAR:984179 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8f945372-c8bf-42a7-bdf1-64cfdca7095a CLINVAR:557942 biolink:associated_with_increased_likelihood_of MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d6d5e41a-4dc8-4f7d-af60-f22ab7f21083 CLINVAR:557942 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d3780c54-b82c-4617-b9fc-a76a17a99b37 CLINVAR:1162140 biolink:genetically_associated_with MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d05d26a8-e81d-4b9e-9e42-f854a397cdab CLINVAR:1162140 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a08518d6-0d41-46e0-a397-a09dd607dfa5 CLINVAR:496861 biolink:associated_with_increased_likelihood_of MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c0b89ae4-8b45-4e05-b833-369feb58032c CLINVAR:496861 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 751a65b5-d422-4257-aee6-5e121e27b37d CLINVAR:1523621 biolink:genetically_associated_with MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 00e9c9b2-75a3-4f68-8126-e3ead08ac856 CLINVAR:1523621 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a790103c-e688-487a-b177-5c5f6ae535be CLINVAR:2961353 biolink:genetically_associated_with MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 11cc37c0-1588-4f4d-86db-4baf29ce2705 CLINVAR:2961353 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 83f72a80-0c1d-49f2-8a7d-944a7d07cfa0 CLINVAR:2025155 biolink:genetically_associated_with MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 80918263-6df9-4969-be7a-d704c80e1f0b CLINVAR:2025155 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0eaf4a76-9952-45dc-a4cb-2b1616c8eb20 CLINVAR:167191 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 38dcf64c-9759-48c8-94dc-ef6285118c76 CLINVAR:167191 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c83d3c06-eb24-47fb-bc2f-c6e998ff1b02 CLINVAR:2203498 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ddfaf96e-fc6c-4549-b0ba-c278d196f5df CLINVAR:2203498 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 900691fb-f1a9-4957-aa9c-9fb396e5786b CLINVAR:373452 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b5fa94bd-3376-4816-b7e3-6a7e3431210e CLINVAR:373452 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b10533dd-647c-4668-a247-94b6f7095111 CLINVAR:567526 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 35966439-4633-4328-872e-632d6c25b967 CLINVAR:567526 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e3678712-801d-4f5c-9dcf-6e64c0c3ab34 CLINVAR:801414 biolink:causes MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b1620490-1432-4a8e-86ce-2540f3dd9317 CLINVAR:801414 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen df468ed7-d8bb-4ab8-b81d-2ac5b5ace94d CAID:CA9043555 biolink:associated_with_increased_likelihood_of MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 509f4a5c-e287-47ca-b7b9-c9dd931ad5a0 CAID:CA9043555 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 16109c7c-f137-49c9-bdfc-894e5dd364e0 CLINVAR:251427 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 144be328-9ae6-43be-930e-31ca93b13533 CLINVAR:251427 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2c188280-6317-426d-8ccf-2fcf4032af72 CLINVAR:251901 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ddb73c4d-af30-47e7-a6ec-8398734b3a3c CLINVAR:251901 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 935b0065-807a-4bd7-821a-7d7fa9405019 CLINVAR:252149 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 968f48a9-87b9-452e-88f8-ed4388ad491f CLINVAR:252149 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8fc6846f-7019-43ab-b58d-0ef65145ada7 CLINVAR:252152 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 551beea1-eff1-4f9d-91c2-ee5a25ca9007 CLINVAR:252152 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 66860cb2-04d3-413f-9788-cd680830104b CLINVAR:251656 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 16f2a995-5cb9-4776-9b3b-621d942ddd71 CLINVAR:251656 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fdb43e1a-079d-4e4d-ad89-1deed4f5fcfe CLINVAR:1967129 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 966868bc-34c2-437b-a920-9532de9ec1b8 CLINVAR:1967129 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5becb648-1471-4eb3-b614-c1b958f091b2 CLINVAR:251657 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8f4cb225-932f-42fe-aca9-18f416eed420 CLINVAR:251657 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b3e3f04b-2aad-453c-a3d0-6912c205336f CLINVAR:252185 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f7f350ac-2095-4702-bede-10b4e381d508 CLINVAR:252185 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 40572835-2a32-477c-b300-8cf36e1514a5 CLINVAR:161275 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e5812bdf-136b-4278-bf7e-5fbec8f58679 CLINVAR:161275 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9a47383f-07f0-4c2f-a8ac-01da30307c49 CLINVAR:251567 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 82143e05-dbff-4358-979f-6e4018fa6e3d CLINVAR:251567 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6889e933-25b0-44ca-b573-fce252f6c842 CLINVAR:475749 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8ab95daf-0aea-4b9e-87c4-adce38dff087 CLINVAR:475749 biolink:is_sequence_variant_of HGNC:11188 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen adde8103-2ca7-494b-94f4-930d381074fc CLINVAR:421233 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen cf77dc85-262d-4dc0-8141-2e006e1459b9 CLINVAR:421233 biolink:is_sequence_variant_of HGNC:11188 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2bcb9a93-f05e-4149-b552-201cd18b9e92 CLINVAR:376857 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen efd103c4-6a22-411e-8482-c499f0fee143 CLINVAR:376857 biolink:is_sequence_variant_of HGNC:11188 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 993c6cd3-f03a-40ba-9398-553ea6696e8e CLINVAR:635783 biolink:associated_with_increased_likelihood_of MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 95fb5199-d399-4441-8e58-6def5e44bcdb CLINVAR:635783 biolink:is_sequence_variant_of HGNC:7227 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b1ecdeb1-62fe-44e7-850b-f2d247d57134 CLINVAR:254653 biolink:associated_with_increased_likelihood_of MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen bbeff162-caff-4737-b5e9-8043d0f66cda CLINVAR:254653 biolink:is_sequence_variant_of HGNC:9282 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4c738936-bee6-4d53-b103-c3a938599ae3 CLINVAR:254651 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a6df87ae-1351-424d-9ab7-419fca7b0ee3 CLINVAR:254651 biolink:is_sequence_variant_of HGNC:9282 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2a5c9d28-3e2f-431f-a299-52ac0b7b91b6 CLINVAR:254652 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e5231ea4-31f3-4cc9-b313-d1bb3648ea87 CLINVAR:254652 biolink:is_sequence_variant_of HGNC:9282 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 193f8ff4-567b-4f75-808e-9a5300c02a0b CLINVAR:1466744 biolink:associated_with_increased_likelihood_of MONDO:0008535 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f21f88ba-348c-42dc-a36a-6d061c8f2325 CLINVAR:1466744 biolink:is_sequence_variant_of HGNC:3349 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen efbad702-0aab-468d-9272-6795ab97e1ed CLINVAR:430375 biolink:causes MONDO:0008535 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen fba646ed-efe0-4d3e-9d84-a6634501528c CLINVAR:430375 biolink:is_sequence_variant_of HGNC:3349 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 84ae135e-a89c-4c8a-8093-bc7409cf7a94 CLINVAR:3587669 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6948a049-4093-44fa-a9e5-188b097f60ab CLINVAR:3587669 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 506888e4-2619-4f53-a174-3ad0bb9edf67 CLINVAR:3342643 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ff8ab6f8-9ed0-4852-a84d-c83e684a77ed CLINVAR:3342643 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eb1a4d9c-6af6-48ec-93c4-31a101e4abc2 CLINVAR:3365552 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 32a6b7ea-c19b-4ee6-9e8c-a36aa2638d34 CLINVAR:3365552 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a258fb5f-cef8-4399-b55e-e2aa8183d3ed CLINVAR:2730693 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 541ecb06-d4af-49b4-be4e-cb5d26b3bc04 CLINVAR:2730693 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6f0533f2-19b6-4248-995c-2da645677715 CLINVAR:3367906 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f2cbf2f7-79f3-4b5b-bb65-e889f17f868b CLINVAR:3367906 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5de134ee-0d97-48df-be10-4af9fe60f436 CLINVAR:3766477 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen debe3f6a-8795-4649-9ed6-98128953e464 CLINVAR:3766477 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4c27f049-4ad6-4977-9feb-657ce71e549d CLINVAR:1878806 biolink:associated_with_increased_likelihood_of MONDO:0100040 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 369bac5f-a132-4ce6-b7dd-6f67008ee193 CLINVAR:1878806 biolink:is_sequence_variant_of HGNC:3811 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c8188144-5f75-4e53-b9c0-06af31b3e2fc CLINVAR:143761 biolink:genetically_associated_with MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fdeda039-58e5-485a-866a-8609af617d7d CLINVAR:143761 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 39c8bf87-ade5-4238-84b3-681d4afa35da CLINVAR:3436407 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f9f502cd-09ee-4325-9023-0581ebe102ea CLINVAR:3436407 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 72d9cbde-0614-4cb5-838a-bedbd050133f CLINVAR:3624665 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7cdcb6d1-4ea8-452b-ac2f-7e03fafdbf78 CLINVAR:3624665 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 849e5b67-884b-4cf1-8d5c-921907fc2994 CLINVAR:3436402 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 78e89abc-af3f-4f5a-a967-1620ff496e3d CLINVAR:3436402 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0ffb5971-2ba4-4ed0-ba2e-591c05023328 CLINVAR:3607919 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 54ee6995-452d-458e-8b88-221fdf98a758 CLINVAR:3607919 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0ca30e64-69c3-425f-a965-de9c9d638a73 CLINVAR:3363507 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 85f59721-d8c9-4d52-be0d-acd78d6cddbd CLINVAR:3363507 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b837aa09-f038-47ed-8232-0086d3c8650c CAID:CA410203973 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen cec0aca7-19f1-4da6-8806-f2d0fadfaa1e CAID:CA410203973 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 67ba3d85-9327-4d6c-895c-c528072d006c CLINVAR:3436409 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4f0487b7-329f-434e-a15c-3c540fc0041b CLINVAR:3436409 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c9431c64-d950-48c7-a44b-7b2e380fff0f CLINVAR:947774 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5991bba9-0133-4172-8cf8-702348b16231 CLINVAR:947774 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 69bb1237-061e-4014-83a2-21504cd374a5 CLINVAR:3603866 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 896372bd-6295-4d09-9fa8-9ddd21f39969 CLINVAR:3603866 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 43ebf516-77e4-4be1-bd83-6fac00bf2970 CLINVAR:3240392 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d8f8a847-44e7-4634-b414-f5d5432b7471 CLINVAR:3240392 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fc182570-7444-4406-9900-057a073d1d61 CLINVAR:3068261 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8664be10-841b-489e-96cb-365a03a20f03 CLINVAR:3068261 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 86a4d74f-c49b-477d-815d-65d244cceacb CLINVAR:943098 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2d1a1535-8a2b-45f9-bb72-74f4aed393f0 CLINVAR:943098 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6d639329-5da1-4b97-a6bd-21dddd3dc7d7 CAID:CA2695237640 biolink:genetically_associated_with MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 54ece568-9964-4248-b632-2e00fa4d5657 CAID:CA2695237640 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bb143031-d2e4-49c8-846a-94daeb9342fd CLINVAR:143316 biolink:genetically_associated_with MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen caf1830f-6fed-4ed8-98fe-d629486993cc CLINVAR:143316 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 94d412db-6cca-4c38-842b-bb25a379ba95 CLINVAR:2443586 biolink:associated_with_increased_likelihood_of MONDO:0100040 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 93906509-7f68-4c88-ba6e-92688e883834 CLINVAR:2443586 biolink:is_sequence_variant_of HGNC:3811 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 94344642-6b8c-4dfc-9e5b-66d597489227 CLINVAR:654655 biolink:associated_with_increased_likelihood_of MONDO:0007113 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 29237b17-5533-4eb9-92e3-f00ca703fed3 CLINVAR:654655 biolink:is_sequence_variant_of HGNC:12496 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 65b625ca-5252-4d16-afc5-5d267ef45b6f CLINVAR:850287 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6752c8a5-84a3-4e2c-809a-8899cad86bdf CLINVAR:850287 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 46610c26-b9e5-4892-b775-f2c680465379 CLINVAR:236480 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7d77195f-a8e7-43c8-bcec-1563f0189926 CLINVAR:236480 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c71ce04d-1c23-4600-afa5-61221e59f88b CLINVAR:952461 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 52802ecb-cd69-4159-9ac8-e8d5866afa11 CLINVAR:952461 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d861cd2e-7f33-4e71-8f49-e960d68d4727 CAID:CA523302413 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 134dd07d-cb57-40eb-9c12-b0faca70b9d5 CAID:CA523302413 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen de08ce12-453a-4107-95c4-02bde16f84d8 CLINVAR:1470027 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6e5c0394-1368-4184-ba1c-fcd819f2aadd CLINVAR:1470027 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 22c22b99-b9e8-437e-90eb-5da9bbd56b31 CLINVAR:973954 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0ca5e417-e201-44b5-a696-c3ab9cc9e564 CLINVAR:973954 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ca1168aa-faae-4b20-8650-8bf1ee28e732 CAID:CA340741225 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5ceffc59-ec00-4a6e-a8fe-82cff8bac0bd CAID:CA340741225 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2f52e01f-cecc-4c03-9fba-3ec668c0d853 CLINVAR:1399221 biolink:genetically_associated_with MONDO:0007113 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 51f93eb3-ff45-4d25-a14e-209894e4d5ea CLINVAR:1399221 biolink:is_sequence_variant_of HGNC:12496 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0d5b32e5-37a2-453b-937e-ae914ca4a1de CLINVAR:374139 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8752a0d2-3138-472f-9856-a3dda5396e55 CLINVAR:374139 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b7d73ee9-95cd-40d8-af9f-d80f8880a216 CLINVAR:552059 biolink:associated_with_increased_likelihood_of MONDO:0018958 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 22cd1327-9c5b-4cf9-9f2d-49b9201902a1 CLINVAR:552059 biolink:is_sequence_variant_of HGNC:7720 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b8d84993-57b3-4883-a8f9-2876339443b0 CLINVAR:1364817 biolink:genetically_associated_with MONDO:0018958 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 25e0a9e2-ce4f-4010-b522-b20d24af05d3 CLINVAR:1364817 biolink:is_sequence_variant_of HGNC:7720 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 48555e19-272e-4044-975b-99709bbb72be CLINVAR:1177402 biolink:genetically_associated_with MONDO:0018958 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d431ebd7-4891-4442-8a6b-dce023564ebf CLINVAR:1177402 biolink:is_sequence_variant_of HGNC:7720 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 922a35ee-4136-4c6f-af56-12e493922915 CLINVAR:533979 biolink:associated_with_increased_likelihood_of MONDO:0018958 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4a1e6126-bb6c-45be-bb0e-e678245a3e99 CLINVAR:533979 biolink:is_sequence_variant_of HGNC:7720 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fbbe5c49-e7bd-44df-8735-e2a1183b4323 CLINVAR:530855 biolink:causes MONDO:0018947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 465bb240-a89f-4e1d-a2a4-43f6c3509b60 CLINVAR:530855 biolink:is_sequence_variant_of HGNC:7448 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6216c9dc-68d8-43e0-8657-401691daaade CLINVAR:158923 biolink:associated_with_increased_likelihood_of MONDO:0018947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8505d70f-14ef-43fb-8a77-3fc8d7cdb187 CLINVAR:158923 biolink:is_sequence_variant_of HGNC:7448 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 46bfc7a8-d66a-40c6-960f-59041ed6986d CLINVAR:164656 biolink:associated_with_increased_likelihood_of MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen fc8f69e6-2d9e-4f64-8152-f3512ec67bf8 CLINVAR:164656 biolink:is_sequence_variant_of HGNC:7606 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 920cea85-c97f-44ae-b361-3c8f7f30463a CLINVAR:1308583 biolink:genetically_associated_with MONDO:0700087 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e34242db-06c5-4070-8aa8-4d5875a24afe CLINVAR:1308583 biolink:is_sequence_variant_of HGNC:7606 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bbfa63ac-65d7-4541-8885-28645197f13b CLINVAR:1496916 biolink:genetically_associated_with MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b130c26c-61ae-4ddd-ad6f-0a027180bfd4 CLINVAR:1496916 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2c92bfaa-129c-4a01-bd43-ea676539096f CAID:CA412361050 biolink:genetically_associated_with MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3de7c163-85c9-402e-8715-92ceb4f1fff3 CAID:CA412361050 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c8511269-0cc3-4658-8f78-adc809551a52 CAID:CA412353168 biolink:genetically_associated_with MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen bf2be43b-13fd-4b5d-9954-51684d1ede6e CAID:CA412353168 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 91359cf6-49cc-4832-99fc-04e2640ff5e8 CAID:CA294589 biolink:genetically_associated_with MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen dd6a1d41-4029-4019-9159-398103529254 CAID:CA294589 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen db809130-c747-480b-b17d-3df0a0120f02 CLINVAR:1701032 biolink:genetically_associated_with MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 492b1e14-7df9-409b-aaff-27dd09a0cb2d CLINVAR:1701032 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9af73b1b-39b1-4887-bb42-5bd7729bfd2d CLINVAR:98831 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6694616e-1b0f-4878-9fc7-ffe6ab9ed0ad CLINVAR:98831 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2b6dde41-00a1-4a49-bed4-ae84adccf9f0 CLINVAR:978981 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9ca1f4cd-97c8-4508-ae10-3d563162ecb1 CLINVAR:978981 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4e855b86-ecc3-4de8-aff9-b6caf380a9ff CAID:CA340742778 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 73b6a646-1cb9-46c1-89b0-fff89c49f883 CAID:CA340742778 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0b401174-90be-40fc-9ef8-baff2297948e CLINVAR:973964 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5d6dfcf0-e6ad-444e-8d9c-83169fa115c0 CLINVAR:973964 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a6bdd8a8-21f2-4cb6-b816-2f68edb0a4f0 CLINVAR:203579 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b747d640-1f58-4940-a369-49c4d6bef9b8 CLINVAR:203579 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 49e5662e-3ac7-4a34-af45-88312f452b7d CLINVAR:65956 biolink:genetically_associated_with MONDO:0100150 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3005be76-8d41-41a0-b9b0-9d17c8040d27 CLINVAR:65956 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eed27b15-1dd0-4e3b-aec4-773f9a26e270 CLINVAR:420138 biolink:associated_with_increased_likelihood_of MONDO:0100150 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 54365f6b-ba49-4ff2-a0eb-848e6d558ce2 CLINVAR:420138 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 74417d60-cb41-4f96-b4f1-f26490b46818 CLINVAR:2582809 biolink:associated_with_increased_likelihood_of MONDO:0100084 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f478bf57-e4bb-4b8f-8032-7a306dcae9e2 CLINVAR:2582809 biolink:is_sequence_variant_of HGNC:129 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 84bf6e1f-6a36-42f9-8626-739ecb26c62f CLINVAR:280732 biolink:associated_with_increased_likelihood_of MONDO:0100084 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6c2537b9-e940-4317-8b33-6ac1c6fa636e CLINVAR:280732 biolink:is_sequence_variant_of HGNC:129 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 660a94fd-497a-4459-ae20-ed6266f85337 CLINVAR:93549 biolink:associated_with_increased_likelihood_of MONDO:0100084 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1b89b156-58cf-4e8d-b47f-a42645a2b930 CLINVAR:93549 biolink:is_sequence_variant_of HGNC:129 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 05bda6a9-4048-4e89-8702-198406d23264 CLINVAR:2582036 biolink:associated_with_increased_likelihood_of MONDO:0100084 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ed409e0f-0fdd-43c2-945a-8c29a4c4d839 CLINVAR:2582036 biolink:is_sequence_variant_of HGNC:129 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d166e612-ca61-4688-8496-f97e760f3e83 CLINVAR:430393 biolink:genetically_associated_with MONDO:0100084 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen af9e0998-a315-41ef-89b8-ff99599c41cd CLINVAR:430393 biolink:is_sequence_variant_of HGNC:129 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 358f9529-a237-49f6-9f21-59fc1340cea8 CLINVAR:18291 biolink:causes MONDO:0100084 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 11e413b0-0d7c-45d8-9a74-b58c2a50c4b6 CLINVAR:18291 biolink:is_sequence_variant_of HGNC:129 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5f21d488-57e4-4443-b108-687191f2ad8e CLINVAR:18288 biolink:associated_with_increased_likelihood_of MONDO:0100084 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9bea28ca-3f28-4768-b1fc-a3e562d266fa CLINVAR:18288 biolink:is_sequence_variant_of HGNC:129 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e6da13bc-e7b9-441b-beb6-15798029d6d2 CLINVAR:377433 biolink:associated_with_increased_likelihood_of MONDO:0100084 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen eb06ec17-731d-4eed-a04f-9da6d857a430 CLINVAR:377433 biolink:is_sequence_variant_of HGNC:129 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d238a00b-23a8-4b8b-aab0-0dc626b78596 CLINVAR:532770 biolink:associated_with_increased_likelihood_of MONDO:0100084 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 96d4966f-a2d6-4256-b27c-7f73d98822d1 CLINVAR:532770 biolink:is_sequence_variant_of HGNC:129 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 381403e2-d42b-4195-acc2-e7a7fb26fb55 CLINVAR:2572159 biolink:associated_with_increased_likelihood_of MONDO:0015628 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b888556c-cc89-4ffc-bf98-9d3e61113742 CLINVAR:2572159 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7228a6c6-e03f-484a-9cb6-f1aa5382b4ee CLINVAR:42098 biolink:causes MONDO:0100150 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ec67eccb-1cd6-4436-b001-3c321b4fb126 CLINVAR:42098 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 05158872-2e03-4fa3-a89e-c226fe6b764e CLINVAR:655896 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9e837028-9b75-4a84-86bb-cbba345c4959 CLINVAR:655896 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 46180cbc-ffac-420a-806b-0e9d8babf8ed CLINVAR:497129 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen da99f2f0-7075-4dc2-8edb-0f78f9378fe8 CLINVAR:497129 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 242f484c-8a59-4579-b857-7a67a4c8c335 CAID:CA347212124 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e0ba8e72-de38-4d24-8fd1-b4002853adbf CAID:CA347212124 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8c9d48fb-40ed-4e4c-a21f-4e228c598a88 CLINVAR:167025 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5a3d9018-a509-419c-a1fc-48710a608d1d CLINVAR:167025 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 46ba3924-76e8-4ad5-a903-c1aaf62a4567 CLINVAR:167021 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f020703f-c389-4278-8612-cd400e9a4420 CLINVAR:167021 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 29b5b42c-906f-4ca3-a1b2-ed3451869e37 CLINVAR:3775113 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f9c355c6-0be0-4777-8ed4-43a0c545dacf CLINVAR:3775113 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1b2b8015-03a0-43cd-9bdc-3bc1561c14bd CLINVAR:443997 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b60d0de9-819e-4960-9903-a2196a32a0c9 CLINVAR:443997 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3d6088d5-ab2e-4268-8126-268e99fb13af CLINVAR:6672 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 979eb492-24ac-403c-8283-d7dc38e7c240 CLINVAR:6672 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen beef971c-75d9-4b71-b8a0-e3f0537dbabb CLINVAR:1350756 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d13a7b6c-9632-4ab4-b73f-429ab1fffe73 CLINVAR:1350756 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e03aabf3-9249-49cd-8027-cbf162ef60c5 CLINVAR:217146 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0f10d821-14e9-4829-b977-44a8087e1f6c CLINVAR:217146 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ab6f97ea-e8c0-4322-95a2-fd68bbdc3459 CLINVAR:166786 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9d1379f8-ca4a-4910-b2cb-d6792aa69508 CLINVAR:166786 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 68333cc9-50f3-4f29-92c6-b7479cc467f0 CLINVAR:592961 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7ebd8d7c-d33c-4848-b1ba-f502ab120044 CLINVAR:592961 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6f5bda09-742e-4a22-9452-a11abd289251 CAID:CA347212126 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2952a184-2693-40db-a743-432a95707faf CAID:CA347212126 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9ac44832-d261-41c4-93a2-a6e669711909 CLINVAR:290335 biolink:genetically_associated_with MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 675aa0ac-64ce-49f7-b95a-ef97625fe5cc CLINVAR:290335 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f7229eba-0203-4133-a90a-df8fc9577c88 CAID:CA414917675 biolink:genetically_associated_with MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 319af264-d4e5-410f-b670-240d1d395054 CAID:CA414917675 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e7cb2052-2c6e-42a6-8d79-5078827310ac CAID:CA414438886 biolink:associated_with_increased_likelihood_of MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen dd2ade81-14c7-46ed-bbf3-90dba5d0a5fa CAID:CA414438886 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 192be7a9-cee2-4981-a884-310dd2c928d4 CAID:CA414434363 biolink:associated_with_increased_likelihood_of MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d0a724d6-7efb-420e-b7fa-bdffab0b13a3 CAID:CA414434363 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 46fa387b-eb66-4c3d-80ef-24eda6884675 CAID:CA414446705 biolink:associated_with_increased_likelihood_of MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1787d2b9-bad6-4fbe-984b-a68d9512ded7 CAID:CA414446705 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7a68ceed-54da-4260-a205-740b4aefa2dd CLINVAR:804141 biolink:associated_with_increased_likelihood_of MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ef79bb7d-d64d-40df-90a7-59dada069505 CLINVAR:804141 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0efbd744-37e6-4001-9ad5-f7a0085219b6 CLINVAR:627123 biolink:causes MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen cc1497cf-c113-47ab-ba54-24c5bffbf038 CLINVAR:627123 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2b309063-af8d-4751-a89c-8565fd613c26 CLINVAR:557885 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen cd2bb1e8-7af7-4d6c-a291-116edec32360 CLINVAR:557885 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f7d69576-bf29-4a04-a406-b695337d0ee4 CLINVAR:960079 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen da86a0f8-4c01-4726-b522-d812c651384f CLINVAR:960079 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 83176255-3f33-4c4e-af1d-530544e6fad3 CAID:CA355961650 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 06c5779e-cc5c-4eb9-81b3-e7e431926cd4 CAID:CA355961650 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a3c1116b-71c5-4bb4-bf2b-44aa99359033 CLINVAR:11922 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 43ecd299-2d95-40ef-85db-7bc1afbf752f CLINVAR:11922 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9bd25259-10fc-4378-8b91-c1b30a556b6e CLINVAR:252242 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8b3b95bf-2a71-4902-80d2-89015880635b CLINVAR:252242 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 85464d4c-5947-43d4-967a-598576167a73 CLINVAR:226387 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f1776879-9cce-46f8-a214-b053ad89243c CLINVAR:226387 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5be03fb5-1572-4ea5-9262-a665d2404e0f CLINVAR:252259 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fbd82470-1755-492a-9666-8699528e3b2b CLINVAR:252259 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1d6875ff-e97c-4aaa-b310-4c5e3fe7fb11 CLINVAR:629370 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d9bc4dfb-30dd-4191-befe-0ea7ee2a8ad7 CLINVAR:629370 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4352866d-e194-47bf-8e9c-68dc85baa299 CLINVAR:251877 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0f9a050d-9e68-4c4f-90d7-0db848dd5d98 CLINVAR:251877 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 952461d5-eec5-4b04-9dfb-62ab89288e45 CLINVAR:920005 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 03896514-7868-4ae5-b9e5-54cfa336f0c6 CLINVAR:920005 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 79f22534-de6f-477a-9989-c1d7d653505d CLINVAR:251843 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 73f9e462-e940-43f7-a2e8-0e5421af0569 CLINVAR:251843 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d7f1ed1c-f284-4b04-9c93-2c49243ff4c0 CLINVAR:251838 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4258d3d1-64e7-4cb0-a9ab-c3f4b720efae CLINVAR:251838 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2613c7e6-a8a1-4bfa-a750-26cb9bf1bbe0 CLINVAR:1713361 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7cbb5e14-0b11-4a7a-972e-bd5b3288249a CLINVAR:1713361 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b2300938-7535-47d4-92d8-acaff034a958 CLINVAR:550622 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f2a56c35-54c2-4c20-8733-a09b70d6f2a4 CLINVAR:550622 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8b7793d0-7c45-49d2-b8eb-dd114f723f3c CLINVAR:955458 biolink:associated_with_increased_likelihood_of MONDO:0012996 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8b131162-1d42-4ba6-8934-d1619c3f5855 CLINVAR:955458 biolink:is_sequence_variant_of HGNC:4175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5671d470-b86f-4aee-9db7-2360d5d5e3b2 CLINVAR:287 biolink:associated_with_increased_likelihood_of MONDO:0015629 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9e84dea5-d050-470f-bf52-1d1254f3c335 CLINVAR:287 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b0132049-a774-4864-a33d-de7b3cca9b28 CLINVAR:100312 biolink:associated_with_increased_likelihood_of MONDO:0013304 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen bebf04e5-a9e0-42a4-91da-70daed2cd4af CLINVAR:100312 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ccc75238-e137-42ce-91bf-4891aadb2557 CLINVAR:474882 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 92219a9c-1794-4df8-80f7-19c5b0dbd07e CLINVAR:474882 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e95a075e-c91e-4ed8-ac99-7b6722b44d90 CLINVAR:203582 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4565a2eb-f141-451f-9950-d585d55e31b1 CLINVAR:203582 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d11491da-b985-4782-b046-70a958fcc7dd CLINVAR:3720746 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e9a32454-72e7-4877-9372-96c7b649916f CLINVAR:3720746 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bf5027b8-bdce-4664-bc11-8f029b8726a9 CLINVAR:2684202 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6b501e58-e4c3-491a-8804-3760940330a9 CLINVAR:2684202 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 27ed786b-2cf5-4803-b39d-4aeb839cd0a1 CAID:CA409103833 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7ba12137-34e5-48da-b110-a1c49d1ef759 CAID:CA409103833 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d99a600f-e8ab-4937-941e-794e62f52c9d CAID:CA2573051296 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen fcb8b679-4711-496f-9168-5346676b0b1f CAID:CA2573051296 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b817c46e-b241-427a-95a0-ac2861afabc7 CAID:CA2573051297 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen cd31eb82-9753-486d-bdc8-ac7b9836786b CAID:CA2573051297 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c8a09f6c-b47d-4976-bd68-36b7b5aa4b8d CLINVAR:2580866 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1a421c5a-af13-4348-8b62-5ddf5d16cd58 CLINVAR:2580866 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aafec44d-f9af-49c6-bad2-b11a35d1f017 CLINVAR:2627337 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 228a64e5-4230-493f-9f4c-cec26ee94e8c CLINVAR:2627337 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 61aab8fe-df89-499b-ac2c-fa4dd8b58da9 CLINVAR:3893273 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen cdce8495-cdaa-4af1-8b3d-3110608f1dae CLINVAR:3893273 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 585359c2-f271-4078-9f98-22df3cc2fcff CLINVAR:2136527 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8c7e156f-0c79-4fa4-9708-a36741141258 CLINVAR:2136527 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 63428a99-473f-47a6-b541-8df44ae819b6 CLINVAR:3893274 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d10f97eb-3478-453f-9d07-92eb8fbb5965 CLINVAR:3893274 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7bee0860-3867-4617-9619-bf4ec2b0bfbf CLINVAR:994611 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9ebd8835-2965-4d2d-8e4c-a78987aaefe2 CLINVAR:994611 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen caf1a5c0-1794-42e4-bf80-ffcc4640ee8d CAID:CA386960397 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 24467141-75e4-43cc-ab77-fc70dd329724 CAID:CA386960397 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ff212282-f07e-4685-90dd-c38f60ea3a57 CLINVAR:763076 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5e6dd473-d94c-45d9-8909-3560a276dc8f CLINVAR:763076 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aad03922-9d78-46d6-9222-3e1fae50e63a CLINVAR:1494029 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 32e16995-2a15-4af4-973e-cbcd2a2ec51c CLINVAR:1494029 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 47fc4d6d-1709-4681-994b-b929d89f11c0 CLINVAR:102829 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen bdd39c61-859f-437d-88bc-739fa180466f CLINVAR:102829 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d0d01996-177f-4e93-98c8-e3b45c84f4d8 CLINVAR:102828 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 11decedb-6ea1-4822-9683-76dc7fc456e6 CLINVAR:102828 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen effa4b3c-dd93-4f2a-a83f-b220892b5eac CLINVAR:982109 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 887b297c-cd56-459f-85fb-6ef3c96ce066 CLINVAR:982109 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b614a1f4-908c-4e39-8b77-75f0d9898877 CLINVAR:3893280 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5aeed636-6d89-4e87-b0b6-f5c0c81bb5ae CLINVAR:3893280 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ed0cdc56-7864-4e65-9856-a3851240a9be CLINVAR:972780 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ed9b5a2d-9726-469c-8763-8327688933b8 CLINVAR:972780 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 78a0f6cf-1eaf-403f-bedb-6309a8fae908 CLINVAR:972770 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen cc154ae0-764e-4635-bde4-6bb1b0a4f1e1 CLINVAR:972770 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ec09886c-c100-4d9f-96b9-566e493b604b CLINVAR:2735983 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 82bead60-9bdd-42e5-b66c-a3353bd124ac CLINVAR:2735983 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 00b75717-de95-437b-a341-8dd05404d2fe CLINVAR:3893277 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 40813437-3ba9-4cd3-b1a9-72d7ff0a7dea CLINVAR:3893277 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 99404151-6b38-4586-a4df-d9f6fd10484c CLINVAR:3369823 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 16df2b45-1ff6-4c09-8f77-542723d8d0e6 CLINVAR:3369823 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b9ca897e-75ec-477f-adc7-b62bfe06f555 CLINVAR:3893276 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c34721ff-4995-4853-9bb5-26e2800fd99a CLINVAR:3893276 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e767e237-8f93-475a-9763-c36c2fbe4c15 CLINVAR:1184933 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a5e9971f-1e58-4214-bec6-d40a16e38f0b CLINVAR:1184933 biolink:is_sequence_variant_of HGNC:6742 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 877626c6-274c-44ba-b95b-7b6ff39772af CLINVAR:372684 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 30dc1942-c158-488a-afdb-24413d6bc537 CLINVAR:372684 biolink:is_sequence_variant_of HGNC:6742 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5048115a-0b13-430f-a07f-6bf5065e8996 CLINVAR:251013 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b674f7bd-b687-48c0-a242-d6432d190308 CLINVAR:251013 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 02b8bbf3-fdfa-4c17-a0c9-3204e55fda55 CLINVAR:206972 biolink:associated_with_increased_likelihood_of MONDO:0100038 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 02547d3b-e270-441a-9e5c-27188012a9e3 CLINVAR:206972 biolink:is_sequence_variant_of HGNC:10588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1955194b-da8f-417d-a102-2f8d17652416 CLINVAR:2435687 biolink:associated_with_increased_likelihood_of MONDO:0100038 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 45e8976a-40f6-49c6-a7b7-c7498547e3df CLINVAR:2435687 biolink:is_sequence_variant_of HGNC:10588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 02452db0-aeae-41bc-80b7-fbbeebd565b6 CLINVAR:894363 biolink:genetically_associated_with MONDO:0100038 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fc78ecca-3483-4efe-a647-b6c61ab3f068 CLINVAR:894363 biolink:is_sequence_variant_of HGNC:10588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fe9fb3cc-36d7-41cb-ad17-21c1e4ab6fcf CLINVAR:541724 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ac450bb3-c6f1-4c46-ba2b-c706bbd4bf90 CLINVAR:541724 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5e458ff0-eec1-4ae7-a414-4bf05037e846 CLINVAR:1496514 biolink:associated_with_increased_likelihood_of MONDO:0011132 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b080761c-2d16-4b9f-a8f9-380fd4dc0a86 CLINVAR:1496514 biolink:is_sequence_variant_of HGNC:12765 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a3039807-5916-4ef4-abe8-d9613bc356b8 CLINVAR:9552 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c3e9ac1f-442f-4d0e-a9a7-a45b84e080de CLINVAR:9552 biolink:is_sequence_variant_of HGNC:7502 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 94394266-40f2-4b4a-893d-a91e596130a5 CLINVAR:9551 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3967f1d2-eca5-461f-9699-8ce3726d304f CLINVAR:9551 biolink:is_sequence_variant_of HGNC:7502 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 985b874e-4ed0-43d5-9b8d-0ff9564665b8 CLINVAR:9562 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4d8dbe96-b863-42a9-be8d-067bfe1e714b CLINVAR:9562 biolink:is_sequence_variant_of HGNC:7497 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f995f6b7-1e97-4bd5-adf7-de01ab3670ab CLINVAR:3899317 biolink:associated_with_increased_likelihood_of MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6325af02-8e6b-41ba-af76-0896364095e2 CLINVAR:3899317 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7368e641-9b8b-4955-b5ba-4cd7a4ce4bdf CLINVAR:425907 biolink:associated_with_increased_likelihood_of MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a48f0f77-2492-49e4-9b68-1b963393ee90 CLINVAR:425907 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d1f73ab2-d145-41e6-aa6a-4ce2647360a2 CLINVAR:425912 biolink:associated_with_increased_likelihood_of MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 84c7cd02-ffca-424e-a66e-c232597bf62f CLINVAR:425912 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e4a31a43-5bc1-49b8-8b84-31581b1350a3 CLINVAR:425913 biolink:associated_with_increased_likelihood_of MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen fbd00fab-2d0e-49ac-9e1c-7cba7d457a8f CLINVAR:425913 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c792ad7e-ca88-44a5-b6e8-edaa7dc4ffc7 CLINVAR:425914 biolink:associated_with_increased_likelihood_of MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8c65dd95-3723-478c-aae2-ea1883a2abe2 CLINVAR:425914 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4d99d3ec-03a4-4122-b39f-ae8e6fd209ff CLINVAR:440534 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d8ad8b80-6a10-49ed-a158-7b5f715dfab3 CLINVAR:440534 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7446c4ef-1432-4828-b7ed-80f2f6f90f39 CLINVAR:631470 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 16e0e2da-4ea2-4087-a124-5f612399224c CLINVAR:631470 biolink:is_sequence_variant_of HGNC:7497 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 15de751c-5f18-47e1-80ec-4126b71c653a CLINVAR:9639 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6ef2e80b-2964-4a45-9ae4-04953a01f85c CLINVAR:9639 biolink:is_sequence_variant_of HGNC:7414 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ab4da315-1c31-44e4-b186-59daf47ef722 CLINVAR:9648 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5869655f-efe6-4734-b962-1d5d8bb31327 CLINVAR:9648 biolink:is_sequence_variant_of HGNC:7414 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2fc4216e-5a72-40f7-81b6-d858e2f02e9d CLINVAR:9594 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 58487503-7e77-4532-a5d8-cc076ee3f9e5 CLINVAR:9594 biolink:is_sequence_variant_of HGNC:7490 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 90c2d0d7-8b2a-4a4e-a19c-40a65813f1c4 CLINVAR:689805 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 81b5a7b2-9f0a-45b7-9a88-3822f6246a20 CLINVAR:689805 biolink:is_sequence_variant_of HGNC:7481 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4d96f04d-4af4-4369-a5b3-2d132fcb97da CLINVAR:178943 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen de768d4f-f5d1-4417-b393-9dc321836a40 CLINVAR:178943 biolink:is_sequence_variant_of HGNC:7481 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 043b8e39-a811-47b0-9363-009dd52e6541 CLINVAR:40885 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 492e7c82-1fcc-45b0-a345-99deac1edecb CLINVAR:40885 biolink:is_sequence_variant_of HGNC:7497 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 056a90bd-d53c-4182-8e22-d406d58081c9 CAID:CA3046583529 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3b4acdfc-b89e-4020-80de-703c0537512d CAID:CA3046583529 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bc1e1952-b6fe-4629-80c8-53d82dd10ca0 CLINVAR:16039 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b5db0a8c-bc1d-449b-95b6-04d879eec405 CLINVAR:16039 biolink:is_sequence_variant_of HGNC:4440 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3388497d-8c08-4228-8529-e032c9061f3a CAID:CA2635578680 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 684b5a37-9450-475a-be4d-b1cd9312ef98 CAID:CA2635578680 biolink:is_sequence_variant_of HGNC:4439 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c6150e13-d97f-4f9e-810b-33392d4ad385 CLINVAR:2736404 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 847f4ddf-8a23-46e5-b094-2b79aa55a7b9 CLINVAR:2736404 biolink:is_sequence_variant_of HGNC:4439 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 69a747ed-3840-4617-b479-9f5a564f86c2 CAID:CA397318655 biolink:genetically_associated_with MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6cda1402-8a4b-4b55-9590-c280cb9c6530 CAID:CA397318655 biolink:is_sequence_variant_of HGNC:4439 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 534910b0-ea23-448d-920e-c9ccf922b974 CAID:CA397318711 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2c7a7cdb-7862-49eb-8899-313eca14c27e CAID:CA397318711 biolink:is_sequence_variant_of HGNC:4439 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 28321353-24d8-4858-bcaa-ec70362596b2 CAID:CA2695224152 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen bb4d4c07-1f4f-4060-b54b-431a957a7eba CAID:CA2695224152 biolink:is_sequence_variant_of HGNC:4439 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 049bb364-3bda-4474-bcc6-f02195d82cbc CAID:CA2695224153 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8facc343-9e12-44b4-82ce-ce00de16132b CAID:CA2695224153 biolink:is_sequence_variant_of HGNC:4439 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6281f404-566a-497e-89a4-42ea1323e067 CAID:CA2695224154 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 71dc5bbb-8753-4282-bbde-f08106e50076 CAID:CA2695224154 biolink:is_sequence_variant_of HGNC:4439 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6f628ac1-8d0c-4274-898e-422b87f00aaa CAID:CA354449503 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2f765c1c-d0f5-42e5-a735-15b8238e00ce CAID:CA354449503 biolink:is_sequence_variant_of HGNC:4444 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ecba9f75-50eb-4f99-aea2-610bcece4e83 CLINVAR:3725077 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5776112b-7996-4104-9232-4314a3597811 CLINVAR:3725077 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c9ac6dba-f664-4f89-885c-b95a97790313 CLINVAR:3650680 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4b091f65-b26b-4047-b6d2-d5bdea08d544 CLINVAR:3650680 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6a1fd663-4887-4b4e-85ad-c51b549e9fe3 CLINVAR:3650681 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b00287e4-01f4-47a9-aeb6-7ab6d1d5c183 CLINVAR:3650681 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 015b8e46-f868-4cce-9351-788681781c12 CLINVAR:3668347 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1935c162-d1ca-4162-9246-b78ae7336ab1 CLINVAR:3668347 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2ee13fd6-2830-4744-944f-ab0f1939b38c CLINVAR:3768410 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e97ae751-117f-42d1-8289-bd99352fa768 CLINVAR:3768410 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3ac42659-d1ca-4a8a-9ab9-952b4c13abac CLINVAR:3662819 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 869acc88-5949-468f-b2ec-9176019979e2 CLINVAR:3662819 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1905d457-8e71-43ce-ba6c-f644a6c87643 CLINVAR:2813100 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ac88a9aa-d4df-4d1c-ab2f-1c294d714758 CLINVAR:2813100 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3be2875e-f78f-4316-bf77-70ac42d1a54d CLINVAR:3656666 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a541823a-11c4-4b98-bc93-7ec478d39e5c CLINVAR:3656666 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c2e01302-364a-4da1-9b8e-fda876cd2c34 CLINVAR:3772099 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1de6435b-d20e-4bc9-af6e-c417dee9954e CLINVAR:3772099 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 554cbf8a-a28d-425b-8f40-906ee8b4ce99 CLINVAR:3645433 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5ac86685-492f-400d-9210-f85a3b1aaa39 CLINVAR:3645433 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7720b98c-91d8-4ccb-b084-292b80c9befc CLINVAR:3663825 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen db4bd86b-45cc-4b38-ac91-d48e6a993cd8 CLINVAR:3663825 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9dd5f057-23e5-4344-945c-a531267554a1 CLINVAR:994410 biolink:causes MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 42a6725a-9f2a-4193-ab67-e67d3406a6a5 CLINVAR:994410 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2a002687-51ec-4fce-a33a-b8ad1ac537e3 CLINVAR:3587670 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen dd3560b1-6663-4e60-93e8-70059375f947 CLINVAR:3587670 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d90b0fee-9836-419a-be78-b7043ff5b833 CLINVAR:3674110 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b18d9929-1fc3-49f5-8fbf-94748ac89adb CLINVAR:3674110 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c7d54d9b-4293-4bb0-af30-e9417c9925fe CLINVAR:3653535 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen bdf89c1a-7a57-4141-830d-b46b6ad38819 CLINVAR:3653535 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2d66af93-8c64-48ec-b87b-e59ac2d95618 CLINVAR:3638768 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7d22c781-f5e7-4eb7-8933-3cbbe70e9d74 CLINVAR:3638768 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e7236fdd-fa15-4d35-8791-8da0a2159dd3 CAID:CA414917674 biolink:associated_with_increased_likelihood_of MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 993501b8-d22e-4921-ade2-8f0f21683d50 CAID:CA414917674 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8313572c-7aad-47a4-8598-2a49bb820693 CLINVAR:3672603 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6fe55bd1-7b92-4b33-aba7-0402d97bc1f0 CLINVAR:3672603 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d767ed45-2485-48b1-9b66-3e1fd8fd39d7 CLINVAR:3647941 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ec5159e1-f426-4384-baf1-f661e64a23e3 CLINVAR:3647941 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen adc6ee2e-2fb4-420f-8fe2-e76f93f728b3 CLINVAR:3666186 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen aedb9848-ae57-4498-8b7b-09986fcad5ce CLINVAR:3666186 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4a2b70c5-449c-4d31-a240-cf6ef43c16ec CLINVAR:3671857 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 993c812b-8164-4b0b-9ff1-8299be7bc457 CLINVAR:3671857 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8568bbf1-ecce-43e9-abb9-7e920c72be7f CLINVAR:3677909 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a261a2b2-884b-401c-8218-76ca6aa2714d CLINVAR:3677909 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4ad6c5fc-b106-49e6-b7f2-a87a8c775c19 CAID:CA414910923 biolink:causes MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 51245fe1-20b5-4327-8798-6f9af095da9b CAID:CA414910923 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 95d37b5c-52f5-46e1-ba29-5a5bc9977864 CLINVAR:3661791 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen bffaeffa-7c11-4e72-8f12-fb99fc7ce238 CLINVAR:3661791 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen abf09f56-da72-4a89-839f-b90e9662e3a7 CLINVAR:3727697 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0f6b8682-feb3-4c96-a480-2f70a4888286 CLINVAR:3727697 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 034f9e65-85ab-4722-ab4e-3a5754d4c4b5 CLINVAR:3651897 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ab6bd086-ec71-4ac3-91c8-cb2eb39276aa CLINVAR:3651897 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f7422cc5-9989-45ec-9d4f-12d326808811 CLINVAR:3727827 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen eda4f799-b7ca-48a0-b0ab-523d2981aa99 CLINVAR:3727827 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 11f6a306-cba0-49cb-a996-20c183767440 CLINVAR:917689 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen bb57bdce-5516-42dc-898c-6747a4f737a7 CLINVAR:917689 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7208c1bb-88cd-4e09-acad-eb72eee98098 CLINVAR:2840670 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 664c73c8-a95a-4db7-a82e-03fd5b4f6fcf CLINVAR:2840670 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d998d84a-9cc6-4ec1-806a-e6eeb3d4bf56 CLINVAR:3693271 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c3b4c176-eb6d-4a43-a694-9766c11e46bb CLINVAR:3693271 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8263e3d9-30da-40f4-a7f9-3f02644f57e0 CLINVAR:3618297 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 54ecd5c9-0bc0-4a5c-b80d-cf146f0e2a72 CLINVAR:3618297 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6b85e7eb-9255-481c-bfe3-45f8ffffa7a5 CLINVAR:3642848 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 11449097-0806-4162-b3ed-5ce71f7707b9 CLINVAR:3642848 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 73ab5369-e14d-4228-977d-2c6d2fcbd58b CLINVAR:553131 biolink:associated_with_increased_likelihood_of MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c8b16219-667f-48ec-a004-5f0c99e7d339 CLINVAR:553131 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 79d66963-07da-4914-be63-0076508bf781 CLINVAR:1321357 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7e58df81-c24d-4ab6-8024-8e069bade59d CLINVAR:1321357 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 59f84c7f-b5f8-46a3-8fbf-1060db90de2f CLINVAR:754391 biolink:genetically_associated_with MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f207caeb-da92-4261-857f-799f34d8bf2c CLINVAR:754391 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8de01542-114f-48dd-bece-fa06e4c7ff43 CLINVAR:222993 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 50edf0c8-61a1-4e9a-9490-2403fac9afed CLINVAR:222993 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 536252e7-07e6-47df-b9fe-406e06a9c24f CLINVAR:1323092 biolink:associated_with_increased_likelihood_of MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8ce7d46e-d706-42f9-8fb1-639653ef398f CLINVAR:1323092 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a804fc42-276f-4917-a6fe-43b34321a31b CLINVAR:3906898 biolink:associated_with_increased_likelihood_of MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3576a0c5-0c34-4d8a-a9a0-c4d599bcf46d CLINVAR:3906898 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c5e5b369-7167-41e5-9897-74ac94f8c56a CLINVAR:2734632 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 86c7310b-126b-4c42-9da1-41a83fd80a8e CLINVAR:2734632 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e55e7c88-c036-41f7-b98c-999f9ddb098a CLINVAR:1518010 biolink:associated_with_increased_likelihood_of MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 18dce0d0-8928-4b18-977e-a567d015baf0 CLINVAR:1518010 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 62981d00-cacd-4519-8217-e86aa0c90672 CLINVAR:425916 biolink:genetically_associated_with MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ab8e75c0-48d2-4a3a-8914-3f577565262f CLINVAR:425916 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6637dbce-5ca0-4929-a7f6-913630c6e2cc CLINVAR:425917 biolink:causes MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 388278d8-f6e3-471f-8da2-2d579b3c25e1 CLINVAR:425917 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7a1ffd4f-23e5-4ddf-a6a0-605fc767c6ce CLINVAR:428193 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen dc574bea-c58d-4e04-ac86-35a50758acb9 CLINVAR:428193 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bd5bec7f-4803-407f-9deb-cf930bd720a8 CLINVAR:929236 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a1581491-870c-4e4f-a158-bf281cbd522d CLINVAR:929236 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9853b276-40aa-4291-a6f8-06291b2ed535 CLINVAR:846228 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 51001d9d-c8ea-4ff8-aa3f-7f0d7b05c7e6 CLINVAR:846228 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c280a7c2-b1ba-4a55-8083-89ba215fecf8 CLINVAR:959950 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a9bc0836-be00-4a20-b41a-bb30194bdba9 CLINVAR:959950 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e4d974b5-98d8-4331-a373-d642945f21ac CLINVAR:526532 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 95c9619d-0659-4a88-8f23-6cfd670f4bdd CLINVAR:526532 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen be267a48-ee7d-4a9c-b66b-85fc721111a6 CLINVAR:1684005 biolink:causes MONDO:0015628 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0b7f998b-d483-452c-afd9-405d08e24cf3 CLINVAR:1684005 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d86521ce-b1e0-4aeb-b484-9e2cb763e276 CLINVAR:100398 biolink:causes MONDO:0015628 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3622e02c-dc68-4946-85c7-d1c0808ca082 CLINVAR:100398 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3dbe89a1-c486-48f4-b334-2aa51cbfb8b9 CLINVAR:541725 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c0cc1015-1220-4803-9b42-93a6fee8a6d4 CLINVAR:541725 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ef0bc2fc-871e-40d5-b488-5dd1e32302f5 CLINVAR:1021968 biolink:associated_with_increased_likelihood_of MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 642af845-1502-40ac-9fc4-279571221b04 CLINVAR:1021968 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 777f9275-a633-4117-a5d9-58398f7b5bfb CLINVAR:1691250 biolink:genetically_associated_with MONDO:0015630 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e282209a-0fa7-470b-ac93-d8689a51ce95 CLINVAR:1691250 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8dc2d0bd-084e-4090-a6cf-9c8132ef7b49 CLINVAR:1684012 biolink:associated_with_increased_likelihood_of MONDO:0015628 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 43eb23a4-f637-4519-8da5-8cf745a48442 CLINVAR:1684012 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d1831bf5-264e-4fcc-8434-1f4650f17231 CLINVAR:100269 biolink:causes MONDO:0015628 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 552f89c9-7d44-4505-8669-8944210bfdbb CLINVAR:100269 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3bb403c1-5fef-4764-96f3-cedd18cb6f7c CLINVAR:626960 biolink:causes MONDO:0015628 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 82cdd788-52b5-4f23-887c-3b4ecd58b204 CLINVAR:626960 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 100b7f46-95da-4dbe-809e-dccea8a88a49 CLINVAR:1684483 biolink:associated_with_increased_likelihood_of MONDO:0015629 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9ca607e9-bc70-4a37-9eb8-1aaae5c3d8bf CLINVAR:1684483 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 91291987-d4bc-4960-bda5-ae1c488a4385 CAID:CA397318622 biolink:genetically_associated_with MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7fa36763-15f7-4443-b79b-57ece7d1914d CAID:CA397318622 biolink:is_sequence_variant_of HGNC:4439 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bfd37300-9130-4db6-b78f-6e8dd64744a5 CAID:CA2695224141 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0d18b063-476a-41bc-8b91-2b131c31651c CAID:CA2695224141 biolink:is_sequence_variant_of HGNC:4439 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1c20c975-e113-45f7-a30e-4c8d195d401a CAID:CA2695224140 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1401289d-d884-4d4b-876a-f477cbfb2c5b CAID:CA2695224140 biolink:is_sequence_variant_of HGNC:4439 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 62449e23-827e-4566-8167-efd3b51916e7 CAID:CA2695224138 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 68347346-548c-4d54-9839-5264a9017257 CAID:CA2695224138 biolink:is_sequence_variant_of HGNC:4439 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8ddb5c7d-d6ee-4eb4-b28a-a7646f36fe2a CLINVAR:438884 biolink:causes MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 470d8ef7-bd76-4ddd-8052-6140b6870132 CLINVAR:438884 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 448f9ec8-a9a4-4d7a-8cd8-f2b7f18200ac CLINVAR:689818 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7badeb43-8316-438a-83b9-0115f90bd7dc CLINVAR:689818 biolink:is_sequence_variant_of HGNC:7481 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9f77117e-3826-4ccd-a0d2-1bab348f85ca CLINVAR:689852 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 374f9ef0-0502-4acd-b7a4-8c0a058953d4 CLINVAR:689852 biolink:is_sequence_variant_of HGNC:7500 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 25af5faa-c4be-4391-9475-3b4102595e0f CLINVAR:9549 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7174cfc8-a879-4999-8577-cff10231ac42 CLINVAR:9549 biolink:is_sequence_variant_of HGNC:7500 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6100d110-54b2-4819-bc96-50427ff7e5c5 CLINVAR:690050 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c442b179-f57c-4d46-b05b-2535ba971fb4 CLINVAR:690050 biolink:is_sequence_variant_of HGNC:7500 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fe7db59d-8f58-4ae6-afa0-62bb4df3b446 CLINVAR:9600 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f8f73295-9467-420c-8d5e-5232d35d24ed CLINVAR:9600 biolink:is_sequence_variant_of HGNC:7490 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 44e2145d-3a02-46cf-b56b-d06e03fefe16 CLINVAR:690070 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1587a46f-9263-4d4c-b55b-053e6a7e4f29 CLINVAR:690070 biolink:is_sequence_variant_of HGNC:7489 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d9189569-a41b-4502-a7ff-cbdae13bb858 CLINVAR:690126 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 595b7043-6f74-454f-91c4-25ce0c13cbd3 CLINVAR:690126 biolink:is_sequence_variant_of HGNC:7496 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e093c2bc-6fb9-45a4-aeb0-64527ac643a9 CLINVAR:689870 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4db33e81-b222-4bd3-9372-07c2b3877a05 CLINVAR:689870 biolink:is_sequence_variant_of HGNC:7490 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 42e6c103-1a95-43dc-8c63-11733abefa2c CLINVAR:289571 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a26ba788-c6ec-497d-812c-5dfbee0f21b9 CLINVAR:289571 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 27f16546-d66e-49ea-b971-b327d958a519 CLINVAR:288438 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ea6a14e0-e669-401a-a01c-2d254e9dcab3 CLINVAR:288438 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dad3576b-be01-4728-b8e9-fbd7545cb8c3 CAID:CA2832612269 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2cd51301-587f-4cf8-8ca2-030cad095aee CAID:CA2832612269 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e8a25672-cce3-4473-82d0-fc3fe1963f05 CAID:CA2837582287 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 175a7b5b-1db2-4365-a78a-572ff4933d70 CAID:CA2837582287 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 573c22e7-ca01-436d-9f52-c6cc3067114e CLINVAR:94344 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8c57e68c-9278-42ff-a46c-466dc82243e1 CLINVAR:94344 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 54726b6b-05e1-4e3c-a0a9-8c092f888983 CLINVAR:646166 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3b99dedb-48c1-4e0d-86e2-b5912fae5948 CLINVAR:646166 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bc77ba5f-875f-41a5-b8a5-2dc1ab1da135 CLINVAR:2912979 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6388fdce-94c5-4783-97a8-a49f2ff396c9 CLINVAR:2912979 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9e2f1617-17f2-43f2-9d57-ffd8b413df4f CLINVAR:94330 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6a8d0fd6-ced9-4b82-af1c-81b1b480b99c CLINVAR:94330 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4f422e9c-0553-4752-a08a-d73fac527845 CLINVAR:197217 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a759f0a1-faf4-486e-9903-bce8eba6038d CLINVAR:197217 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ee9a0e3b-eb32-475d-a2b8-75f906caefc7 CLINVAR:94262 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7b906f00-8296-4cd0-97b7-3a390de4fb75 CLINVAR:94262 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ff2dce27-622e-47f3-8d04-d80f23d33ef8 CLINVAR:808764 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 64f0d019-c473-4e8f-95e3-d7cde12d194b CLINVAR:808764 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d6c75526-677b-4d89-b1b0-eb24f3d09b7c CLINVAR:281072 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d22c602d-83cb-4757-8024-647857b75059 CLINVAR:281072 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c12ebb3e-6327-47bc-ab55-603ce724484d CLINVAR:468648 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2ce07a96-c838-42a5-be74-88d504f29c52 CLINVAR:468648 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a50431cf-0c03-433d-9ac6-25b60379efcb CLINVAR:17613 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6261dce9-4216-4135-ab61-951e3e602e3c CLINVAR:17613 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 94ddef8f-5d25-465a-a457-7e1301a2a272 CLINVAR:497565 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7328a13f-dce7-4319-91aa-4557e2f966bc CLINVAR:497565 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 58099d0e-a921-4a5a-a105-fa8cbc611552 CLINVAR:94324 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 06d8cff9-30bb-4c2c-8319-9c7b5494236e CLINVAR:94324 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0718ec99-7595-4c66-9d97-c606a8df2673 CLINVAR:94317 biolink:genetically_associated_with MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e5c62378-4eb4-4647-8321-28e23291eed7 CLINVAR:94317 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d8d2cd29-4b7b-4e09-af38-03c4c250e517 CLINVAR:281197 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5ca6d4bb-d72c-4cd4-9594-6e43336390c0 CLINVAR:281197 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen af24f5f3-4347-411a-8202-cca127436235 CLINVAR:2424693 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 06b23f14-13cb-4dba-8fe1-4578429e1b41 CLINVAR:2424693 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4fa7cd10-9839-4407-88fa-424d19135558 CLINVAR:486792 biolink:associated_with_increased_likelihood_of MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e7b83b75-4141-41c2-9679-555c08c2cc1e CLINVAR:486792 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 58456ae3-5d49-4911-8f1a-e9fc0c4fd920 CLINVAR:141515 biolink:causes MONDO:0021055 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b37184d5-fd7c-4bc6-b39f-4220a86a1bba CLINVAR:141515 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c1a519e3-23cf-43fb-a701-dfead5ba3393 CLINVAR:246402 biolink:genetically_associated_with MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 63bf6476-fc0c-4149-baae-b7447f0346b5 CLINVAR:246402 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e25dcab0-a9f9-4607-94e2-1f6a1e572164 CLINVAR:265372 biolink:associated_with_increased_likelihood_of MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen cfef6a31-f3d5-412e-a8c2-21dc1210bc3e CLINVAR:265372 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4e529183-a2aa-4554-bba2-9d62a203c3ee CLINVAR:822326 biolink:genetically_associated_with MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9141f07a-3610-4571-9409-7624ebde2926 CLINVAR:822326 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ab860cd4-5b30-48f6-bb57-8649bd42efc0 CLINVAR:1319598 biolink:genetically_associated_with MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2e0244be-d6c4-4b19-afaa-037e9fcb7de7 CLINVAR:1319598 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 46427164-7580-4295-bde9-a8835b9cd1fd CLINVAR:1025291 biolink:associated_with_increased_likelihood_of MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2405d67a-199a-4f19-8ebb-54399bc23cf0 CLINVAR:1025291 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9e91e020-f31a-4f42-8cc1-f55a0b3f5257 CLINVAR:485146 biolink:associated_with_increased_likelihood_of MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 71a2729e-8571-47ea-a3a9-610d6c5f9c5b CLINVAR:485146 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c49ea23c-f502-4e76-ba0f-d794ddbd5172 CLINVAR:231954 biolink:genetically_associated_with MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4519578e-057b-44e8-9334-140c7aec04fb CLINVAR:231954 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6998d56e-2c46-49e1-98d6-2d3bc36c381f CLINVAR:233890 biolink:genetically_associated_with MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9113060b-c8b3-45e9-8ad3-15c69d1ba60e CLINVAR:233890 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dcf86872-0d0b-4503-bdba-8eccfadcc4f7 CLINVAR:576816 biolink:associated_with_increased_likelihood_of MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4f07f0e9-4ac1-4cb6-833f-cf4fb48f66df CLINVAR:576816 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d893634c-7e0b-4c7b-81c2-2857397a501f CLINVAR:411406 biolink:associated_with_increased_likelihood_of MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5990236d-cbe0-4302-a1a2-ce8481f09ddb CLINVAR:411406 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 521d1925-cb59-4e8b-873a-944236c6a909 CLINVAR:185659 biolink:genetically_associated_with MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fc99e623-d9a6-4535-a647-39a68ce77232 CLINVAR:185659 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 790fdf0f-5e2b-4b73-92a5-3150883ccaad CLINVAR:653103 biolink:causes MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 224d2a85-d8f0-4d3c-af8f-d0b23c24a725 CLINVAR:653103 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e50f5807-08eb-4ff5-93fe-5ba99aff6fb0 CLINVAR:3900733 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b8a51f96-1777-4350-b757-be7de2114430 CLINVAR:3900733 biolink:is_sequence_variant_of HGNC:7414 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b5d7ccff-58e2-4e7a-9fb8-d50558115077 CLINVAR:693373 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1fc38d21-c343-49b6-9914-68997db46c40 CLINVAR:693373 biolink:is_sequence_variant_of HGNC:7459 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 141fead6-efdf-4672-b12f-dae3ae2c8d2a CLINVAR:11925 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen be6007cf-8efc-4853-97fb-8b29d4e8c3d7 CLINVAR:11925 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3331ba93-bb63-4337-846b-f415e24b8c38 CLINVAR:692983 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 33a2c1b8-d6e8-402c-9629-7a419aae0f0c CLINVAR:692983 biolink:is_sequence_variant_of HGNC:7414 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 97568e9c-5fb2-411c-bf45-cb4dd02b2eb4 CAID:CA16022700 biolink:genetically_associated_with MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d2a91c33-cef7-4af7-9c61-86895ed442f4 CAID:CA16022700 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 77198283-7e31-4f20-a448-daddb02cfc47 CLINVAR:827255 biolink:associated_with_increased_likelihood_of MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen fde72d69-4993-4613-b25b-22398f7074af CLINVAR:827255 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 38032d53-3ace-411c-b337-3aefffe5d50b CLINVAR:648862 biolink:associated_with_increased_likelihood_of MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0f81a7f3-fc02-4df9-a893-95ec066790e3 CLINVAR:648862 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3b58a33c-846b-409a-9a7a-258a5947f46a CAID:CA2695201659 biolink:associated_with_increased_likelihood_of MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e74b1e19-11ee-476b-9a12-2b98388760d1 CAID:CA2695201659 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 321b04a9-0065-4e5c-9989-288d602be2f3 CLINVAR:654864 biolink:associated_with_increased_likelihood_of MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4710aa5d-cc58-4fdc-8b15-5e1e741230e1 CLINVAR:654864 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6c5f7bfe-99f4-42f6-b89d-c5b91c9153b7 CLINVAR:537529 biolink:associated_with_increased_likelihood_of MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6aa6cd2b-38ef-411c-8d07-c0c4fbefc812 CLINVAR:537529 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6b4cf303-d3dc-47dc-8308-0cf8c727b761 CLINVAR:217924 biolink:causes MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2a60d03b-ab4d-4fb2-be96-81edf6fb9361 CLINVAR:217924 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 358b304c-8702-43dc-b639-d85a381908f7 CLINVAR:690113 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fc98ae15-c8bb-427c-803f-b3ea3a05e614 CLINVAR:690113 biolink:is_sequence_variant_of HGNC:7496 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4cb8650e-a3f1-4fa8-af7e-f8d6d3fe7158 CLINVAR:411416 biolink:associated_with_increased_likelihood_of MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1d9612db-3230-4128-a678-8d9206d44e33 CLINVAR:411416 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6cd2854e-de3a-4cae-9a55-5f3d57056cfa CLINVAR:279681 biolink:associated_with_increased_likelihood_of MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4c8548fd-43e5-4da6-babb-be1f166099fe CLINVAR:279681 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 63093e5a-96b4-4adc-bd7a-2ace51401687 CLINVAR:127305 biolink:associated_with_increased_likelihood_of MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a6a72a21-79e9-4928-9b6d-bea047b435a0 CLINVAR:127305 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7cc2c016-c971-4ca4-8c9e-dd7093a623f7 CLINVAR:230520 biolink:associated_with_increased_likelihood_of MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ad89e4f9-cff6-4b02-a90e-819cb127e730 CLINVAR:230520 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen abda7295-a48d-4230-9289-7cc853480a5e CLINVAR:428166 biolink:associated_with_increased_likelihood_of MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c0452cd4-a356-46ac-a6bf-a6ab44485a9b CLINVAR:428166 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 30a2f849-b759-4ce9-a695-eafaa779e1be CLINVAR:690177 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 324bdce4-9bd5-43f9-84e0-32b7d1834e3a CLINVAR:690177 biolink:is_sequence_variant_of HGNC:7498 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bf041711-4c19-4888-9554-629a1b1b4f1f CLINVAR:925741 biolink:genetically_associated_with MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e1dafc36-2736-4004-b0a9-3ceffc2679ba CLINVAR:925741 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c5094212-f48b-48ad-9106-57077c19e490 CLINVAR:469955 biolink:associated_with_increased_likelihood_of MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c9119692-a622-4105-a88b-915c370b6cf2 CLINVAR:469955 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 66fe1a3e-0f9d-4acd-901d-8e35c6536397 CLINVAR:693513 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b5975682-4915-4867-b669-5276c866fc08 CLINVAR:693513 biolink:is_sequence_variant_of HGNC:7498 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5e54fbd7-6dfe-4df7-9ef4-5c645963f72f CLINVAR:184702 biolink:genetically_associated_with MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ead41168-641f-46d3-a131-c5190f916adb CLINVAR:184702 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e14bebba-7632-437a-9a03-fcd83e76380c CLINVAR:433614 biolink:associated_with_increased_likelihood_of MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen cc8f5750-6daa-4479-80f6-3f9b7c5c5088 CLINVAR:433614 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0da93bdf-bdf5-41dd-97ca-9e875e59f107 CLINVAR:411368 biolink:causes MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen bca7983f-3e6d-410b-aa2e-598a8c5d2ee2 CLINVAR:411368 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 45ee2140-f9f1-4fe4-9dbe-5df3573ba5b1 CLINVAR:42248 biolink:causes MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b5bec8d4-f840-4a63-8dbe-f2385a09688d CLINVAR:42248 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 15c7d696-a1c1-4364-989e-902939d923f2 CLINVAR:1361956 biolink:genetically_associated_with MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 92cac45c-2375-4abe-a327-57bd61d266b0 CLINVAR:1361956 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ace91bb4-11c4-4887-9b8d-d30f6c00b388 CLINVAR:2583432 biolink:genetically_associated_with MONDO:0021057 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9c32439a-7a04-4d70-9292-3489f5c5b37e CLINVAR:2583432 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f48c4a48-e3f5-40a3-9d92-a773a18da042 CLINVAR:2562354 biolink:genetically_associated_with MONDO:0021057 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f396c9eb-20b8-4f3b-bcc9-c9d5051a0b0b CLINVAR:2562354 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d8fda511-7915-4a97-ab5c-e610c9f7cdd9 CLINVAR:2773776 biolink:genetically_associated_with MONDO:0021057 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8b469b06-151c-4243-8247-8e8bef68279a CLINVAR:2773776 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b3ac1f4f-8e03-4f86-99c1-13f1c6edc869 CLINVAR:1050028 biolink:associated_with_increased_likelihood_of MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d2a19b3d-bde5-4e5a-b448-18c05b9040d3 CLINVAR:1050028 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 078af111-a4f2-439a-b442-fd61200679a3 CLINVAR:3892980 biolink:genetically_associated_with MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8f0a33d1-84fe-471e-ac16-300b748b111d CLINVAR:3892980 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b0725c2b-e669-452b-83a8-26a44983ff54 CLINVAR:824696 biolink:genetically_associated_with MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 00f4be6f-d92f-4bb7-8b97-9565c68293c5 CLINVAR:824696 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7c2eaaf9-0ed9-409b-ae0a-7eb6de979700 CLINVAR:411479 biolink:causes MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ac36c2b0-5cf2-45e9-bd5d-c43a0fd60c43 CLINVAR:411479 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cceecbb3-014e-466d-a081-de1b89e6f7e4 CLINVAR:438865 biolink:causes MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7a7c81db-b48a-49ec-b2d5-15e744d6bfbb CLINVAR:438865 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3b843e58-2a97-4d4c-9401-2d81325b9aa2 CLINVAR:183857 biolink:causes MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3e5d66be-e9eb-4593-993c-612bc0dbba54 CLINVAR:183857 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 325ca900-a491-4689-b6c6-038c8009a04c CLINVAR:934724 biolink:causes MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen fd8242f8-0365-4008-bb6a-2a8a15ce27f2 CLINVAR:934724 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a86f4612-9f5c-43c8-ab1c-34e0436b3ec1 CLINVAR:1056286 biolink:genetically_associated_with MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c4af0558-3901-451b-ab7d-eb2badfc0c57 CLINVAR:1056286 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 95040aaf-370f-44b2-9c2e-9bbbed5c5d3d CLINVAR:946475 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 448a8814-e1bf-4b2a-abdb-994768ac31fa CLINVAR:946475 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d11afc7a-17a5-408f-a8cd-0ed202da7f8b CLINVAR:1342107 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1af38bda-8c96-4fd6-970a-8fd49fb8a89c CLINVAR:1342107 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b4ef015c-ee72-430b-bb4d-d293e209d86f CLINVAR:866404 biolink:associated_with_increased_likelihood_of MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 311b79fe-c040-43a5-b070-3031e8386d3c CLINVAR:866404 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 75ee87ac-8aba-40ec-b5f1-1e567f9d40a4 CLINVAR:423184 biolink:genetically_associated_with MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e959ed8c-b6bd-4ad8-8443-a634760dc918 CLINVAR:423184 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2c302f56-eaac-4660-9d86-5264ce040814 CLINVAR:68077 biolink:genetically_associated_with MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6a686b73-3fb3-4b9d-8ad6-dfbfb4d4ee4d CLINVAR:68077 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 148510c5-1475-4111-af77-6e9cc49efe89 CLINVAR:371642 biolink:genetically_associated_with MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1b0d413f-620e-4a7d-b468-d810ab107852 CLINVAR:371642 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 78d2cb91-519f-4446-b36c-b73f0719473b CLINVAR:372497 biolink:causes MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f75a022e-e85f-4a66-ae9f-8ddd60e3815b CLINVAR:372497 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 30039121-e588-42dd-9cc4-a8b79c29d7d5 CLINVAR:99014 biolink:associated_with_increased_likelihood_of MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen cd6954c3-a929-46d1-808b-30502fa85d17 CLINVAR:99014 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7aea33f7-50a9-4080-b0f8-832eb5c8e839 CLINVAR:98996 biolink:causes MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3c7a2eca-7996-4e65-a279-907fc3578b57 CLINVAR:98996 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 255edc3a-be7e-48c0-b695-0835f01bb170 CAID:CA412370589 biolink:associated_with_increased_likelihood_of MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a9ce217c-c09c-488a-beca-d3400fc41ceb CAID:CA412370589 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 11281de3-07a7-4aee-b22c-5307d527c4dc CLINVAR:279886 biolink:causes MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 53e1d8d2-4154-4e60-8078-8fbce9f4ebe2 CLINVAR:279886 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3a5c6f42-4136-41d1-8ed3-81b048825fe9 CLINVAR:370754 biolink:causes MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen eeefa3d6-8eba-4861-8538-ffd6055df4a4 CLINVAR:370754 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4257d82b-144f-4b47-875d-263c7af58fd2 CAID:CA412371717 biolink:causes MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8bea35c6-ca3e-4cf3-b67b-c6690c83f0ae CAID:CA412371717 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 232bcd2c-08ea-4121-adf5-d97ab4d64c09 CLINVAR:798785 biolink:genetically_associated_with MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 11169021-566a-4e91-92a1-07b8561c1897 CLINVAR:798785 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b437c781-c051-4862-9979-751c9a9f4dec CLINVAR:98958 biolink:associated_with_increased_likelihood_of MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c9504417-ef9d-4de5-9cb6-dbf52a155d91 CLINVAR:98958 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 32aff8cb-1f3a-4574-b66d-d00177380be4 CLINVAR:98943 biolink:associated_with_increased_likelihood_of MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 735652a3-80eb-48fe-9174-0c688fe0ca20 CLINVAR:98943 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4e1b2a0c-5e24-438c-87aa-d046d96ff683 CLINVAR:98936 biolink:causes MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 027b38fa-3197-4326-b8a3-5582aaf4f7a1 CLINVAR:98936 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9a28f114-524a-473e-a540-d13ca1acdf8c CLINVAR:9887 biolink:causes MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5c4e94c8-be2b-4f9c-836c-d3a074c5142c CLINVAR:9887 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e6f5f242-6907-434d-bd0b-277c29311cfc CLINVAR:98925 biolink:causes MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ab65a179-2dcc-4283-96bc-319581337de8 CLINVAR:98925 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dafe0232-83f5-42de-b806-63c563f192dd CLINVAR:98921 biolink:genetically_associated_with MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 44488256-40d5-48a0-ba34-ed288b353cad CLINVAR:98921 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e11e4a20-c597-4314-ba21-3057fe5166ec CLINVAR:1066419 biolink:causes MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1b302ad9-28f4-4598-934f-019a4530091e CLINVAR:1066419 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 12c703b9-a888-4021-9041-b6ef59edff10 CLINVAR:449509 biolink:causes MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e7f29e07-5b8e-4654-89d4-52699da9ae48 CLINVAR:449509 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2d6d8367-ae41-4065-90b2-4edafc038bb3 CLINVAR:9888 biolink:causes MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 89e4f64c-b85b-4b66-8b9b-06bd44a520ed CLINVAR:9888 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1a68dcbf-92af-4432-86d2-451e2da8eecc CAID:CA412372976 biolink:genetically_associated_with MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fe1a05aa-5d75-4e50-ae6c-dddfb2e81e06 CAID:CA412372976 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7dd742c8-b197-48ed-823c-1234d7ea910d CAID:CA412376053 biolink:causes MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 64d13bc1-a166-43dc-96df-d38ec666d725 CAID:CA412376053 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e06ff342-0aa9-43bf-9c72-b4e32c969d07 CLINVAR:1419115 biolink:causes MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1354bd24-40da-424f-a01c-27f775089c18 CLINVAR:1419115 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0bd1dda2-f083-4f67-84cc-3874c8b65391 CLINVAR:1687568 biolink:associated_with_increased_likelihood_of MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ff93d499-bd51-4898-89be-2ff68abcb3ca CLINVAR:1687568 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 34fbd8af-89b4-4d69-a911-9e6e59736ceb CAID:CA2580650463 biolink:causes MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0addd651-a6de-41c0-9f7c-2e74997665e7 CAID:CA2580650463 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 26cf4d67-9f38-4dbb-a952-8671d44f7fb3 CAID:CA2695231369 biolink:associated_with_increased_likelihood_of MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen bdc62a02-dfe3-4f19-88a0-7bd0d0486410 CAID:CA2695231369 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 28d7934b-94f4-438d-b303-ce93c162ff61 CLINVAR:99022 biolink:causes MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7e3a44be-2081-4f66-b7bd-1812ac3cc047 CLINVAR:99022 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c5cc8b6a-6f19-46a3-a437-cd538f2bd43e CLINVAR:99021 biolink:associated_with_increased_likelihood_of MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0b03fffe-c48a-4b9b-ba81-2605ec387fc7 CLINVAR:99021 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ca2107de-2828-4d34-af3f-e7307bdb8aec CLINVAR:99020 biolink:causes MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 12873020-6b02-4615-9985-39b6ea6c0829 CLINVAR:99020 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5af42732-ac1a-413a-a020-78a27b0d2d63 CLINVAR:1063524 biolink:genetically_associated_with MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 37aa334c-21f8-4003-8e12-799207256901 CLINVAR:1063524 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen afa58038-2b97-46d5-9fcd-15f9ae0e1d05 CLINVAR:1048161 biolink:associated_with_increased_likelihood_of MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ed460bdc-a298-4e01-8e72-21e259ef7dab CLINVAR:1048161 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7d688f69-db84-4da5-b76e-c9fe65c4314d CLINVAR:1421996 biolink:genetically_associated_with MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen cd9726fd-7453-4e16-a654-7fb7e308c2cb CLINVAR:1421996 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 90a5fd19-2a39-4604-ab1a-cb1417057fcd CLINVAR:98946 biolink:genetically_associated_with MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b6a67bb7-685d-4200-8d57-2854bb25bfde CLINVAR:98946 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d1b94247-0951-41e9-842e-e7b0fa6b5980 CLINVAR:98944 biolink:causes MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b66900b5-01a6-481e-9b71-232a1e220fc3 CLINVAR:98944 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1e132dc6-766f-453f-8587-71f8a0079494 CAID:CA2695231613 biolink:causes MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c8e3d5b2-d337-463b-bb45-2019d98c9bb0 CAID:CA2695231613 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6d32b79f-c317-4274-bc25-2b286ec651ce CLINVAR:488837 biolink:causes MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7be2e670-d659-4ce0-8f46-f4261ff5635a CLINVAR:488837 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen df065321-3746-4205-8d66-93bc3170e0e8 CLINVAR:555986 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 446b7622-198e-41f0-b569-f7c90bd23a8d CLINVAR:555986 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen af7e6127-1751-40be-b1b8-2e6466354bd1 CLINVAR:501793 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a9f88241-a5df-4666-8fbb-389a31d5b4bc CLINVAR:501793 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fa510d91-22bb-48f5-9804-3abe97836c83 CLINVAR:2160730 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ab696310-1d5f-4738-b625-c4cee9a2c682 CLINVAR:2160730 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 39707b11-3db8-4c58-ae5d-583d1b9b9dc1 CLINVAR:571521 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c4120b26-9250-4005-9c15-efa743d60bde CLINVAR:571521 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9dd17f91-a056-461a-b3d4-1d671fc5af33 CLINVAR:281056 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 58abc529-8296-4b4e-aa15-93dbcec5156b CLINVAR:281056 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e51bb1af-8515-465b-9972-e0b7b0fdf617 CAID:CA913187388 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ccab5311-c390-4d5a-b078-1f5c635bef62 CAID:CA913187388 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 10398029-68df-46b5-9dd3-91081cdd9497 CLINVAR:98732 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c5a75e18-7064-49ad-9dc4-df18222dbf5b CLINVAR:98732 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen efa3e6d4-e61b-4855-a1f2-63e2b9c5bad4 CLINVAR:236481 biolink:associated_with_increased_likelihood_of MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8f474d35-ebac-4856-821c-f084ade198a6 CLINVAR:236481 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0ca7c3b5-a1f2-48d1-946e-465dabf66dd4 CLINVAR:92858 biolink:genetically_associated_with MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 06c880cb-21b4-4730-a8fd-83ddc94b3626 CLINVAR:92858 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 89211965-ef33-433e-a546-f0d2cdd8491a CLINVAR:98796 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3b3944cf-bc4a-414a-bab4-f11decec5ea8 CLINVAR:98796 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7351cec6-6cca-444a-8709-acb284bc0b95 CLINVAR:1317013 biolink:genetically_associated_with MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6068b2bf-5878-499a-afdb-5133f13529a6 CLINVAR:1317013 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7a45d5e1-8a92-46f6-a0ae-37c8349f6dac CLINVAR:143094 biolink:associated_with_increased_likelihood_of MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen bdd9e83b-3d29-470e-b3ac-56c9719e5334 CLINVAR:143094 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e09d2f0b-d96e-4886-8b1b-4f3232004589 CLINVAR:1213923 biolink:genetically_associated_with MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b71a2819-cbe1-4eab-a504-fc183704ca05 CLINVAR:1213923 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ecfc9732-e325-493a-8e63-b9a7039904e7 CLINVAR:236483 biolink:genetically_associated_with MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 72ac4606-69a8-43bd-9b37-6d98f0432eac CLINVAR:236483 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0ea9a711-d402-44dc-848b-d35c6965f070 CLINVAR:9899 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 03032d94-52e4-4bca-9201-09225eede4be CLINVAR:9899 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen be93e84f-f52e-496d-9926-e02fa9028475 CLINVAR:98802 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c1aa9c50-82b5-4e79-908e-b3473aa64731 CLINVAR:98802 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen af003b9f-8deb-4a1d-ab67-0e1e0e029ce6 CLINVAR:198414 biolink:associated_with_increased_likelihood_of MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 08b212d2-9e23-4eab-b80a-76702ce4bdd3 CLINVAR:198414 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 26970191-88cc-4e24-9fc7-3e366360bd8b CLINVAR:449508 biolink:associated_with_increased_likelihood_of MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8339b700-35a5-4b80-9bb6-de11f1dd6347 CLINVAR:449508 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 73061066-7da6-4767-984c-0645b82d496a CLINVAR:1497214 biolink:genetically_associated_with MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 03043440-f1ca-4d77-ab14-29f373565b66 CLINVAR:1497214 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7dc49fc0-571c-408b-97ec-00d349ea0cca CLINVAR:812421 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0d19e31b-631e-43a9-8d7e-a64b200cb64e CLINVAR:812421 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 69126e1d-3a79-48b8-b4e5-5b30c4de1e94 CLINVAR:636203 biolink:associated_with_increased_likelihood_of MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b6c9094a-5480-43d8-a2a1-49e5b90789b8 CLINVAR:636203 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bfcff4c7-e6f7-40f2-a23b-84146d2770f8 CLINVAR:9897 biolink:genetically_associated_with MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 295684e6-eaed-4ffc-b62a-68c5d5b9eb2a CLINVAR:9897 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e8fe8eef-71d5-4bda-9734-7bf49bff4a0b CLINVAR:813227 biolink:genetically_associated_with MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f9296b70-7429-429e-a688-b0cc1ea52695 CLINVAR:813227 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3e7e4554-ac9d-4a9a-9be9-05db0f0ff1b6 CAID:CA412725852 biolink:associated_with_increased_likelihood_of MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a2641bc0-9f2b-4622-9765-9971530d4baf CAID:CA412725852 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 484bb703-da29-478f-8ab6-e73df9bb513e CLINVAR:931960 biolink:associated_with_increased_likelihood_of MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6ee6aa02-47fa-40ab-8714-c04d864efe37 CLINVAR:931960 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 64ac798d-920f-4ed9-8243-871377ac8283 CLINVAR:1012373 biolink:genetically_associated_with MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3db43bf7-dba5-4065-81ec-1020661668df CLINVAR:1012373 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 59ce0a52-8e1e-4f11-a5c6-dad601c2b8bd CLINVAR:810564 biolink:associated_with_increased_likelihood_of MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen afffa115-19b8-48a6-95d2-6059eb6f17c5 CLINVAR:810564 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 66c27553-fed3-4714-9856-3c9778cbe4c7 CLINVAR:280089 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2c3dbf10-60d9-4c2c-924d-5fa1867ff72d CLINVAR:280089 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6e0055ca-fc16-490f-b3ef-9a513fee8e52 CLINVAR:1356123 biolink:associated_with_increased_likelihood_of MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 25ce8d4e-a5ef-4417-ae85-5200218285af CLINVAR:1356123 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e41b0ecf-8c0b-4fe6-88fc-b2fac16d31e3 CLINVAR:867211 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7f622ce4-edb1-4197-891e-565310fa6253 CLINVAR:867211 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a95a9cf3-d2e1-47f5-b041-2fb880aedff0 CLINVAR:3028605 biolink:associated_with_increased_likelihood_of MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b4ecff89-e5e1-48a9-916b-9b26ef081ff1 CLINVAR:3028605 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6c2406cf-3d44-49c3-bee1-75195c67eb1f CLINVAR:1048123 biolink:associated_with_increased_likelihood_of MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7d5e5ed1-fd78-48c3-b12f-667317ae4f6d CLINVAR:1048123 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 089bb0a1-c642-4969-bb7b-5822cbff34c2 CLINVAR:1172696 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9b8e019c-6508-4671-b67d-df36a2940bb4 CLINVAR:1172696 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8c1faac0-4b8e-4fb5-9343-151c32c2a978 CLINVAR:91389 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b6d27cdc-9029-4b74-a03f-b9ce20ac5a67 CLINVAR:91389 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eaaad9e8-38f1-405f-bec8-d9b90154a3b1 CLINVAR:438142 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 85cd77f7-a604-4856-b6ab-9a95c68797a9 CLINVAR:438142 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 97c8c51d-851f-4deb-864f-15ec10dfcd43 CLINVAR:866109 biolink:genetically_associated_with MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 00ef86f3-e40f-424e-b7b8-1a906873de84 CLINVAR:866109 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 15321d54-b605-40e0-a607-47b8e0bcb76e CLINVAR:9902 biolink:associated_with_increased_likelihood_of MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8c0ca099-9b9d-4493-b271-71a10962a47d CLINVAR:9902 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4c692d5b-f28f-4153-abfe-26b068a5f1e1 CLINVAR:642531 biolink:associated_with_increased_likelihood_of MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b95dd4f9-d77b-4b7e-94d0-56c33c4dd4b8 CLINVAR:642531 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 188e4cb3-6ce8-42f8-af76-1d03253417c5 CLINVAR:690133 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2d2e992d-4d9a-4267-b223-65aeb237c0dc CLINVAR:690133 biolink:is_sequence_variant_of HGNC:7487 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e2eed385-aa49-4002-a680-c93fcd3bb6d8 CLINVAR:692855 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1abf08e6-f946-400a-8a86-36d68fca5aea CLINVAR:692855 biolink:is_sequence_variant_of HGNC:7415 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 43b668c4-4a5a-46bc-84e5-c8906be6433b CLINVAR:567566 biolink:genetically_associated_with MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fd64e6e2-373d-49aa-b4f8-165822a34617 CLINVAR:567566 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d07714bf-ef60-486c-a726-1285c8b5414f CLINVAR:1458772 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c71235ff-f6e9-4c67-8b70-3358fa8516c4 CLINVAR:1458772 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e0f7f8cf-4e69-41d7-af70-3e83fbd0cb3d CLINVAR:193062 biolink:associated_with_increased_likelihood_of MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 17fe2c02-7dc4-479f-bfa7-115356640ad5 CLINVAR:193062 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 25ef53df-c96f-4675-a114-aeb3aeb6a5ff CLINVAR:801086 biolink:associated_with_increased_likelihood_of MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a052dac3-6faf-464f-9bfc-0e6d53b1b3e7 CLINVAR:801086 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 756450ab-5aea-4a19-abe0-aba8f78be11f CLINVAR:125519 biolink:causes MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 27ea5a74-c60a-4d16-93dd-a226b98d78e2 CLINVAR:125519 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4057b928-2988-4da2-9967-57d5213fe7d5 CLINVAR:409353 biolink:associated_with_increased_likelihood_of MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 699eeb6a-b643-4ee7-ae13-b5b4c644f307 CLINVAR:409353 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0b9cc080-1b0a-4100-b255-de8cdb12d521 CLINVAR:631061 biolink:associated_with_increased_likelihood_of MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c3d93c12-5232-46ca-90ed-0f7b6727d351 CLINVAR:631061 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9988cb55-c1d1-4a87-997b-d6dc153e09f2 CLINVAR:441298 biolink:genetically_associated_with MONDO:0700269 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b350d013-ded9-4e24-ba7f-9f86cefad6db CLINVAR:441298 biolink:is_sequence_variant_of HGNC:1101 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ae2212a3-9a8c-44af-8c2c-fbabdf8a9c28 CLINVAR:230862 biolink:associated_with_increased_likelihood_of MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e96becbb-f8e3-4ae4-8faf-f4c9eabe419f CLINVAR:230862 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7ee09c38-113c-49d3-b6ff-0ceb105f4dda CLINVAR:142617 biolink:genetically_associated_with MONDO:0700269 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7c0e53b8-82f6-4fd4-98ac-3a89518b93e3 CLINVAR:142617 biolink:is_sequence_variant_of HGNC:1101 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4d7b449c-7d89-429b-9d61-bd1dd74f8379 CLINVAR:568479 biolink:genetically_associated_with MONDO:0700269 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 71b498f9-75cd-4118-bd86-821f924c943d CLINVAR:568479 biolink:is_sequence_variant_of HGNC:1101 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 497b1eb0-7054-4527-953d-c30c1f9faeb7 CLINVAR:531302 biolink:associated_with_increased_likelihood_of MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4de142f0-8382-4242-ad54-3f558c5e9da2 CLINVAR:531302 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 997a3823-6d63-4d83-a197-4482efad8c74 CLINVAR:125777 biolink:causes MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 94a81d5b-e2c4-4e1a-a66b-b3aca2215737 CLINVAR:125777 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7c598fc6-a793-4d05-a5d2-8f592e274ce1 CLINVAR:483130 biolink:associated_with_increased_likelihood_of MONDO:0700269 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3180cb29-a2c2-462f-abc0-9188adca7d46 CLINVAR:483130 biolink:is_sequence_variant_of HGNC:1101 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 27a1c6e8-98c2-4e28-afb2-ecd56d31a1df CLINVAR:927378 biolink:genetically_associated_with MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6c443f0f-e513-463a-a705-976f88f4a368 CLINVAR:927378 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9e05497d-e134-4ce4-a3a5-26c60079dbb2 CLINVAR:656566 biolink:genetically_associated_with MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8a0fc443-15c5-46b1-89cf-2948e077314c CLINVAR:656566 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fa39ab13-b3d2-44ea-8815-ef2f3ca98fe6 CLINVAR:96950 biolink:associated_with_increased_likelihood_of MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9b03a9ce-73c0-49f4-8db8-91f27c9995ab CLINVAR:96950 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b4e3f7f0-c9fa-452b-b377-fc01cfeb4a31 CLINVAR:55383 biolink:associated_with_increased_likelihood_of MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 91f9d534-5695-4424-b257-a30226998440 CLINVAR:55383 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 369f855f-834c-4711-b146-911478b51867 CLINVAR:232955 biolink:associated_with_increased_likelihood_of MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8990180c-359a-4f6c-bd20-611fd7b1da6c CLINVAR:232955 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 43fcf358-93e8-49be-b6f9-ff254595558f CLINVAR:575178 biolink:causes MONDO:0700269 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 43366005-2acf-4aec-b900-f52b7c258691 CLINVAR:575178 biolink:is_sequence_variant_of HGNC:1101 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fa7c13cf-d29b-4836-a671-880307a30dab CLINVAR:438744 biolink:associated_with_increased_likelihood_of MONDO:0700269 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1176818e-fd83-480b-9e2f-e2a0e379f36a CLINVAR:438744 biolink:is_sequence_variant_of HGNC:1101 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0ea8991b-e31d-4089-aad5-d679a7c1bd6e CLINVAR:551563 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8ff447f1-ecb8-4a2a-8a55-fc61db0192e1 CLINVAR:551563 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9f8cdd93-3e4f-4964-babe-51a9222950c3 CLINVAR:3233261 biolink:associated_with_increased_likelihood_of MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 482b2dc8-235d-4655-8a7b-8b5a8f3f5a6e CLINVAR:3233261 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 57223689-e758-4abb-abcc-af692d325321 CLINVAR:3906899 biolink:associated_with_increased_likelihood_of MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3ee55408-1826-44d5-ab66-4fc5611a83e9 CLINVAR:3906899 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f10e2283-61b4-48a2-a451-851a1441c363 CLINVAR:2498386 biolink:genetically_associated_with MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9a6d15a8-1e5c-4c82-b745-3f980d0f7029 CLINVAR:2498386 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 187feafb-4237-46eb-a79c-8960a5484ace CLINVAR:474890 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 515bd777-ac74-456b-995f-0f6182d24dd7 CLINVAR:474890 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8e2910f8-4ec0-4572-b4d3-abe5e7e31557 CLINVAR:693726 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b214f461-4186-4016-957d-5613d19ee53b CLINVAR:693726 biolink:is_sequence_variant_of HGNC:7462 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2a7c9d9d-905b-4dc0-99a2-0ea2ae47f94d CLINVAR:3900732 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3d1eb41b-6c66-429d-a277-244dc5733de9 CLINVAR:3900732 biolink:is_sequence_variant_of HGNC:7455 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fa1e1fae-23b6-4471-b8ae-1a9e620ea078 CLINVAR:693057 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 128566f5-bc57-47c2-93e0-a9f8fbb2a33c CLINVAR:693057 biolink:is_sequence_variant_of HGNC:7414 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e0495068-528c-4c83-bed6-c9f973475d6e CLINVAR:9584 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0e9805d0-db94-429b-bac5-1f7f91f78bb2 CLINVAR:9584 biolink:is_sequence_variant_of HGNC:7414 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b09a47f8-29ae-4293-9d92-ab632d2491dc CLINVAR:2716683 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b8ffc664-78a5-4de7-9ae0-b0b918886db8 CLINVAR:2716683 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 43ab82c2-31e7-42ec-91fd-10923e516f4d CLINVAR:3063964 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2dfa8c1b-6614-4b4b-9f51-c0e871372f4a CLINVAR:3063964 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 516b039c-be8c-4e66-b532-923d0aea5cd8 CAID:CA409108099 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 91b195d0-04e5-42f0-a514-427bb4c22e65 CAID:CA409108099 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a24dad08-77c8-48c6-9be8-b234088e6c97 CAID:CA9870403 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e85e3748-b4dd-4cf4-b7c7-251b8341a245 CAID:CA9870403 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ab1b26f6-9a68-47cc-a0d7-fdcdb4a9b85f CAID:CA409109838 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 03168750-9b5f-4650-a527-911ad4213244 CAID:CA409109838 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a4163293-d4d8-4eae-95a1-5fe986a25682 CAID:CA367400174 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c862b551-c942-4005-802e-a53c9b84e99f CAID:CA367400174 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 60399c22-ffd5-4cef-87ff-2d7c07580630 CLINVAR:1705456 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c60cba94-c069-4d08-8a67-a7dac7724638 CLINVAR:1705456 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 36f2e755-73a6-41b4-9180-7de9b2026985 CLINVAR:36268 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d4388f93-8f70-4f65-a41e-49a16a844b1a CLINVAR:36268 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 27e49099-eda8-4096-a10a-bbfbaedf1a42 CLINVAR:804853 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 20e4f92b-a1b7-4354-84ee-4cb1cd2d8179 CLINVAR:804853 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d11562d1-9378-4cdd-bc1f-91f7b7b79dd6 CAID:CA2837995533 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a87a9702-c986-470b-80ac-9c980f689f43 CAID:CA2837995533 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen abf8e615-3a24-4d2f-94cd-cd10069bfca7 CAID:CA2850445536 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 350ae24c-970f-433e-913f-deb5699b1681 CAID:CA2850445536 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 041fe678-a312-4bd0-8c8f-9708d75fa171 CLINVAR:1691363 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 314e153b-fcdd-4c71-8de4-ee7ae9ef0fcf CLINVAR:1691363 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 97ec6c73-b3e7-4f72-b47c-24bead030d83 CLINVAR:36168 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9d679a6a-5b05-416d-9a61-9597d99f78a8 CLINVAR:36168 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 41088093-3d4b-48ba-860e-757dae9f7bf7 CLINVAR:36179 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 490acb49-b636-4ee9-b9be-3892f758d5f2 CLINVAR:36179 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ae820dc9-a8cd-4c70-ba04-64a6737a0ae2 CAID:CA367398715 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen abf74463-0773-4ed4-9ee1-d1eb82ba10a4 CAID:CA367398715 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen de882848-cede-4e82-aae2-c823b981e303 CAID:CA367398710 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c5872db1-faf4-4a72-87bd-8517b83ae529 CAID:CA367398710 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bc182828-9970-4dea-8b07-a906c98bea54 CLINVAR:982610 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 893ee90a-1f21-4ec5-8604-f2a19d7015aa CLINVAR:982610 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 793a092e-2253-4ed1-b003-d62eacc481c2 CLINVAR:618728 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e75005cb-66d7-4269-95a7-6158a02f04ba CLINVAR:618728 biolink:is_sequence_variant_of HGNC:7459 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4f3810cf-60ff-42c3-a738-fc9dc2ffeeda CLINVAR:618217 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 44e774a7-e896-4a34-8e89-043f6ba2b8d9 CLINVAR:618217 biolink:is_sequence_variant_of HGNC:7460 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9629e867-6585-4b6e-a529-4a3ec1234895 CLINVAR:377340 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ad13e3ec-3c86-4e2d-8d33-1418f93127a7 CLINVAR:377340 biolink:is_sequence_variant_of HGNC:7455 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a0912f1e-e71e-4c4d-8e82-90462163be85 CLINVAR:618720 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 78d714e8-f8ef-40f2-a5de-aaae36f3dd77 CLINVAR:618720 biolink:is_sequence_variant_of HGNC:7415 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 36c66a96-f848-483e-83bc-f7bc97428645 CLINVAR:465208 biolink:associated_with_increased_likelihood_of MONDO:0009595 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ba6c08a5-8172-4f46-a9b0-86a86f294c74 CLINVAR:465208 biolink:is_sequence_variant_of HGNC:10031 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d725f441-0860-4ffd-99dc-7c55cf3481d8 CLINVAR:9582 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a96b33b8-2e9b-4cb2-92ca-48520e4678b7 CLINVAR:9582 biolink:is_sequence_variant_of HGNC:7489 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d06872bb-ad7e-4bb9-bdd8-9c4420c550ed CLINVAR:252021 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3aa86127-e83f-4c8a-8e6d-9b909d91ef05 CLINVAR:252021 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ce4c43be-5a12-4ed3-bb3a-bbafa629f824 CLINVAR:252052 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 23c993b2-5017-4ba5-b8a5-cabbc0bf00e1 CLINVAR:252052 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 21a069f2-d43f-405e-9a7a-4889b3a36e16 CLINVAR:1171684 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f55da68a-d6f6-4060-a142-9fd043b7599a CLINVAR:1171684 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2f9f91e4-5945-42b3-8b4e-1c0a1a360886 CLINVAR:9652 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2b051e72-46b2-4f26-9618-4bdc06b1c3ba CLINVAR:9652 biolink:is_sequence_variant_of HGNC:7422 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 033ed6dd-a933-4a95-9580-149369936fbf CLINVAR:235260 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 28c098c9-ba68-4ef0-a7d0-cf846acf1c1e CLINVAR:235260 biolink:is_sequence_variant_of HGNC:7414 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1e2b4a7e-4bce-4709-b46d-84bb0195d9b3 CLINVAR:254354 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen aed436af-2b75-4146-a55d-513b42a92728 CLINVAR:254354 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2565c38b-a0f5-4a74-80e3-d32324fa2f47 CLINVAR:692346 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen df522430-6ac5-4a9c-adc2-4107d1a30372 CLINVAR:692346 biolink:is_sequence_variant_of HGNC:7455 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 76d0962b-dea0-4e26-afd8-193872f97fcf CLINVAR:933083 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 53d9ef8a-bd0c-48cb-a8bc-e0036e33ccfe CLINVAR:933083 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 02accec2-8e57-4e07-ba56-25ac2310d2e4 CLINVAR:933091 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e90335f8-7529-4cae-b2af-094db11e1cf9 CLINVAR:933091 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c31afcb7-5eeb-4b7e-bc1d-bc57d143cd2a CLINVAR:933010 biolink:associated_with_increased_likelihood_of MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 32cafeec-8dcf-4d9a-badf-8933f87ed77a CLINVAR:933010 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6a0f6def-d97f-4518-ad24-0d7e3513b733 CLINVAR:9721 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen af840a66-06be-4aff-9430-757cddca1b28 CLINVAR:9721 biolink:is_sequence_variant_of HGNC:7456 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4ea46a95-ec3a-4e02-a522-1797b3f3e28b CLINVAR:9699 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7b920270-9ed5-4275-94c5-8517bffcba25 CLINVAR:9699 biolink:is_sequence_variant_of HGNC:7456 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8d658136-d143-4dad-a605-ae366887f1cd CLINVAR:9704 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 14d57232-a9c0-4a67-8316-96eb4ee2842d CLINVAR:9704 biolink:is_sequence_variant_of HGNC:7461 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5f125b2d-7de7-4708-9499-58a2a338a02c CLINVAR:1338262 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9aea8090-ce01-42cd-9485-ff17508f73e4 CLINVAR:1338262 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 46ef48dd-f834-4ebf-9d0d-61104696f02f CLINVAR:224543 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen dfa073b4-7c90-4a77-bdd1-bc6ccfce1525 CLINVAR:224543 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e5021530-3005-4b1c-971e-f02f74c7c390 CLINVAR:536548 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4c5c0080-54fc-443e-a995-adda0b589835 CLINVAR:536548 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fbd1a2bf-3c6c-4213-86a4-5c4f36efd003 CLINVAR:497201 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e0451854-18fa-48d8-8c4d-7373bc60b6d9 CLINVAR:497201 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ae7ac1bb-0f18-4f57-b39f-5140374f21b4 CLINVAR:281505 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 65053809-7e43-4cae-af87-29f3b1de8111 CLINVAR:281505 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4e31d443-a66e-4a15-952f-9eefd3b0e670 CLINVAR:282494 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 03ff4584-471d-40fa-84e2-d060e3d737ee CLINVAR:282494 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0d69badf-1df9-4c52-a9bb-508273b233df CLINVAR:282173 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 77156a8b-b456-4253-ae6d-072e801f4866 CLINVAR:282173 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 34d8b249-e033-462a-9874-280d84e0cad7 CLINVAR:194691 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0ff2d403-999b-4817-b545-5df9f07c33c2 CLINVAR:194691 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 26e8b30e-c9fb-4493-9f70-b5df811f1f86 CLINVAR:283099 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 58ff9197-f2b1-450b-b0a6-2e0319644707 CLINVAR:283099 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 787f73f5-7661-4ffd-84a9-baf25fc93580 CLINVAR:370730 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 21c556ac-abd3-4e1d-918e-170408b48cfa CLINVAR:370730 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9a9f766e-4b55-4c55-a70d-abfb029ec104 CLINVAR:2441107 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 69f44b36-d42c-44df-934d-e07b21ada5c4 CLINVAR:2441107 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7d2ae38e-3e38-480e-8216-d4ace411e724 CLINVAR:498619 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1d19de9d-66f4-473c-a164-ac5db2d9dcf4 CLINVAR:498619 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0e626d6a-5e50-4299-8088-4ebca6b1f603 CLINVAR:2674975 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2f88c817-ecd0-4bd5-a7ae-24dd64d14aa5 CLINVAR:2674975 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5514bd98-8f64-4b39-81c7-867971d6da2a CLINVAR:639814 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 139df5e7-c64c-42cb-9757-77ac979fa6e4 CLINVAR:639814 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f78d9ede-81f8-4b65-9753-b70bb96898cc CLINVAR:596644 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7f146ff2-2ccf-4462-b578-97925fda1d1f CLINVAR:596644 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f63e30b4-4b41-482d-9c05-67629c3d0157 CLINVAR:1685801 biolink:genetically_associated_with MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen bfe3c5a0-3ef2-4175-bb50-5d9b9b5fb82c CLINVAR:1685801 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6fcf2aa5-c9a8-4c31-a3c9-94295007dd5c CLINVAR:2136509 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen aadc4d9b-5709-4856-a0ef-55474e44845e CLINVAR:2136509 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f44d87f8-1fa2-40d5-81b3-8e67e9bbf3b0 CAID:CA367398723 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 440fbdf1-7190-4dd1-9e88-0dd2f323ef50 CAID:CA367398723 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 96ea6ed1-a903-4de8-9aeb-0c7c19b1f874 CLINVAR:995100 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 24b257ce-43b5-40a7-be6a-604c2e473597 CLINVAR:995100 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 227c3eef-1eb4-413c-b4f1-b2ca96083fdc CLINVAR:1734018 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0ff0b15b-9323-4c3a-b32f-08ddce6b164b CLINVAR:1734018 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 37f11c1f-6f1a-4383-b83d-22d0823a236d CLINVAR:804836 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 267dfff8-36ba-4a14-899d-1c0df5702a37 CLINVAR:804836 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6b3cf88d-b6a3-49ba-a696-79ab99b1cdb9 CAID:CA355962322 biolink:associated_with_increased_likelihood_of MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d29f4e4a-6078-4a0f-a20c-90c4fe7cef6b CAID:CA355962322 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 13f269d7-2e79-4023-8df2-7a0ea2ff3f64 CLINVAR:1468875 biolink:associated_with_increased_likelihood_of MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ec127f4f-b190-448b-b8dd-d8d3fa4d8f63 CLINVAR:1468875 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7846ceac-f503-4877-a3d6-293d6fcc1592 CLINVAR:496834 biolink:associated_with_increased_likelihood_of MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d48c7b68-e643-4e57-9eba-d50eb28209ca CLINVAR:496834 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6f5962e1-4a64-4cee-811a-5474dc4aa2b8 CLINVAR:280976 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d9bd1b57-de2c-47ba-a19c-993455017ad6 CLINVAR:280976 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8928fe07-93ef-43b3-88ba-21786818a97b CLINVAR:2152483 biolink:genetically_associated_with MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0309969a-a0f2-438c-b9cb-83f952a88643 CLINVAR:2152483 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6bc30020-098f-4da6-b3fb-11860d5b6573 CLINVAR:222996 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 85015494-e9af-4df8-a28d-e61c4617de6b CLINVAR:222996 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cb63df6f-996c-41dc-98c5-165f07e383b4 CLINVAR:286242 biolink:associated_with_increased_likelihood_of MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c24afe26-1c8f-45bf-b1a8-50e216784e94 CLINVAR:286242 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8835672a-1f57-4d9b-9367-b31bfd40b8bc CLINVAR:950889 biolink:associated_with_increased_likelihood_of MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3b902263-2e16-4532-af9c-3be1e36e75b9 CLINVAR:950889 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b2e6ed68-a003-4ba9-a8b8-63c8b9a907d1 CLINVAR:550799 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen dbf8a3ce-2069-4ca8-88c2-43a35e3ae7b9 CLINVAR:550799 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 02160988-d2b6-4b4b-b3cd-4b8b49ff6f69 CLINVAR:265418 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7e348fb0-cc53-4ea3-9be8-823fb71b12e2 CLINVAR:265418 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f25f5b07-bff8-49b1-8be5-6a7278554d08 CLINVAR:652306 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5ec2c8df-2789-4600-87e3-61e1c2fde16e CLINVAR:652306 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e0d6c53b-f114-475a-a310-1b5ec38cd376 CLINVAR:553173 biolink:associated_with_increased_likelihood_of MONDO:0009595 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 603632a9-db8b-43ee-abf8-50de57275f9b CLINVAR:618502 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 51e48b69-6df8-4f5a-ad4f-e5ea557a9250 CLINVAR:618502 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b7090923-646e-4421-a7a2-78f0f5a40825 CLINVAR:474879 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6ccba9c6-51a8-4980-ab37-da8fe2d814fc CLINVAR:474879 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 965cba2c-1a5a-4686-9918-af1864a0e71c CLINVAR:639569 biolink:associated_with_increased_likelihood_of MONDO:0009595 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f0bdb795-0671-49eb-a12b-939425489cf0 CLINVAR:639569 biolink:is_sequence_variant_of HGNC:10031 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5d2067f5-b0ab-4130-8c8a-77658098ac98 CLINVAR:383542 biolink:genetically_associated_with MONDO:0009595 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen de8a6582-398a-4c15-b7fe-376f648739c4 CLINVAR:383542 biolink:is_sequence_variant_of HGNC:10031 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 97fbc75a-2226-47fe-a0b4-f145973f53b3 CLINVAR:1942331 biolink:genetically_associated_with MONDO:0009595 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 289676e7-b1e9-4146-bf85-c5ccb063a3fb CLINVAR:1047359 biolink:genetically_associated_with MONDO:0009595 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 165ef869-f348-43e3-a5e6-09abfb00196e CLINVAR:552081 biolink:genetically_associated_with MONDO:0009595 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 26786e02-853e-48bc-ba70-21375ba476d8 CLINVAR:970368 biolink:genetically_associated_with MONDO:0009595 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen eea8152c-02e9-4d48-b43e-c884d3048695 CLINVAR:558632 biolink:genetically_associated_with MONDO:0009595 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen feefc76c-99cc-4568-8004-614e7c3b0a0d CLINVAR:558632 biolink:is_sequence_variant_of HGNC:10031 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 85adb0de-5b8d-4398-9224-4df1b369c321 CLINVAR:556949 biolink:genetically_associated_with MONDO:0009595 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 355c00b5-7595-4639-994b-09551a4f8696 CLINVAR:226361 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3a97db6d-3f16-4c4e-8e82-163ce640cd84 CLINVAR:226361 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d501ec0f-822a-4c4b-873d-d9e2c791bb40 CLINVAR:3073518 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e293afce-f3ff-4a1a-9336-8cf368c50d5e CLINVAR:3073518 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9b15bf6d-04be-4b61-9e4a-fba2c06e98be CLINVAR:251855 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fde020b8-71b6-4b27-83f9-b266a7da143b CLINVAR:251855 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ad76b2c6-2bec-4b2c-96fb-7d209d41dc9f CLINVAR:328055 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a6bfa0f2-2071-4c2c-939e-155560eb6563 CLINVAR:328055 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ba60a482-bccf-4350-9703-b33e0655cdc2 CLINVAR:375815 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d654f4e1-aace-4128-94bb-9d4755e5ca43 CLINVAR:375815 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9d971036-9b4c-4bee-81f7-ebe6f1d20e9c CLINVAR:430690 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7134dacd-faaf-4269-aa95-6d0996d51106 CLINVAR:430690 biolink:is_sequence_variant_of HGNC:7421 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3aef2709-df57-425e-9b97-51da8a4e3c5a CLINVAR:3758005 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4f5bceb1-6eb6-4a15-bc7a-9e7b43c3c057 CLINVAR:3758005 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9c9f22f8-f5dc-447e-9488-9c9748c34108 CLINVAR:98851 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2debf1ab-6026-44ef-bcda-962687ecc2c3 CLINVAR:98851 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8b9b8e3a-0ca8-4264-b175-dba82e7f2c5a CLINVAR:2202769 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c9a4b794-1f7b-44c9-97a6-7b3413f1a058 CLINVAR:2202769 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 274796d5-c4ae-4665-b1e7-dfdcb6ae949e CLINVAR:973961 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 02a24d00-40bb-4e45-808e-7250331d0712 CLINVAR:973961 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b639ec47-a4bb-44e8-b042-531d2dc5bf6b CAID:CA340740587 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ff609a35-04b3-4ffa-84f5-f67a615041cd CAID:CA340740587 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b3b0324c-11a2-40d4-9695-d92e301f7aa1 CAID:CA2586966740 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8d83a82a-21e2-46aa-a278-e079309d647e CAID:CA2586966740 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c6d8945c-2909-40a9-85df-58a9c97c549f CLINVAR:801494 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 118e600b-f79b-4df4-9081-962da71aee61 CLINVAR:801494 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2f871591-ddfe-4bc6-8aa7-29307f8b9459 CLINVAR:98858 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c6785e57-08eb-4f3a-9052-6590f7ca2729 CLINVAR:98858 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c623cc9c-b736-4ed1-b1bd-ebf871420d95 CLINVAR:98864 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0a0bd734-5b27-414c-a6a0-2b11afb68374 CLINVAR:98864 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d791d03c-4069-4414-9eba-e31339d48288 CLINVAR:978980 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a615481a-4d2d-499e-b8f0-51d60d2f503f CLINVAR:978980 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1484975b-ff80-45cc-8392-3be22f7e0371 CLINVAR:9661 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0b80b54c-c1b0-4942-a48c-3ff0a899e93a CLINVAR:9661 biolink:is_sequence_variant_of HGNC:7421 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen afde35c2-7340-4aec-a55b-2324a979fb44 CLINVAR:488349 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 93d92001-1a9e-49db-b568-732ce561af87 CLINVAR:488349 biolink:is_sequence_variant_of HGNC:7421 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f243da8c-7e94-4a26-9f7d-88f1faa8dc75 CLINVAR:9655 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1a3a3ebf-3dbe-4120-8d15-a0d3548b4215 CLINVAR:9655 biolink:is_sequence_variant_of HGNC:7422 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7e5ee610-5ac5-49b9-9177-53b0bbcc59e4 CLINVAR:805947 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2219f37e-6d1e-47c0-812f-21a05fc1ad3d CLINVAR:805947 biolink:is_sequence_variant_of HGNC:7479 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ecdad359-25fc-4797-bbee-c7286958d741 CLINVAR:252192 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 06e180c7-6ba5-4206-9277-8dbe0847f905 CLINVAR:252192 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 25c0d347-345f-4ee2-976d-f27b89484b8e CAID:CA404093661 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3570c992-6f17-4dd8-8ae0-9c3818df34cf CAID:CA404093661 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d907fedf-c0a6-4da5-821e-23a66db1b239 CLINVAR:1785078 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7709db40-1a8c-4fd7-b965-e01d1981dea2 CLINVAR:1785078 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5a43f3d9-c822-4ab4-96c2-65afc391ce24 CLINVAR:328052 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2dd8b1f3-6eb8-4bc0-ae8e-eb70c1874539 CLINVAR:328052 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen afeb1d02-cde4-4829-8108-cf6398c37a50 CAID:CA399791662 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 78425f3f-8f30-4976-b444-a587e0a73044 CAID:CA399791662 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e309b960-e9b3-4468-9c89-ead8fcce6947 CAID:CA400022022 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2cbfd84e-b3c3-48bc-b377-eb06cb80ad04 CAID:CA400022022 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2ef95d45-3a1f-441b-867b-daf18bd5dd70 CAID:CA658760377 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen cf3501ee-f7f0-41ca-8ce6-975e437d3053 CAID:CA658760377 biolink:is_sequence_variant_of HGNC:4444 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 999b066d-7dd8-4c7c-83c5-b36cd0271833 CLINVAR:2734558 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7e7099b2-452a-449e-b3e9-8cd9a668f280 CLINVAR:2734558 biolink:is_sequence_variant_of HGNC:4444 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 720f1016-236a-4da2-81db-782ef75099c5 CAID:CA2695224143 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 40d5ec53-fb83-479c-8cfd-cf27a879a5f0 CAID:CA2695224143 biolink:is_sequence_variant_of HGNC:4439 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d4fe0841-b56b-46f8-9782-d1fda27d1b91 CAID:CA410677562 biolink:genetically_associated_with MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2ce99bf5-7bc4-4e50-a279-d694c521693e CAID:CA410677562 biolink:is_sequence_variant_of HGNC:4440 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d7931452-5398-44c4-8be4-9e9d7416e31e CAID:CA410677579 biolink:genetically_associated_with MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6e00ae42-6f42-48ec-a66a-46ef8e24f75e CAID:CA410677579 biolink:is_sequence_variant_of HGNC:4440 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 06b7af92-3bcd-40fe-9cd9-a142186cca47 CLINVAR:246082 biolink:associated_with_increased_likelihood_of MONDO:0018947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e9d20366-2dde-49dc-942e-39577ca7ba3d CLINVAR:246082 biolink:is_sequence_variant_of HGNC:2974 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7c87daf6-82fc-42fa-9e79-9981eef9542b CLINVAR:158515 biolink:associated_with_increased_likelihood_of MONDO:0018947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ae0edfd7-f045-4823-b425-f26d78fc83b3 CLINVAR:158515 biolink:is_sequence_variant_of HGNC:2974 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7d3aabe8-def0-488f-b530-45a9841ba9a6 CLINVAR:158514 biolink:causes MONDO:0018947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen bcc0a372-eb3d-483b-abb1-600405b389cb CLINVAR:158514 biolink:is_sequence_variant_of HGNC:2974 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen da46486b-2b43-4045-a7cc-8d930fa704ac CLINVAR:92677 biolink:associated_with_increased_likelihood_of MONDO:0018947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 825f16c2-3359-486c-9f57-abd9592b51fd CLINVAR:92677 biolink:is_sequence_variant_of HGNC:7448 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 03f6f773-4b3c-4b45-a3e0-ff8661b16230 CLINVAR:451052 biolink:genetically_associated_with MONDO:0018958 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c663e014-4148-448d-bac5-f557944dedc0 CLINVAR:451052 biolink:is_sequence_variant_of HGNC:7720 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 51086439-8b0e-401e-83df-689705da771d CLINVAR:235402 biolink:causes MONDO:0018958 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4bd31c31-1b86-47e4-8759-32198265e699 CLINVAR:235402 biolink:is_sequence_variant_of HGNC:7720 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 31306e88-9083-463d-a549-defc5be09386 CLINVAR:642798 biolink:associated_with_increased_likelihood_of MONDO:0100084 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 13ab0a3c-1309-477c-8f97-9dac3ee2b917 CLINVAR:642798 biolink:is_sequence_variant_of HGNC:129 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eb1a1ce1-531a-4457-a001-a43010e6a906 CLINVAR:100279 biolink:genetically_associated_with MONDO:0013304 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2f409f95-d238-4778-b369-552b7d81b126 CLINVAR:100279 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 05cb9413-1a46-435e-bd82-75e44d38d596 CLINVAR:132994 biolink:causes MONDO:0100150 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2ad9f685-2cc2-4ac4-a26b-a641b6c3bdb3 CLINVAR:132994 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0b41c0ef-e814-4a40-8a5a-2602941b53cd CAID:CA2580612111 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen cacd3b1f-c126-43ae-a026-cfde3e449dab CAID:CA2580612111 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 10dc7e4c-6976-400d-a103-04ad5bf4b5bb CAID:CA386971688 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 48e43e3c-16d6-4b85-80cd-8fdb8a274d5b CAID:CA386971688 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 70b9216b-1632-48c4-864e-d4ba7bcfecfe CAID:CA386966053 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen bac3508e-acb2-494c-8124-421e63820566 CAID:CA386966053 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 775963a5-56a2-4290-b0f8-48854cdcb31a CLINVAR:585930 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 76687c77-195b-4f2e-9d53-95f5495ad9ae CLINVAR:585930 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2ade1748-b7f9-4a66-877f-c10ca6293200 CLINVAR:3029101 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8750eae4-8ac4-496c-94b2-e24a9dffa224 CLINVAR:3029101 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d3a40931-bbf1-41e9-afea-d7e242d691e8 CLINVAR:804851 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 85464c4d-cd5e-4c19-bf48-454b2adac6c7 CLINVAR:804851 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 453d527d-eb4e-4b92-822e-2cc011aa6aec CAID:CA2695203127 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e2431253-ea9f-40c3-b7ba-7e2742a5a48d CAID:CA2695203127 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1719b570-8091-4999-acf2-25144a57bcfd CAID:CA367401109 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 841bd44b-61f3-4e4b-97fd-f55b27ed705f CAID:CA367401109 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1dcd4e69-56b4-43e2-b5fb-fcb39941b347 CLINVAR:1803547 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a4764449-47a3-45d4-a8d8-dae627f00e37 CLINVAR:1803547 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a69d2383-58a9-43dd-99da-b8f791438769 CLINVAR:36258 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 088e0e71-089a-46a7-8630-c1efb0e8bbfb CLINVAR:36258 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ef0d81bf-9756-4729-90f8-5fb9c8b181d7 CLINVAR:161288 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3cdbd3ec-175f-484b-bbb5-d42377c0bde2 CLINVAR:161288 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b0985c3c-1bbd-4c42-b3a8-52d18f548c60 CLINVAR:252061 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen bc44d2c5-2884-40e4-91c0-f83431415695 CLINVAR:252061 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4158b189-da40-4dc7-97de-7deba3cb68e5 CLINVAR:440691 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 65a86fd3-91d6-46b6-a37d-e8831a4ecd44 CLINVAR:440691 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ee3884c1-3d80-41b1-b648-703afb4502e5 CLINVAR:630377 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5b538f6c-9322-44b4-bcb8-57c466d22d70 CLINVAR:630377 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5e10aa65-8a58-4ed9-85be-6ab68e81fd85 CLINVAR:252015 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 70828449-26ac-4e3a-bec2-3f393e5bae0d CLINVAR:252015 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8a835a13-9cbe-4df5-91a2-faa27dd65b7d CLINVAR:252172 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen be967295-7fb9-4f4d-abc5-c50123528d59 CLINVAR:252172 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1c8fcb31-8b76-41b1-9272-20c191827d6d CLINVAR:922061 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6320c346-7561-4d20-ae1e-85ff3992bcc5 CLINVAR:922061 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 97c698ef-4c5e-4ce7-94df-1c1549e1238c CLINVAR:406165 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b966f0dd-1022-4f46-a706-0c88cd3e9786 CLINVAR:406165 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3e0c2133-89b0-4476-bc3d-a4f320b0ff17 CLINVAR:237872 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b09e9dba-be61-436c-806c-fcbf06ff34c4 CLINVAR:237872 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1240dd9e-2935-4694-8782-d54465a48c25 CLINVAR:183085 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ba56bcc7-7591-4332-a170-4f7528957536 CLINVAR:183085 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3a731439-f708-49db-86de-88c49c2b2c9c CLINVAR:251857 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen bd2f77c2-c2a8-4c6a-a357-322e961977e3 CLINVAR:251857 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0c2f069e-c062-4826-9bdc-2a52122d5dfe CLINVAR:251858 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 65fbe1f0-4b90-4fb6-b0d3-ad1552ba17d4 CLINVAR:251858 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 467653ea-c18b-4c13-9f59-f677dbf6ca61 CLINVAR:251856 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen aa3e471a-11b2-4313-af3e-f979e978d280 CLINVAR:251856 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2575d8fa-d5bf-421e-aca1-df4cb55322b6 CLINVAR:430776 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f6a20eac-f86b-473a-9037-852afcc618c8 CLINVAR:430776 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5e6d461e-bb76-492e-af6c-e4d41a49a705 CLINVAR:251749 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 58ba8e37-ec9c-45b0-b754-47f76b7d44af CLINVAR:251749 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7dccdb7e-d42c-4da4-a38e-99d11fb9d132 CLINVAR:251748 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen dfe260f7-c056-4220-9e2c-b122187338bb CLINVAR:251748 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4e543871-53da-45b5-bbff-b80ec6ee9df7 CLINVAR:251750 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen febe0379-a00e-4a21-8318-ed0fc4a84d68 CLINVAR:251750 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 55050cd8-c006-4337-8894-1c222fd3a7c1 CLINVAR:3620741 biolink:associated_with_increased_likelihood_of MONDO:0011058 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a4d56416-9896-4119-a795-54fae1aa71ba CLINVAR:3620741 biolink:is_sequence_variant_of HGNC:2180 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8ec8f8d4-b5b4-433a-a5c1-a769336c11e8 CLINVAR:143791 biolink:genetically_associated_with MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4b8e0ce2-8153-4b62-b6cd-e4325f4e7253 CLINVAR:143791 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen abb94cc2-405d-42e0-bce8-4b21ea0593c8 CLINVAR:156592 biolink:causes MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f5326e42-ca58-405e-8d8d-cb470c76de3d CLINVAR:156592 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c0fecf86-9992-4a5d-a607-1ff943e765d8 CLINVAR:208653 biolink:genetically_associated_with MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ebbce9c1-2bb1-414c-830b-bc12b1e81d0a CLINVAR:208653 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 306b4a41-86ff-40bc-a79e-9200a18427dc CLINVAR:1648546 biolink:genetically_associated_with MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5f40ec57-54f0-42cd-9fbe-504584f0b3ce CLINVAR:1648546 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ac8ba0c2-d9b3-4a94-876f-cce2b370b198 CLINVAR:143796 biolink:causes MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e0e22e4b-44b1-413e-8326-3b9d72b1ce70 CLINVAR:143796 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5bdbdfb9-6aa8-46b6-9e90-9e8a45d62177 CLINVAR:143493 biolink:genetically_associated_with MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d58b0c55-8096-43dc-b233-86255449424a CLINVAR:143493 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 73236b9a-d427-4f98-ab06-8cabad82e13c CLINVAR:2492678 biolink:genetically_associated_with MONDO:0100040 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e75bf484-a55e-4497-8f37-cf78f07855d8 CLINVAR:2492678 biolink:is_sequence_variant_of HGNC:3811 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b4606eae-83f8-416e-9013-e0b195b2d122 CLINVAR:1144732 biolink:genetically_associated_with MONDO:0100040 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d5c681cd-ce97-458d-a57d-4de5cb822d3a CLINVAR:1144732 biolink:is_sequence_variant_of HGNC:3811 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7fe2882d-b44c-4733-b229-a0832c0e039f CLINVAR:1911932 biolink:genetically_associated_with MONDO:0100040 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ff376385-2d61-4ca7-8b20-92ce01aada62 CLINVAR:1911932 biolink:is_sequence_variant_of HGNC:3811 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a04022ae-3ab1-4b07-adaf-d35f3d64ed67 CLINVAR:212376 biolink:genetically_associated_with MONDO:0012589 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f410bf69-8003-46d1-8103-a36f2e82d854 CLINVAR:212376 biolink:is_sequence_variant_of HGNC:11634 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen efcee98d-eb84-4ffe-8b90-1ab6bb55e4ca CLINVAR:1164050 biolink:associated_with_increased_likelihood_of MONDO:0012589 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d0962a4e-747e-43bc-9037-7d7ae8a728b6 CLINVAR:1164050 biolink:is_sequence_variant_of HGNC:11634 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 53bd37d2-8b6c-4fef-abca-213b65c2c5c4 CLINVAR:973968 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1d415840-1019-42ed-9111-5e397c3aa01d CLINVAR:973968 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2cbdbbe1-d0bf-4aaa-8a61-c0f6459617c6 CLINVAR:98870 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9cf7060d-1624-4243-84c9-1f3934c37509 CLINVAR:98870 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 62a6d7e7-4d2a-491c-b95b-a56aee8dbadc CLINVAR:98840 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 763243f4-d7d2-4dcf-8555-fa2b84ddd1b1 CLINVAR:98840 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3a546715-bf74-435a-9193-7da82af95130 CLINVAR:973967 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1eaec410-3b84-4ac0-8fdb-92a831e96fad CLINVAR:973967 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4a47173c-dda5-45b9-8eec-8f96cd7d0b84 CLINVAR:973956 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 16a4540b-cbfd-4018-9805-182e18156527 CLINVAR:973956 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8a13eec8-1d5b-43bb-bd41-c88045d5ca5e CLINVAR:973965 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 412ab6fe-4a07-43af-b86c-7c7ba9cbecaa CLINVAR:973965 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ba997e5c-070d-43f6-bf24-271e30082a1c CLINVAR:973966 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 39ca992b-c605-4a47-a2e6-f20f465fec8c CLINVAR:973966 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen edc84045-ffe2-4e68-bf65-2ce8c040080d CLINVAR:98904 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4e21d9d6-d5b4-4466-8ca7-d1a53066d3f9 CLINVAR:98904 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f0f49b37-8bde-47b3-a4aa-c79631737ec3 CLINVAR:53031 biolink:genetically_associated_with MONDO:0100316 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3da2aa4f-4b3c-4ee5-81ae-15c25524eea3 CLINVAR:53031 biolink:is_sequence_variant_of HGNC:6294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f4f2820f-b411-4953-94cc-c25aeb784105 CLINVAR:3119 biolink:associated_with_increased_likelihood_of MONDO:0100316 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3701bc32-7437-4cf1-b91c-64d9618070b9 CLINVAR:3119 biolink:is_sequence_variant_of HGNC:6294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0e90a50f-7758-4700-ad6a-aba9afa5df3d CLINVAR:52955 biolink:associated_with_increased_likelihood_of MONDO:0100316 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 71ed6e16-5038-4bdb-a16d-84ac9b9d9e22 CLINVAR:52955 biolink:is_sequence_variant_of HGNC:6294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f9a0aee0-92e1-45d8-b8ca-7ee754cf0e59 CLINVAR:3114 biolink:genetically_associated_with MONDO:0100316 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3a5a02e0-4849-4362-bd8e-7adc9b6dfe8d CLINVAR:3114 biolink:is_sequence_variant_of HGNC:6294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 458e4bd3-6ecc-4393-a3f8-023659c79fbb CLINVAR:191476 biolink:genetically_associated_with MONDO:0100316 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8803a4ca-21da-4762-b9b0-74fde1cf5175 CLINVAR:191476 biolink:is_sequence_variant_of HGNC:6294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e95548e3-0b10-41c2-9b8f-4b2a172cdf45 CLINVAR:200877 biolink:genetically_associated_with MONDO:0100316 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 35fbcad9-38ae-499a-8432-7e53edafa5c9 CLINVAR:200877 biolink:is_sequence_variant_of HGNC:6294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a53b5f0d-2f0e-4fd3-a403-da26ad2202c1 CLINVAR:67059 biolink:genetically_associated_with MONDO:0100316 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 85ad6d91-7ce5-4891-84b4-f69ceef770d3 CLINVAR:67059 biolink:is_sequence_variant_of HGNC:6294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4f70e90b-9de0-47cd-80b6-82e908cf97d2 CLINVAR:3128 biolink:genetically_associated_with MONDO:0100316 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e7d8f541-3487-45d4-828f-0b8de0e40b98 CLINVAR:3128 biolink:is_sequence_variant_of HGNC:6294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 40389a38-0112-44e6-82e4-2dc075563be4 CLINVAR:53047 biolink:associated_with_increased_likelihood_of MONDO:0100316 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9a2415b9-f0d6-418e-ba3c-24516c451103 CLINVAR:53047 biolink:is_sequence_variant_of HGNC:6294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 52272d4a-d57d-458d-9e6d-6441fbc06d20 CLINVAR:67130 biolink:genetically_associated_with MONDO:0100316 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0e7321bb-f3e9-428d-94ba-c405cc274a6c CLINVAR:67130 biolink:is_sequence_variant_of HGNC:6294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 008dbc81-86fa-4557-a2ef-a6c8988240da CLINVAR:219923 biolink:genetically_associated_with MONDO:0100316 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1f5e0f34-83de-42c9-b4b7-61e5d783171f CLINVAR:219923 biolink:is_sequence_variant_of HGNC:6294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 92d0c3ec-2f89-4138-923c-c96e891f237c CLINVAR:3140 biolink:causes MONDO:0100316 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 94a61766-560e-49a6-bfc5-817182d82c91 CLINVAR:3140 biolink:is_sequence_variant_of HGNC:6294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6eef5c94-d468-4f3a-b80e-6f0f1e437862 CLINVAR:53034 biolink:genetically_associated_with MONDO:0100316 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0b249375-6ff5-4d81-bc37-e3aeeca9cd8f CLINVAR:53034 biolink:is_sequence_variant_of HGNC:6294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 88cb16da-d262-412f-8648-eb3f9dbfb2e0 CLINVAR:53118 biolink:genetically_associated_with MONDO:0100316 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f637daba-6453-430f-a33e-2611ad79cdd3 CLINVAR:53118 biolink:is_sequence_variant_of HGNC:6294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 24d9028d-de03-458d-8748-8fd6fc0c76be CLINVAR:53083 biolink:associated_with_increased_likelihood_of MONDO:0100316 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d650da3d-0381-4b9c-b66a-d534f1c9c99e CLINVAR:53083 biolink:is_sequence_variant_of HGNC:6294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bb8cda90-c2c8-4b72-b8b8-07918467d662 CLINVAR:2124553 biolink:genetically_associated_with MONDO:0100316 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ed4cc4c3-2df1-4c8a-8f5e-57f95ac428f8 CLINVAR:2124553 biolink:is_sequence_variant_of HGNC:6294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 20bd0b51-b5c3-4537-a531-d41992b52c5b CLINVAR:67027 biolink:genetically_associated_with MONDO:0100316 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2f3bf20b-b7cf-4703-b428-9b3a1cc09362 CLINVAR:67027 biolink:is_sequence_variant_of HGNC:6294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8db8653d-9065-4e69-be01-a8f4a51ecbf5 CLINVAR:871729 biolink:genetically_associated_with MONDO:0100316 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1ab90c55-67d6-41a5-bf16-ff3c20185eb7 CLINVAR:871729 biolink:is_sequence_variant_of HGNC:6294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 042e2e25-7d54-46d6-8689-18acf033c073 CLINVAR:1950175 biolink:genetically_associated_with MONDO:0100316 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 42986ef5-a758-488e-8b76-54a55111f250 CLINVAR:1950175 biolink:is_sequence_variant_of HGNC:6294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9bdb379e-b20b-46a1-a6b9-eb1a1dd3a0ce CLINVAR:3118 biolink:causes MONDO:0100316 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b557fc36-0f7e-4b38-b133-8a4c30db6a2d CLINVAR:3118 biolink:is_sequence_variant_of HGNC:6294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 64826d1e-c13f-4c77-8090-aba1bd208ee1 CLINVAR:3135 biolink:causes MONDO:0100316 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d5febde2-6d56-4e85-807a-6dce91fef251 CLINVAR:3135 biolink:is_sequence_variant_of HGNC:6294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 492627f1-6a60-47ca-b73a-3ad256ed2fda CLINVAR:200874 biolink:associated_with_increased_likelihood_of MONDO:0100316 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2c7cde5a-ae15-42ec-8174-9508738956fa CLINVAR:200874 biolink:is_sequence_variant_of HGNC:6294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6192dfd4-9f9a-4525-b067-67e6e4ec2809 CLINVAR:3131 biolink:associated_with_increased_likelihood_of MONDO:0100316 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen fad555b0-0c0a-4be1-8701-ca4012c45272 CLINVAR:3131 biolink:is_sequence_variant_of HGNC:6294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4b422245-1145-4996-8008-8d281aa64fef CLINVAR:2683630 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f55e29a4-a87f-4e57-bfc1-22703cc0c1ee CLINVAR:2683630 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f672fac2-99d1-4acf-8815-815300144158 CLINVAR:4026 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen db10cfd0-e4cd-486d-b238-b729ef832336 CLINVAR:4026 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ccb991fe-728a-4c26-b9e4-791f9a7ae272 CLINVAR:1322950 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 720979da-861d-4dbc-9745-66fc7fa35911 CLINVAR:1322950 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8e224e9d-61b4-4083-83fa-71663194a868 CLINVAR:1711447 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8b81e0cc-323e-4fc4-8e82-948e5771f03d CLINVAR:1711447 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8eacfd35-ed3f-42d4-9935-25850a82f58b CLINVAR:3769497 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a63d3114-5e91-4b21-9d00-fb905624396f CLINVAR:3769497 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 41d3808d-d8af-44ed-b4bc-bf2ffef62009 CLINVAR:3241650 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2855f2e1-0b36-4cbf-b88b-d422dc157243 CLINVAR:3241650 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 597e6045-22a4-4186-884f-5cd2803b719f CLINVAR:456406 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9524d47f-64c2-44b4-8087-c1264801b476 CLINVAR:456406 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 890915d7-6f94-469c-b554-ece343109444 CLINVAR:863657 biolink:causes MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e6c6bc93-0e6a-485d-83c0-6c2904e84ae9 CLINVAR:863657 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 66dcd824-6a0b-470b-9fff-d0f38a6a300d CLINVAR:690463 biolink:associated_with_increased_likelihood_of MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 985d5b44-7b03-44dc-a283-cc997685c991 CLINVAR:690463 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a653a25b-cb3b-4986-893e-b6e493af7a98 CLINVAR:1713278 biolink:associated_with_increased_likelihood_of MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e00a11f4-2efd-4717-b969-9307815a5bfb CLINVAR:1713278 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eac3b165-a9cb-4f65-bb5b-19fafe757ef6 CLINVAR:2765748 biolink:associated_with_increased_likelihood_of MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen eb60b456-7c1f-4b8c-8006-3a5a010a0e3b CLINVAR:2765748 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7f60e2cf-9b25-4a7e-a7d8-ef21e7a9bd32 CLINVAR:2020494 biolink:associated_with_increased_likelihood_of MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5e1a01cf-4bf5-4358-a10c-c9b9b659c83e CLINVAR:2020494 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 50cf1e47-ed67-40d8-b5bd-6477f6ad534a CLINVAR:265521 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d062d9b8-7797-4a38-a298-db0365db5bdc CLINVAR:265521 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e2bbfe2c-f8a7-4e34-b669-e7448176bd73 CLINVAR:217160 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen febddb67-0697-4fa9-93b2-59cc2dba0c18 CLINVAR:217160 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a86ecc13-1f60-42c9-82ee-126bdb7dc0cf CLINVAR:500678 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d88052c6-6f89-4e32-a45e-7e2f2ddd6602 CLINVAR:500678 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 87b36e23-6ef3-44f5-9e04-91dcf4349a89 CLINVAR:291078 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2f237ae9-0a4a-4c07-89fd-d37b3cb2c1d4 CLINVAR:291078 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9610c3b9-681d-47eb-9dd2-f442742a5d3d CAID:CA3055620674 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f2fd329d-0754-4816-a0bf-2c6f5e164170 CAID:CA3055620674 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3059622f-93a0-4b77-8258-f933d394f1ec CLINVAR:94358 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 12c15cb6-16f0-40a6-a721-ffd6d584d52b CLINVAR:94358 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f8bf02ec-2862-4080-a7a2-2e800f599e73 CLINVAR:94331 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4dec2bb7-fcf5-4354-a61f-a4eb46ce536a CLINVAR:94331 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8de9a5f4-d4bd-47a9-b98a-1b404401f55c CLINVAR:94366 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2f1f2c9d-24bf-4678-819e-313d4abb4cc4 CLINVAR:94366 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e5a34d0f-a46f-4910-89e3-2f94768dac8c CAID:CA347219920 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen eafb1fc8-addb-4815-872b-32f0181cbc8b CAID:CA347219920 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1cebf19f-c5a9-4e95-bb5c-ae54b584c375 CLINVAR:1300184 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6e5ce45a-f716-4714-9a6c-fb790ca96656 CLINVAR:1300184 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7c40ffda-ce15-4ede-9714-341ae5e2721d CLINVAR:288833 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ac5fc340-525f-4af5-b4b7-7d5d035cb10d CLINVAR:288833 biolink:is_sequence_variant_of HGNC:27337 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f165cedf-7fd1-4f69-8e00-cff73657806a CLINVAR:3776168 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen eeca1e1a-dad1-4aa5-be48-185c04ad7632 CLINVAR:3776168 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c957253b-e7b8-4297-8ded-3a38d8c194df CLINVAR:553852 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c03f2b24-7281-4e98-a208-87402db07aa7 CLINVAR:553852 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6a13b0eb-4186-460a-a253-f0463a12585a CLINVAR:984123 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4f69b0b3-b952-4d8c-9466-43836c55ada4 CLINVAR:984123 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9fa30a06-18fb-41ca-9849-2ca9556a7364 CLINVAR:498211 biolink:genetically_associated_with MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen aed3fdbd-ef48-4e9b-a48b-ca4cc94fd410 CLINVAR:498211 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8cce3509-5d18-4bb6-99e7-5327e17a92cd CLINVAR:496981 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5c99f17b-aa65-4b41-b317-a598e76a35e6 CLINVAR:496981 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 89b74d32-b9ea-4da2-8589-3e48627bea73 CLINVAR:285340 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 99564234-0899-4d6d-bb56-3d6c871cfb21 CLINVAR:285340 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5374f8c3-90d0-42fe-a7d8-d786568136be CLINVAR:9554 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 33a80d7d-f9ad-4a3f-a521-a98617a3ed21 CLINVAR:9554 biolink:is_sequence_variant_of HGNC:7501 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 13a3ce8c-3673-47d4-878f-40b21b444d76 CLINVAR:9607 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4f0bdd78-7952-4cd1-b87c-6bc608da39d2 CLINVAR:9607 biolink:is_sequence_variant_of HGNC:7488 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9429ad4c-909b-4ee9-b2e2-eb2129f56b78 CLINVAR:127403 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3a2861f1-377c-4efe-b787-3234e5529078 CLINVAR:127403 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 68f2cf44-461d-4f46-971d-aa6cd66595ff CLINVAR:524412 biolink:genetically_associated_with MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2940590d-8460-46da-86d8-2073d759fc73 CLINVAR:524412 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f8920f59-025f-47ba-b940-66434a3c576e CLINVAR:140897 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9007ad9c-4228-4928-9b2d-e8d0e62c320c CLINVAR:140897 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2f386052-3b86-4f9f-8a4e-06ee8ddf2cf0 CLINVAR:127340 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 43e7130a-bf5f-4676-a482-516273833a5d CLINVAR:127340 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 92b4fde9-5393-4dd1-98a2-2e9cf3eb11e1 CLINVAR:3022 biolink:associated_with_increased_likelihood_of MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2ac57739-ad63-4a43-b49d-c9ae36ac74eb CLINVAR:3022 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 33040954-0cb2-422e-87a7-5d20ff212c25 CLINVAR:481101 biolink:associated_with_increased_likelihood_of MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b7299042-a03e-40d2-8d70-924c28f609e2 CLINVAR:481101 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 31105451-727f-4905-9766-9cbff03e20f8 CAID:CA382516273 biolink:associated_with_increased_likelihood_of MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen aa82803c-f67f-438b-8189-495f569611f3 CAID:CA382516273 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ed575888-c683-4a5a-8c20-03e6bca77fdd CLINVAR:232110 biolink:associated_with_increased_likelihood_of MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 44fe5b5e-854e-4141-a2fb-0fe52266c4f5 CLINVAR:232110 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a8412fe5-4779-4af3-926d-661b44993ea8 CAID:CA2695215276 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 440eaa23-f065-41ac-ad7e-221a07fe399e CAID:CA2695215276 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 37369340-4ee9-459f-b2ab-bb7254a009f5 CLINVAR:141325 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 382d1f0d-29eb-4a20-994c-be80d7e0e002 CLINVAR:141325 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 73dc5957-95ec-4490-872c-ccf1cf483f59 CAID:CA382539488 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7c342904-1c17-4529-8108-bc4a7a754023 CAID:CA382539488 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cd064034-77c2-44ff-9c56-60a3021d7b78 CLINVAR:1023669 biolink:associated_with_increased_likelihood_of MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d9ef580c-c250-4576-990c-90164cd39706 CLINVAR:1023669 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 435226e7-4955-4758-841b-edd14eede3b1 CLINVAR:1018946 biolink:genetically_associated_with MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 253aa665-5a99-41bf-bfe4-9ac105ede840 CLINVAR:1018946 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4a689c79-785f-408e-8916-133d84b7ea48 CLINVAR:241562 biolink:causes MONDO:0700272 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen bb313dcf-710f-489b-957f-24fd399c611a CLINVAR:241562 biolink:is_sequence_variant_of HGNC:26144 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 356b0739-d8b4-4e99-a02b-45e0a9846ce7 CLINVAR:3791511 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8068fb38-0b2f-439e-a6de-42cc733b47ee CLINVAR:3791511 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 335d2889-7dda-400d-bbe4-974414875579 CLINVAR:3775902 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d18ef946-8bbd-4f83-aeda-24d7d4ff8d23 CLINVAR:3775902 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 20314e4d-02fe-4d12-8917-71a7b1db33ae CLINVAR:3791500 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 920a85b9-4368-46d7-b0ee-74d0a39e3aa4 CLINVAR:3791500 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0d26326e-63d4-4dec-8dc1-d8c2d41db6e2 CLINVAR:3791474 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ad847497-2e75-4a7f-9be6-847be3f348a4 CLINVAR:3791474 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 368b2acd-fac2-4fbb-81b8-c0239fb25d6a CLINVAR:3791460 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a4a84734-6ab3-4a1d-a64c-0d67aa005c76 CLINVAR:3791460 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 90777246-1aa1-4d4f-9125-fc14f455e8f4 CLINVAR:3791461 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c9371fd4-0a69-4d11-91fe-6a3cbc3b9bb8 CLINVAR:3791461 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ff512e43-2ac5-462d-8f38-347bb86fc07a CLINVAR:3791517 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8e7dfc4e-aefb-4259-9b2d-71d7712cf639 CLINVAR:3791517 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 14b78404-49c3-4ce2-bc8a-2aa6186917be CLINVAR:3791488 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b4001255-21c8-477b-ae6a-40a168f2faea CLINVAR:3791488 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5e96aaed-d95d-4043-a7b7-3a68735fd4c9 CLINVAR:3791480 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 42fc31f6-2ef2-4c8b-b57f-e2ae96468e7e CLINVAR:3791480 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 73672fd1-0d16-4e6d-8c23-e4dd79e0b186 CLINVAR:3791469 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4ecf5c97-d720-4d1c-9e5d-34dc4cce48ab CLINVAR:3791469 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c5345a2b-9edb-4443-8c07-1a70a1e42450 CLINVAR:3791478 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 23357de4-385d-41ed-aeca-ad6eee249449 CLINVAR:3791478 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1d2a3ca6-bcf2-4f2a-b956-b0401e3d76a3 CLINVAR:3791508 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 28c92837-9d5a-456c-908e-ded9df1b8fef CLINVAR:3791508 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7624b433-c490-44a6-9222-76dc9899c96f CLINVAR:3791502 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 59a13fb3-5f3b-4423-ad48-41441f51df0e CLINVAR:3791502 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 851899e1-a3d1-4b76-b0a0-b3cc273e6352 CLINVAR:3791498 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen dcd685f1-8985-4538-8517-2c1ca9ad1ed6 CLINVAR:3791498 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fe50ed50-7430-43c4-b290-9e998192e612 CLINVAR:3791485 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen eb3eb239-3012-45a3-9ec5-cde815ec44ee CLINVAR:3791485 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5a75fa4f-3c35-4d58-bca1-a97fda656c9f CLINVAR:3791465 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2f19e9ac-d31a-4649-8d47-a76f59d6c55b CLINVAR:3791465 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 751f0bb7-8a40-4a6f-a589-755dcbe2e00b CLINVAR:3791467 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fae82a8a-76a5-4d02-bbbc-e9ede1499613 CLINVAR:3791467 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 692f4df2-c8f6-4256-ad04-2a0dab00bb04 CLINVAR:3791515 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 875a29fb-be1e-48dc-9805-e81c7039f62e CLINVAR:3791515 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8598b61d-4848-494d-8df4-19334223eb66 CLINVAR:3791479 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6e2c892c-5be9-4db4-a673-c13be3543ae3 CLINVAR:3791479 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 786110d6-f08a-4eed-947e-a273d06f9551 CLINVAR:3791466 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3ba2c4ae-1332-43c4-9cfd-9ff3cea415f0 CLINVAR:3791466 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 948f489e-01a2-4de9-a2b0-41ad30759805 CLINVAR:3791504 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 49f89057-e17a-4d82-b401-4b320f8c1308 CLINVAR:3791504 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ada76980-e7b8-476e-a5dc-679224fbc574 CLINVAR:3791507 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d55d56c2-02f2-4439-b377-e9a4cd491ae2 CLINVAR:3791507 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c99cd4bf-a75c-4f25-9849-464661c610ca CLINVAR:3791492 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 14e53471-7d3d-4d06-8f30-3f5f0ab0dcd0 CLINVAR:3791492 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e1670aec-738b-43f8-95b6-5d4cf6a08090 CLINVAR:3791468 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 13efd4ec-6c09-4896-9442-8bbf97185ca5 CLINVAR:3791468 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 63306d97-70e9-4140-8aaa-04be807da056 CLINVAR:3791493 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f5719ec2-15ce-42e6-ab74-569e05f1717a CLINVAR:3791493 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8c527858-b27f-477b-84f3-37179fe884ee CLINVAR:3791487 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f446bd4d-0a01-4456-9648-f9986203dc45 CLINVAR:3791487 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 61201708-8d74-4edc-9bc3-07a123d0bd2e CLINVAR:3791505 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9a3848a5-4fda-4a75-be56-95c80be94783 CLINVAR:3791505 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f0fd9215-2583-4757-9077-acf24eb9dade CLINVAR:3791491 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9f45f9ef-a2ed-4801-9e2b-5297e1dda3d4 CLINVAR:3791491 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9ccb7908-2bc5-4c7b-92fe-4fd04b7276d2 CLINVAR:3791512 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 361411ae-b6d5-4c54-a338-5c59d8590261 CLINVAR:3791512 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 833b7445-6c4e-4c94-8813-248dbe640868 CLINVAR:3791506 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a57b6729-273f-4076-a0b6-781f6039787a CLINVAR:3791506 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bee6a684-fd20-4fc5-bd3c-e7f3d9442aa0 CLINVAR:3791490 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen bdab607f-d888-49ef-97d2-8e123a3f22ae CLINVAR:3791490 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f08d3dab-a5d6-406b-b4ff-da6edf39fadc CLINVAR:3791471 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a78dd234-ed7c-44a5-bffb-a29e6b2697b7 CLINVAR:3791471 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f1e87de6-02c1-477d-886e-5dba0fdca880 CLINVAR:3791497 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen caf90a4d-acb8-4a25-b980-292050514005 CLINVAR:3791497 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c1689177-6373-4ff5-bf33-575c6b325330 CLINVAR:3791495 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d90749f0-00ce-4e76-b996-fc3f1bca941d CLINVAR:3791495 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2a49feb9-c97e-444d-bce7-c2cb97678247 CLINVAR:3791475 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 532541b3-7867-491a-bef2-7a9c630f60d6 CLINVAR:3791475 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 76de43d2-2ef1-4f29-a556-ddd18550d191 CLINVAR:1070970 biolink:causes MONDO:0011132 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen dd1c0e1c-5bdd-46b0-b593-09c384013ff5 CLINVAR:1070970 biolink:is_sequence_variant_of HGNC:12765 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9fd7bccf-bc11-4d5b-a79a-4ee5ebfe1f34 CLINVAR:837219 biolink:causes MONDO:0011132 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c993654d-d6bf-4fb2-8f94-4f95e7b83d74 CLINVAR:837219 biolink:is_sequence_variant_of HGNC:12765 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 562ee433-09b6-4593-8f47-7f69d77a6df6 CLINVAR:30007 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a96eaee0-9452-4f5b-9172-1351369b8f04 CLINVAR:30007 biolink:is_sequence_variant_of HGNC:7501 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a8e7ef08-cf40-4f49-a669-9c894fd6c8ea CLINVAR:1177637 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f4735632-91d7-41c3-be84-8177f2a04754 CLINVAR:1177637 biolink:is_sequence_variant_of HGNC:7481 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 703e1331-63aa-4ace-8884-13144d40ad46 CLINVAR:4056142 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4a424837-a037-437e-b2b9-1cc28fd3f7e2 CLINVAR:4056142 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen baed9e26-be96-4b88-a571-a80248767f0f CLINVAR:1323100 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6bbdb14c-577a-4231-9e82-0d6febc01288 CLINVAR:1323100 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3fca020b-57b1-40ce-bf6a-9db216753d4d CLINVAR:550421 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4a0ef110-1865-4e3e-b697-d57a17c127d0 CLINVAR:550421 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 02dbe1f0-d5fd-4598-806c-de24cb83e162 CAID:CA16020727 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 090cdf3a-6a8b-4986-b311-62f0af00d6e7 CAID:CA16020727 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bb79bda1-ce03-4d96-99f2-433c0da7cdf5 CLINVAR:102617 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f004ae18-d395-47fc-b9c2-151e9435791a CLINVAR:102617 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 91b07f23-3359-4d86-9ff2-be577dd64873 CLINVAR:1514901 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7c5aa309-540a-4b6d-b9d9-f29385a4e46a CLINVAR:1514901 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0ecc46d8-7adb-4a8c-8d01-04e205814855 CLINVAR:971992 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a1966c3a-3a53-4f7e-968f-0e187e723765 CLINVAR:971992 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f130b5c0-d1bf-487c-be4e-f03017d885cf CLINVAR:663720 biolink:associated_with_increased_likelihood_of MONDO:0011132 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3b4e56f7-baf1-445e-846f-8875358aaa4a CLINVAR:663720 biolink:is_sequence_variant_of HGNC:12765 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bb647f69-d6f9-462b-973d-81a32a5e03ad CLINVAR:929238 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 16bb2c58-29f7-4cc4-bce4-9b59a76cc550 CLINVAR:929238 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3ee2f084-0c76-44eb-9f1f-d83cbd7c8eae CLINVAR:1053808 biolink:genetically_associated_with MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 72185ba8-e3ae-43ae-84e6-56b788957f0c CLINVAR:1053808 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f655fdff-219c-451f-9187-8e2ce49234ed CAID:CA645372298 biolink:associated_with_increased_likelihood_of MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 468731a1-72a9-4cc8-854a-2bbab0313206 CAID:CA645372298 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen da8ddefe-8515-4578-9c8b-28a1ee111a53 CLINVAR:376616 biolink:associated_with_increased_likelihood_of MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9bc1a3ba-766d-40bb-8a4d-fcf3981962b7 CLINVAR:376616 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2209ee0f-9bf5-4c96-a5f5-87707bf7baca CLINVAR:1408583 biolink:associated_with_increased_likelihood_of MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ce3f30fb-e831-4450-92f3-3622fa7ea8ad CLINVAR:1408583 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0168da7f-2395-4083-b701-89d7fd5f896b CLINVAR:177879 biolink:associated_with_increased_likelihood_of MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c89fe491-ede6-4924-ac56-3033fdb6835a CLINVAR:177879 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b2b8286d-753e-44ce-a618-7c50a05e502a CLINVAR:987878 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ca46c571-fc55-4a5a-8298-fc0c76745883 CLINVAR:987878 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9a25f354-70a3-428e-9e5c-b0808e75a396 CLINVAR:142828 biolink:associated_with_increased_likelihood_of MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d5aee879-c34e-4d9d-9201-8847de34cc02 CLINVAR:142828 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0686eb12-c1a7-443f-9e0c-b63a01510654 CLINVAR:237938 biolink:associated_with_increased_likelihood_of MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d6f9e9bd-3683-438d-8bfa-cb936b574513 CLINVAR:237938 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0e4f99cc-c517-46be-8451-57e3a602c5ec CLINVAR:142536 biolink:causes MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4d0b8886-59ef-462c-87d5-152bccf0a0bf CLINVAR:142536 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c9d7ca7f-d728-403c-9dcd-d0bec40543de CLINVAR:655054 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 807698aa-b67e-47c9-aa3d-3dc1b029fb0a CLINVAR:655054 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b5abd032-d101-4813-ae39-674871b212b9 CLINVAR:662690 biolink:genetically_associated_with MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2252001e-0481-46eb-bf2a-0c33f2eeebf6 CLINVAR:662690 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2fcb66a9-3a2e-4234-a763-a1be916717ad CLINVAR:142206 biolink:genetically_associated_with MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 630142bb-3b4b-4eac-bd58-50e4343d94bd CLINVAR:142206 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6a80fc99-882b-471f-af9b-466e9f33115e CLINVAR:406597 biolink:causes MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d89ee1bc-c13b-49b9-ac84-3a5613fa1093 CLINVAR:406597 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen baf11a87-f2e0-47bf-973c-a477ee481651 CLINVAR:233627 biolink:causes MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f925eb23-39c9-487b-9784-5b71bd28e033 CLINVAR:233627 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eb9fd44b-052b-4c0b-93dc-ec22b20fad07 CLINVAR:246416 biolink:causes MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2a564d99-9a4d-4595-a622-6876a31336c2 CLINVAR:246416 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d8449630-b7c3-44e4-ba6e-bbede0524a57 CLINVAR:823452 biolink:associated_with_increased_likelihood_of MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1db78576-b7c4-490e-b09f-8c3e9c9ae784 CLINVAR:823452 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 80832f7e-d0e4-44f8-a3af-868d41e92eff CLINVAR:376632 biolink:causes MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6b44a9cd-593e-4f94-9339-f06a25f98555 CLINVAR:376632 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 65d51f18-d269-4319-bf9a-278018355a88 CLINVAR:528270 biolink:genetically_associated_with MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 26c59348-eccf-4b1c-88f5-aa8a3cd8f250 CLINVAR:528270 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 11eda630-80b7-41ff-ad2c-c3ae0952f74e CLINVAR:12376 biolink:associated_with_increased_likelihood_of MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9305cdd3-1d71-4470-8bcb-cdc69a363133 CLINVAR:12376 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bfe5fef5-e941-4419-9cc4-b6cef8da5b8b CLINVAR:184863 biolink:associated_with_increased_likelihood_of MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3ff73f96-1521-468d-84e8-7bd6d64bc0d1 CLINVAR:184863 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 44a47dda-d0d7-49f5-8e76-940d936d6470 CLINVAR:1053218 biolink:genetically_associated_with MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9c171185-eeae-4488-a67c-bf4d09cffa16 CLINVAR:1053218 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 823d79bf-a5c3-417a-ae74-822883888803 CLINVAR:855487 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d654fa66-0646-4e54-8b6f-749103a55f77 CLINVAR:855487 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3dcab1fd-4297-454d-a671-f1225c1d286a CLINVAR:482229 biolink:genetically_associated_with MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2b9dd72c-e9a2-4d4e-b990-ee95340e9249 CLINVAR:482229 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 982d9dbb-7def-42c1-87af-87457d8e6dc5 CAID:CA9870021 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 19b5e497-37c4-4567-9679-a5a092968def CAID:CA9870021 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aae39a8b-49c1-4e7d-a65b-af8c57d08393 CLINVAR:803609 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7d71f987-ea78-4667-a5c0-1849280dcb81 CLINVAR:803609 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 28f6f891-7a76-4c83-b89f-7b4735d09610 CAID:CA409107643 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 21e8e557-4c1c-4e45-b545-2bbe6e584cc2 CAID:CA409107643 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4cd410fb-9622-4eb8-a8c8-e7e7a713e781 CAID:CA367358007 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 408f66fc-f7a7-4a70-a759-c324e1c03c17 CAID:CA367358007 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 23381bc6-7f33-4297-a9cf-85083af95579 CLINVAR:3893306 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1194c31e-c32c-4bc5-b99f-eb85f30691a9 CLINVAR:3893306 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 18994ef2-eacb-479a-b599-2d18443ada35 CAID:CA367399229 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 60078168-4fc7-4737-94b1-d52741418b4c CAID:CA367399229 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8e0bf631-e560-4b83-9365-fd08b767e3d8 CLINVAR:235097 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5e9daff5-1d6c-4b43-9ac7-cd336394d677 CLINVAR:235097 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4aa361e3-27da-4474-a1aa-688f47740eb9 CLINVAR:573130 biolink:associated_with_increased_likelihood_of MONDO:0011132 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 355cb465-29ed-43b4-bb8c-761878cc1424 CLINVAR:573130 biolink:is_sequence_variant_of HGNC:12765 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 94c82eac-1772-4056-a1ff-7138bc972305 CLINVAR:1343440 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 52eee75e-8caf-4fac-8e6d-aefa182fe6a8 CLINVAR:1343440 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 09327ae6-467c-4310-a126-e90a66a7c7c9 CLINVAR:2138538 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen caf33d5b-6332-4427-accc-83af2d70aa4a CLINVAR:2138538 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4b421269-440f-4a28-a7b4-511b56f9a961 CLINVAR:2430153 biolink:genetically_associated_with MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9a9534b1-d4ed-4bc8-80fa-d45fda492dbc CLINVAR:2430153 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 73ae2f83-d0a4-4ec4-8637-4b7b8d730058 CLINVAR:1802337 biolink:genetically_associated_with MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ffd06447-d13d-4940-acef-ae3071260b2e CLINVAR:1802337 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 37353705-b6bd-4243-b14e-d6f645eda905 CLINVAR:866825 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0fa51e17-033d-4cd0-bb06-10f300d4ef8f CLINVAR:866825 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 82718d8d-4e97-49ff-aadc-37cf0c160d4c CLINVAR:143743 biolink:causes MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1b88cff6-2789-4d2e-a59e-c16d7852fae8 CLINVAR:143743 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9d1c695e-91df-4e82-83a4-9103dbcc79e4 CAID:CA2695195451 biolink:genetically_associated_with MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 95f22f56-f1ea-4801-8543-4a13566822e2 CAID:CA2695195451 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 813cc758-3343-4fa5-a669-2d6e35fcfadd CLINVAR:3028600 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7a157a0b-4e01-434f-a909-a85212e70a6f CLINVAR:3028600 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bc2f396f-dc70-4c15-8fa3-1fca1c44f074 CLINVAR:98727 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5c9f523a-eb98-4871-9b5f-46cdcacc5c46 CLINVAR:98727 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e8c2f3b5-c60d-4181-b7fb-1c0d57b5a873 CLINVAR:98728 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 36a26b6b-9782-45a2-9cf7-138bf77667f2 CLINVAR:98728 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ef53b5c3-e926-4ddf-999e-2167a30c5a74 CLINVAR:98729 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e4c99915-b2ed-4fd6-8cc1-a0878d375ef9 CLINVAR:98729 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 04f89dba-2d7d-4b8a-859a-2ebef20c4c14 CAID:CA412739890 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 76e294a5-49ea-46bf-8033-cfedbb5e5735 CAID:CA412739890 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 77b962e0-1027-494c-a14a-28228f2bd225 CAID:CA412745793 biolink:associated_with_increased_likelihood_of MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 06ea8fde-4536-4122-9a86-3678481e2371 CAID:CA412745793 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7d50ac82-1140-4da6-bfcc-8cc42a32be07 CLINVAR:812418 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 06765e16-ae55-4557-914c-caaf2fdc64ad CLINVAR:812418 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ec07b42e-8f82-4cd6-9fd0-c07e4882c2b5 CAID:CA2573131851 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e4654777-a905-4d53-bf8b-0f7e33008fb2 CAID:CA2573131851 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c2705d87-338d-4f3d-b0e0-c5f7ce3c45b2 CLINVAR:1707409 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen da7ca922-9f66-4083-b2ac-134b3e680658 CLINVAR:1707409 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8ef9d0ee-d81c-4caa-af70-aabe04538e8a CLINVAR:975133 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d705e07f-bfc3-40a5-b262-b127d697b1b9 CLINVAR:975133 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 117fcadf-b745-4840-aa34-de90ec5225e3 CLINVAR:98742 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7260adf8-795c-4e2b-96ac-7dc595401502 CLINVAR:98742 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c4a1e91b-682c-4dd3-afde-9867eb5a045a CLINVAR:98746 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a45a1789-5111-4b62-ad3a-2edccd975774 CLINVAR:98746 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d0599327-b0f5-4ad8-95e2-70c9d9a985ca CLINVAR:1213922 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen cc949bc8-c1c3-41dc-97cb-96992a517c5d CLINVAR:1213922 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen edb63461-a986-4959-a92b-e1e12c6c1c81 CAID:CA16020883 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c8b517c2-fec6-45d1-808d-6644e1c13d0b CAID:CA16020883 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ab07f947-e3be-44b5-a9fb-2b79d2bac5da CLINVAR:2417518 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 62df727f-5f64-443f-a69c-fa0915deca13 CLINVAR:2417518 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ca03e402-744b-40a6-bb03-78781254558f CLINVAR:1297114 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7047808d-75fb-4539-88ec-7adb3594c2b8 CLINVAR:1297114 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 537063fc-ca3a-44ef-9595-cd6ac8cb6fe0 CLINVAR:866755 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e7b68db0-c4dd-4bfc-9d5d-27eaf2607a0a CLINVAR:866755 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bde992ef-7c8f-469e-892c-d6c7ecc44206 CLINVAR:1065689 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 59ec2d08-0ef1-4745-be68-fc80bf84f29e CLINVAR:1065689 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 07f8fd5f-0b21-4cea-9af7-fc860c11db99 CLINVAR:1676154 biolink:associated_with_increased_likelihood_of MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b15cecaf-483b-4c9a-b7fb-85094c891f6e CLINVAR:1676154 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 64920a6a-d559-4c75-892d-8ad21bc601a3 CAID:CA412745623 biolink:associated_with_increased_likelihood_of MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0c60b40c-7cf8-472e-9727-908f68beff3a CAID:CA412745623 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cee5673a-13be-4c23-9402-9919ccb15b58 CLINVAR:1275779 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4b654a18-9c9f-497c-9ccc-405d0c0e85fd CLINVAR:1275779 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1fbd040c-47d1-451f-960b-32ed77ae8af4 CAID:CA412731265 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c876e763-0ee7-4f63-ae38-ef52c06d6002 CAID:CA412731265 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 885715bc-5622-4378-bfe2-0bdb2069ef1a CLINVAR:2099208 biolink:associated_with_increased_likelihood_of MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen cd6f7a17-ccb7-42a8-b556-f8cc71c57dd1 CLINVAR:2099208 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 19a2a17a-617a-40a5-b9f6-34775fdf42e4 CLINVAR:975136 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 27e9d2d9-38e2-4952-850f-560d3f474577 CLINVAR:975136 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fc045c97-92a9-43ad-91c2-10d6e0a7a3a9 CAID:CA2588340080 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5ffb4553-dd4c-4c7b-b21a-a105e0e804eb CAID:CA2588340080 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f6b41868-cac3-485d-88ef-71e7706b22e4 CLINVAR:30006 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 10407aea-8080-4fc3-bf97-2ddc933bbdff CLINVAR:30006 biolink:is_sequence_variant_of HGNC:7481 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c812bf4b-3b18-4208-9c5e-f2cf7a4b9b3a CLINVAR:690063 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f4044bc9-308c-4e0d-bb1f-cfd50f80749f CLINVAR:690063 biolink:is_sequence_variant_of HGNC:7489 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a2042b33-c57e-4440-8816-727aa263ef03 CLINVAR:9619 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 446c923e-ce6b-42d8-8172-54b7fc480e19 CLINVAR:9619 biolink:is_sequence_variant_of HGNC:7478 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5d85d80c-1b10-45e5-ae5a-46e92adebf37 CLINVAR:692374 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen fea3a4c6-f5b3-447b-b52e-697f1374173a CLINVAR:692374 biolink:is_sequence_variant_of HGNC:7455 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 80b22f22-9b9f-4a36-8d13-e68733c80c96 CLINVAR:155893 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8529eddd-f5d3-490e-8229-e6b11ad185bd CLINVAR:155893 biolink:is_sequence_variant_of HGNC:7414 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c3500888-dae7-4260-a617-b514358fb9e9 CLINVAR:155892 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f1383691-a76d-400c-9a2d-82c5d1d5a9a0 CLINVAR:155892 biolink:is_sequence_variant_of HGNC:7414 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 72e1897d-5a6d-4140-831f-6d72f6f840f0 CLINVAR:1328561 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 504fc2b2-5120-44d2-952a-56625010bc40 CLINVAR:1328561 biolink:is_sequence_variant_of HGNC:7455 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f27a4796-3b51-4226-83cc-14a7f82acacf CLINVAR:9589 biolink:causes MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9e293cc3-12ec-4e30-ac1b-1d031a32a2d6 CLINVAR:9589 biolink:is_sequence_variant_of HGNC:7490 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 351f1b93-727b-4cb7-92e0-1be681944133 CAID:CA415077248 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d99bac8e-20ec-42ec-bf8d-957ad250b6c0 CAID:CA415077248 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 356ec7e5-21d9-4c22-bffd-52c6644ff884 CLINVAR:11701 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d4db2372-cc21-4fe0-b347-f96441986089 CLINVAR:11701 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4a96aa18-e5a9-4fa8-a282-ba7806ca84c2 CLINVAR:2504565 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 27b014b0-c56a-498e-81b8-61a51df48582 CLINVAR:2504565 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 12ef9a06-53b4-490d-8a40-b66a59edee83 CAID:CA415080308 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3f1764ff-e037-41ca-a859-d2d7a0c97d5c CAID:CA415080308 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen abc95b14-f04c-4b5f-838c-b5513b7e862a CAID:CA415086207 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen bad1f74d-9f92-4aec-9e3f-5caf1f70efe1 CAID:CA415086207 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 16ce3a9f-c9e8-4593-a341-94baf68ca048 CAID:CA645530575 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3d9eabde-ecbd-41e0-83b0-f86525bfc320 CAID:CA645530575 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d7861e71-1053-4908-b31b-1a4fd92ca8bb CLINVAR:284800 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen af25bed8-b4a9-4670-8bdd-909da5b993a7 CLINVAR:284800 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 04c6127c-86f7-4625-bdfd-7dd56d7bd881 CLINVAR:94352 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 38e70caa-4f29-4027-bcf1-4254e92d6ca1 CLINVAR:94352 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ba5daf8b-79bd-44fe-8aef-ddf4fa3ef8b3 CLINVAR:6679 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 76eb7957-e866-4d7b-843e-d7fac6c0ef8b CLINVAR:6679 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7e42f0a2-c167-41bd-8a4b-8da67923eb7f CAID:CA2586969497 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 45682e3f-8616-4e9e-b883-b5f88ed39f7f CAID:CA2586969497 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ec4e38c3-8e5a-49f3-be6e-e1264ec6e392 CLINVAR:217227 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4e6de939-9d14-4c05-a700-84cd4ac0d072 CLINVAR:217227 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5a49e689-9522-4152-b79c-0686507eba07 CLINVAR:1433815 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 04190caa-aa23-4c2b-ae90-3292e1fa664e CLINVAR:1433815 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7fb51045-7706-4308-837d-59bcd7b4525c CLINVAR:194805 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b456d69a-921f-459a-86f2-ae45678ba085 CLINVAR:194805 biolink:is_sequence_variant_of HGNC:27337 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8add48b4-77a1-463b-991a-da0cdfd02c22 CLINVAR:284469 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen cd9b0c98-16c6-4705-a7b6-bcb4fa9def34 CLINVAR:284469 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d67c68a1-d33a-4c83-adfb-8dc6db75593d CLINVAR:984127 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b1530976-356e-4b4d-b4bf-b699ebc01442 CLINVAR:984127 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 31f11db5-41bc-497c-b7b8-0c645031aa4e CLINVAR:94263 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 49255d45-6d3b-46a9-bfab-c0f21b31f51f CLINVAR:94263 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f088f2fe-780d-409b-92a9-b5319472edae CLINVAR:550946 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a5cbf838-5f10-462b-a568-3ea96ce8f3e4 CLINVAR:550946 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 79f96f02-dad7-407a-a812-7d1d3a8d7311 CLINVAR:374503 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e934eaa5-157f-40d1-a55b-7dffd789cd1e CLINVAR:374503 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 575e09af-d936-42e4-b9cf-7b8774e244cc CLINVAR:496872 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b89fc71e-3af4-48ac-ac38-68b37b2ce8fd CLINVAR:496872 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ea112602-5b0f-4256-ad99-f3daf790993d CLINVAR:94271 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 02b8ecba-a5b3-43e6-bb2d-594b9b7ac52b CLINVAR:94271 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ac529d99-2705-4641-964a-f64d75f41b23 CLINVAR:2674961 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0301ce5d-8695-404e-986a-bb4ec8575ced CLINVAR:2674961 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1743e3e8-5214-4a3f-8f92-f4e1f4376089 CAID:CA347220794 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 02a02f25-d70a-49d9-9204-b6d34a01de11 CAID:CA347220794 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3ad39285-e6fc-4a53-91eb-0a2060c35337 CLINVAR:429885 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 57f30370-5cf4-4d44-8e88-aa4e9574e800 CLINVAR:429885 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4098ce52-bb30-4f2d-b967-919ca6653985 CLINVAR:217225 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 63942136-c434-40e9-9a52-6a1eaa17b051 CLINVAR:217225 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 99035be0-c812-4354-a1e3-a57942ad7a5a CLINVAR:265108 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a126eb26-59d5-4fab-b84a-1088a899f8ba CLINVAR:265108 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f8eaaa9f-bef3-4f3c-ab8c-8ae6a4f5654e CLINVAR:498353 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e2752b7c-4020-40b4-b16f-397798610429 CLINVAR:498353 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7f69a628-a957-40dd-9d92-19b008fdfe1e CLINVAR:94337 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2198bacb-fd9e-42b0-85dc-cbec91d9da64 CLINVAR:94337 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e30830a1-25a5-42a9-962e-6e708d7629b4 CLINVAR:284804 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5bb66139-41f8-4e25-a339-7064728d7944 CLINVAR:284804 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 75e07bd3-f93b-4f19-9730-cf60cbf2a8ba CLINVAR:94274 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 05729655-b04e-487b-952b-03b3e11ca00e CLINVAR:94274 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 50f60a43-8a42-42bd-990b-b17f6fcea78e CLINVAR:6682 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ed76fc3b-9813-4985-bda0-94b282693aed CLINVAR:6682 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 29b4c489-580c-4246-830a-7070535b93d0 CLINVAR:6681 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 28658449-b05e-43a0-b063-76ed0a76c411 CLINVAR:6681 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9206156f-42c9-4a8d-9b8d-5738731cf3ab CLINVAR:837557 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3c13e4d6-eb6d-4307-89f0-a6e5e411e726 CLINVAR:837557 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1d1df579-4bad-4fff-a678-6a007984a4aa CLINVAR:6675 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen fc907abb-b0cc-44b1-af16-12745ed4846d CLINVAR:6675 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9c789a08-e4e1-403a-8545-eff463721528 CLINVAR:18443 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f306d1d3-3f19-4c01-aa50-98eda84f646f CLINVAR:18443 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cb48b1c1-076d-4773-9f58-a2b71e601511 CLINVAR:94340 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1167fa30-54a2-4a82-a530-575f4f126cea CLINVAR:94340 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7302fcc2-0832-4161-9af5-d4a4a01dff56 CLINVAR:6668 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0da652f5-e3be-4585-930b-875b92ed29f5 CLINVAR:6668 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a58725a4-2044-409a-850b-8664f8c7f7f8 CLINVAR:286151 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 84de4267-ef89-4067-879b-8a941f04842c CLINVAR:286151 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a5bba1db-84a6-428e-a80c-d6b61650b9ea CLINVAR:502095 biolink:genetically_associated_with MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3ffc668f-4dc9-4c15-a43c-5abe973c5e87 CLINVAR:502095 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 044cb2be-29c1-4432-94f7-7dc9c4d85059 CLINVAR:2018639 biolink:genetically_associated_with MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7fe660e5-84e6-4c78-b866-f9158b6f4f73 CLINVAR:2018639 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eb381ebe-661c-4509-a07b-85867c73b31f CLINVAR:283474 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b4a9ef54-5aa9-4e3f-a476-f0645fc1af9d CLINVAR:283474 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 08bf7889-616e-41ce-b217-3723c91db2e4 CLINVAR:203587 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6ea54f9a-0abe-4ffe-93c1-517cd0f1252f CLINVAR:203587 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 84fb9d95-5622-4f6a-a9af-cec2334200b2 CLINVAR:429246 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5662fb09-40ec-4ccc-8b90-9f0c17b4e631 CLINVAR:429246 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9a8fc413-1c7a-4ff1-8ec0-4e2871bbb762 CLINVAR:102571 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 959aae5a-5114-4644-9076-6d1f8e8a47f4 CLINVAR:102571 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7ee43f54-a92d-4137-a1fa-396040274f37 CLINVAR:102798 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3c4a8777-3237-4ec2-94af-ebaa00797741 CLINVAR:102798 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e7d42790-3948-40f0-8b69-3d50aa08bdde CLINVAR:102547 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 53599d54-401b-48ec-8fba-b3bc1b80ffdf CLINVAR:102547 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d50dc98b-46f8-4c4f-9e8f-4b4a44ddd752 CLINVAR:462651 biolink:genetically_associated_with MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 353ae929-cc31-4856-8eee-b7b6ed8e9ded CLINVAR:462651 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7b7b3abe-42b3-412d-a5ed-a743442bdaa4 CLINVAR:52411 biolink:associated_with_increased_likelihood_of MONDO:0700269 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6e0e181a-06c3-4e9a-9431-1c960e25f231 CLINVAR:52411 biolink:is_sequence_variant_of HGNC:1101 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 505c8401-a402-4182-bf8a-c0c8fbdb7826 CLINVAR:52563 biolink:associated_with_increased_likelihood_of MONDO:0700269 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 45e6eb7a-5b3d-4ce6-9cec-2098e7037a49 CLINVAR:52563 biolink:is_sequence_variant_of HGNC:1101 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0646eb99-13e2-4b13-987d-95e2a2eb7188 CLINVAR:373826 biolink:associated_with_increased_likelihood_of MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4c5d14bd-a3a8-4f22-b16b-cb9d1b9039de CLINVAR:373826 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0e630aa5-b6b3-4768-bb50-5e1e2b4fde35 CLINVAR:232047 biolink:associated_with_increased_likelihood_of MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 60b12b06-2f99-452d-8d7f-c9425c9ac564 CLINVAR:232047 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 303233e5-41dc-481e-8884-97cabe36bc94 CLINVAR:96949 biolink:associated_with_increased_likelihood_of MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3ed5a1b6-df83-4bc4-a5ce-bb9d5cb1b7ba CLINVAR:96949 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 72726d01-b4c0-4ecf-9bb5-a589fe706918 CLINVAR:52491 biolink:genetically_associated_with MONDO:0700269 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6b693cff-93f8-47f0-83bd-b96945a5d0e7 CLINVAR:52491 biolink:is_sequence_variant_of HGNC:1101 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 85224157-b69a-4f28-8a93-5da0209e6c11 CLINVAR:479367 biolink:associated_with_increased_likelihood_of MONDO:0700269 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4b01f604-889d-4592-b031-7ba7c856c46f CLINVAR:479367 biolink:is_sequence_variant_of HGNC:1101 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b154aba0-d14a-4a4e-8e11-d6f4646df1d2 CLINVAR:216263 biolink:associated_with_increased_likelihood_of MONDO:0700269 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f594f965-c776-47ec-80d0-a7663c7d1301 CLINVAR:216263 biolink:is_sequence_variant_of HGNC:1101 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c0125152-8dfe-4dde-9c30-1c969f305b2f CLINVAR:55482 biolink:associated_with_increased_likelihood_of MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4936e933-42be-4a7e-b327-b063a6eacdb5 CLINVAR:55482 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 148c412f-864c-4cbb-934b-b669403861af CLINVAR:55631 biolink:associated_with_increased_likelihood_of MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3aec7b76-3650-4ae7-826f-10630969302b CLINVAR:55631 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 700e121f-c024-4077-94e4-448d846e711b CLINVAR:421439 biolink:associated_with_increased_likelihood_of MONDO:0700269 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 82ec2a80-e37c-47e7-ac43-25ec7b937798 CLINVAR:421439 biolink:is_sequence_variant_of HGNC:1101 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d34ef50c-75dd-4bc0-9c5a-8666d8e7bb09 CLINVAR:55399 biolink:associated_with_increased_likelihood_of MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 95c1307e-9b74-4a23-91c0-914809772a57 CLINVAR:55399 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ae9b943e-dfd4-4c03-9ea5-f8a9b973c180 CLINVAR:531399 biolink:associated_with_increased_likelihood_of MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6f324ff1-3ddb-4a7e-9c81-e26ec4afe339 CLINVAR:531399 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2c3a4b53-5e75-4227-a2b0-9f770d7a783f CLINVAR:37650 biolink:associated_with_increased_likelihood_of MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 558bf902-1229-4a9b-b21c-97fc08837a2e CLINVAR:37650 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 54601a43-f80d-49c7-8f75-d2b41ae23060 CLINVAR:55530 biolink:causes MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 71332407-2b8e-4e7f-8d9d-9829227a6724 CLINVAR:55530 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 83f44116-bdd3-4493-97a5-87f1a3144d66 CLINVAR:440481 biolink:associated_with_increased_likelihood_of MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen fb68156e-0597-4b6b-87d0-8e3e9a3d6fde CLINVAR:440481 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9e8a2408-d01a-4018-9a44-9f4e3542aced CLINVAR:868490 biolink:associated_with_increased_likelihood_of MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 986443f9-9d59-4752-b7b8-fb2774d99d0e CLINVAR:868490 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 45eeaaf1-b804-4b2a-b1e6-8449cf3b5fca CLINVAR:629251 biolink:genetically_associated_with MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f46be30d-7a90-48a1-98aa-aca456f15a2d CLINVAR:629251 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e563bf44-e074-4173-a93e-77af1c8d787c CLINVAR:531444 biolink:associated_with_increased_likelihood_of MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5e984134-f3a3-410f-a88f-cfd919501b48 CLINVAR:531444 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2282b333-cb82-4cbe-80fe-685ee385efd7 CLINVAR:52056 biolink:associated_with_increased_likelihood_of MONDO:0700269 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6cf84235-b8d5-4f73-a764-4891f38aa4bf CLINVAR:52056 biolink:is_sequence_variant_of HGNC:1101 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f1071311-4c2f-4168-8c17-54f39599669e CLINVAR:252889 biolink:genetically_associated_with MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7479c4a7-3a15-47e7-904e-361cf5f02bb4 CLINVAR:252889 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bae54406-7c84-4e5d-bdeb-223a38851a28 CLINVAR:368117 biolink:associated_with_increased_likelihood_of MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 13b797ea-1080-499a-b4b2-b9ad2184f7de CLINVAR:368117 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f31be206-573f-4e5c-bf7d-57470df15d02 CLINVAR:1029498 biolink:causes MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 93dc336a-0db2-4abf-81a6-acaafcbe587e CLINVAR:1029498 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7989b21c-dea8-4b79-9e07-5dd8ff44b374 CLINVAR:811219 biolink:causes MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen beebcd85-4399-4831-b8a9-37bfde727ca0 CLINVAR:811219 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 77afc251-f8bf-4e3b-9a32-01dfeeb6f095 CLINVAR:1512896 biolink:genetically_associated_with MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 69bb7c73-256a-4451-89c1-83d535d468ac CLINVAR:1512896 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0f7e7cda-79ed-4795-a3b6-f82fee5a797e CLINVAR:626973 biolink:associated_with_increased_likelihood_of MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5c187239-8add-4929-9a26-51e244bc6051 CLINVAR:626973 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 974730e9-9dcc-4331-b972-f619ce924c77 CAID:CA414914381 biolink:genetically_associated_with MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a83c38ec-a92b-43db-b5c9-d7e8d46096cf CAID:CA414914381 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7dc3209e-1c88-44e2-b89a-10ee1840775c CAID:CA414435714 biolink:associated_with_increased_likelihood_of MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e61a2b3f-320f-41be-b831-99b5f9f49398 CAID:CA414435714 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4a83b0d6-645b-48f4-9a18-64d2efe66374 CLINVAR:55397 biolink:genetically_associated_with MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a2a96209-242c-47e5-a878-f4641a942f86 CLINVAR:55397 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7d1556a2-1f30-412c-9a24-2d485c675694 CLINVAR:940200 biolink:associated_with_increased_likelihood_of MONDO:0700269 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c503bea7-1e74-43a8-aa39-108f8b027bb6 CLINVAR:940200 biolink:is_sequence_variant_of HGNC:1101 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2a726799-a7bf-48f1-af1a-443cfa1cfb57 CLINVAR:251515 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen dcf6d912-506a-4574-9486-a764dfc0afc6 CLINVAR:251515 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 733779cb-7f82-465f-8824-29f3db7e6ccb CLINVAR:226380 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2b269d85-6377-409a-8d30-df99b25c7424 CLINVAR:226380 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3d7207fc-6561-48fe-b63b-f547e2192c19 CLINVAR:226379 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f55f8cc7-9455-42f1-b815-ad9d9e47a241 CLINVAR:226379 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c031339a-8bbe-45a8-a20e-72a01d8c7713 CLINVAR:252107 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ecc5881b-99b5-4696-a12f-4f5aa4b79400 CLINVAR:252107 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7fa1f7eb-e7af-48fc-beaa-013caa81a899 CLINVAR:14209 biolink:causes MONDO:0009595 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 880dac8a-f618-4ba8-86ba-109e5d6b06f4 CLINVAR:14209 biolink:is_sequence_variant_of HGNC:10031 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0a316647-3fee-4135-8204-55a6eceab4da CLINVAR:926510 biolink:genetically_associated_with MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8a1f2f03-a425-488e-acc9-010f4ad06512 CLINVAR:926510 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4d2da5ca-ee85-4fb3-b3fe-51298fe08d47 CLINVAR:975142 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5b3e6f57-081f-482f-a76d-e1607a1dd537 CLINVAR:975142 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9592d045-a1f0-4d05-8c4a-21803cd1561d CLINVAR:865892 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ca64e13d-9b12-4865-aad7-5453cb475e7a CLINVAR:865892 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e98d508f-97ea-40e3-9bbe-13be73887991 CLINVAR:866844 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d984e5da-3139-4d15-9263-d7e74583fe91 CLINVAR:866844 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c194c9be-d10a-4049-9f94-ac5b96981c04 CLINVAR:1802355 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 65cb14f3-f6cd-4867-8c78-eb20262e53df CLINVAR:1802355 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 77f4247f-e65e-47a5-a027-f53e7b0f36e6 CAID:CA2677125568 biolink:associated_with_increased_likelihood_of MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 582392a8-de89-4da6-97f6-5d95542c7e24 CAID:CA2677125568 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e88e2a95-c9c6-4610-9746-81a161dca4e0 CLINVAR:251112 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e4bfdc30-e827-4e86-8317-16a55e2a7e2b CLINVAR:251112 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1fff1a20-3031-4334-b2e9-ca8646fc5250 CLINVAR:251113 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b615f61e-6c99-41d7-96fb-c5793aba2224 CLINVAR:251113 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3a44a0f7-647c-4b20-88f8-9d7523b8d763 CLINVAR:250958 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 496e3852-6cbd-4453-96e8-370d52987a78 CLINVAR:250958 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 454d7091-68fd-453d-8ad0-ef3c31e8265d CLINVAR:3351476 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9290e24a-6b98-47f9-9787-a1d102300fc3 CLINVAR:3351476 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c90aac09-c376-4d72-8377-380ef5e4cff9 CLINVAR:2574633 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 77676a25-a9eb-4f6c-9573-98de156dda85 CLINVAR:2574633 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 95ec49d0-f1c3-479b-9173-360d788da17b CLINVAR:1350522 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen cdef569e-8bd7-4305-99f3-7d3f57c82304 CLINVAR:1350522 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 423dc923-e192-4a4f-bc62-e086cf63b4dd CLINVAR:447426 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 17bfc9a4-478d-4b16-a88b-5230528592b3 CLINVAR:447426 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a0633168-e0d7-43bf-b0c8-df97587b5977 CLINVAR:2582713 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5b2b4a62-0010-4553-9bee-b727dd3e5508 CLINVAR:2582713 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cd0483a4-23c1-4006-8632-415c2823800c CLINVAR:4077388 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 57ed63b9-33a8-405d-a9af-463fe2809e1b CLINVAR:4077388 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e5af433d-9bc2-4442-8385-87aef502fdb0 CLINVAR:4077385 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7cb4a2c8-c42e-496f-bf68-de76b919a2aa CLINVAR:4077385 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5a733468-09c9-452c-a1a7-0edf7f980486 CLINVAR:4077384 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b2a1b45f-f54d-479c-acee-6aca354dc822 CLINVAR:4077384 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3471c505-6186-49ba-b629-e1849dcedfa1 CLINVAR:4077386 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 03b9f45c-8c67-4dff-abbd-750f41c729a9 CLINVAR:4077386 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0ce8bef2-ff1d-45e0-bd22-632ae2193676 CLINVAR:4077387 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f1e34f77-be06-4240-9309-bb264ca75b83 CLINVAR:4077387 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6ff42ade-6c99-4925-bb96-3cf310ec3b8f CLINVAR:4077381 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6f1d150d-a06e-452f-b61e-6ca4adde5057 CLINVAR:4077381 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6430cd87-e6f5-41d7-bc1b-a29e90439bc5 CLINVAR:4077382 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 55bc47c8-50b1-4169-aa97-f5a9ef313758 CLINVAR:4077382 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9bd30680-00f7-4dbd-a158-741877d11bc6 CLINVAR:4077383 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 51bddadc-b0fe-4424-8531-12e9bcbdea78 CLINVAR:4077383 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 84cd7184-8f24-4775-97f7-3f10f0c1b25a CLINVAR:4157 biolink:causes MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen eae2bb57-e053-401b-bef4-866d9bf60488 CLINVAR:4157 biolink:is_sequence_variant_of HGNC:4439 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 06118ea9-fc2a-4197-9d68-59b69028dbb6 CLINVAR:1677212 biolink:causes MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3648b7aa-a689-4dd0-add5-206fdf452ba7 CLINVAR:1677212 biolink:is_sequence_variant_of HGNC:4439 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f2330434-02e6-4ffc-9b1b-1c08334b4f65 CAID:CA2695202181 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1e764bc4-4523-4c82-933f-6431bf1c0e88 CAID:CA2695202181 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 754cc68e-e2f4-47a0-89c0-eebd2762e6aa CAID:CA2695232668 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8ce65f2f-cd85-41ce-96a5-d9cf585925d0 CAID:CA2695232668 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9c40cc4c-707c-4b4a-a59d-209d20faaf50 CLINVAR:867143 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 81098ea2-adbe-4207-933e-4ccc281fecc1 CLINVAR:867143 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bf1f679f-2a1b-4b80-98f9-5b6efec189fa CLINVAR:1297120 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 298182fb-9d02-4f75-b1c4-ebf3813a576c CLINVAR:1297120 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 56c2fb9e-4b75-454e-8e5f-f7e2a7815ec6 CLINVAR:183262 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c3b162b6-6c90-48b7-8ac1-0383081835bb CLINVAR:183262 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 877a3801-d377-490e-bd50-69993264b692 CLINVAR:865888 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d5f3b0e8-7693-4716-b632-fe7581ddc4ed CLINVAR:865888 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 00b6bebe-6876-4acd-9a21-edba6d8b94e3 CLINVAR:620583 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 179db4a0-3778-4d82-81a6-38827e8ef92c CLINVAR:620583 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b32f259a-0d70-41eb-a4b9-ffc6670e7e3b CLINVAR:1802335 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 854cf05e-dfa0-4221-bf9b-b5c2322f8ca0 CLINVAR:1802335 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b5032c79-5b38-450c-97df-34cbdad98a89 CAID:CA412730484 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen bceecd77-59ce-497b-ab2b-9b0f299e5c37 CAID:CA412730484 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c2d83d34-005e-4875-820f-148f39d3ffff CLINVAR:865886 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 82fb4ad2-93be-4ef5-90da-2b7928f9e13e CLINVAR:865886 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen acc5e153-5ce4-4b7f-a47d-6969f5d9e20d CLINVAR:867074 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 41780282-4f6e-41b4-af17-396b8f749347 CLINVAR:867074 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 950420f6-43f9-4c79-be0a-b5037b8241fc CLINVAR:866274 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6ad72822-65ba-4f5d-a021-c369b23af6e6 CLINVAR:866274 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6e55c173-778a-48a8-90f4-007cb2f8f2b9 CLINVAR:555213 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2cd4e6ab-8f75-4939-be44-6edcd5932fa3 CLINVAR:555213 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2e3aab07-ba71-476a-a51a-74685fce04cb CLINVAR:1300185 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen de28ea09-762f-4a94-bde0-4a7a90408448 CLINVAR:1300185 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bc47e263-0079-4132-90da-ac8b32c4c8dc CLINVAR:217157 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a67e6849-0e0e-470c-9a9e-e10c9e7ee620 CLINVAR:217157 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 17ed2071-b8a0-401f-bfbe-75b1e26fa797 CLINVAR:194354 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e8806e8f-eda0-4e55-bee3-43c373a3cf69 CLINVAR:194354 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a94d532c-1c56-469a-a623-27739a542c91 CLINVAR:813970 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b0bacfef-ab93-4ea4-8680-84f6bcede308 CLINVAR:813970 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c358a33a-33ef-4f40-aa20-e8fa6198f2c8 CLINVAR:935255 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e9436912-3d73-44d2-9663-590be4866289 CLINVAR:935255 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e54e6dfe-65f4-4d89-8db4-68a23ec2a371 CAID:CA2573052014 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0e18f31b-bd57-45aa-a920-2ccb9fd87a38 CAID:CA2573052014 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7cbc393a-7904-40e1-816a-ef6555d791a2 CLINVAR:289245 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 833e3b8b-812a-4116-a366-30ee4d2894d1 CLINVAR:289245 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4925fb32-7d28-4302-8355-81f139762d38 CLINVAR:288116 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7327ac96-7766-4ea7-a3a3-118695f5d659 CLINVAR:288116 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1830d05c-477f-4d7f-ace6-0ab1993dea1a CLINVAR:858180 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 88708602-df81-4bad-949c-da420401316f CLINVAR:858180 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f6181621-c7be-455e-a5b2-3d9fa77624a0 CLINVAR:281012 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e4d3b11a-cc0d-4d43-a352-0b62149b5dca CLINVAR:281012 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4dbb3bc6-7c00-4387-843d-0546b9f1309d CAID:CA347216867 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 62b7e687-25bb-4abe-9ffe-faf3e0389144 CAID:CA347216867 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4ca4e49d-4066-4b4a-a383-7c17346c075f CLINVAR:1802365 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a387e8a9-b938-47b5-b03e-6370c13c6aa5 CLINVAR:1802365 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0a3426af-452f-409b-beb1-80287f2c5666 CLINVAR:9908 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4b225210-d337-48cc-af75-898efd21332b CLINVAR:9908 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dda51e92-925b-4b95-b87f-263d4686a159 CLINVAR:866097 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0b495eca-de99-49f8-ae9b-198c92b53f80 CLINVAR:866097 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fd1f6458-9f34-4830-85f7-4cad1a7733f6 CLINVAR:1455429 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b2068d2b-b603-47d1-a837-bef5b90f1b96 CLINVAR:1455429 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b1a4425c-9358-4666-a4d4-934d182f1550 CLINVAR:866316 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ffbb5eaf-98fa-4c6b-acf4-3a08d463cae4 CLINVAR:866316 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1f528f88-b0c6-4a36-93fe-7a5e5615db75 CAID:CA2588340081 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 61bb45ff-5b4b-4e02-b8d0-e359c9e185af CAID:CA2588340081 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 50c3cd29-6cb3-44b7-b6eb-3dd9cd93a90c CLINVAR:865798 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 74603b41-ba6d-4fa3-94f8-a19c7756ce1b CLINVAR:865798 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 12698a82-6071-4fef-baed-dcd39ac4030c CLINVAR:1802328 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 52a5d251-6686-4a8f-a719-88df60ef1337 CLINVAR:1802328 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c50edb40-49d0-4462-a147-db6f09586a59 CLINVAR:1802369 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b05f0f1e-2ed7-46f3-ab2f-5853c990150b CLINVAR:1802369 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 80c87bcb-638f-4453-a2c6-713ce22c8d28 CAID:CA2581463496 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b56be783-81b1-4198-b154-a933a8a19049 CAID:CA2581463496 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bd5833a3-0cac-4df8-9089-960518ca8b9d CLINVAR:2138533 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b728d6bf-f3f8-4e6a-a213-31fb70ee65f0 CLINVAR:2138533 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dce5170a-6c97-49a4-8969-86eb35d6d215 CLINVAR:812411 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 34c6a5bd-9230-4a44-8eb9-652a07a19ddf CLINVAR:812411 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d0107277-2855-4d8f-af27-fd3bdb9e0ff1 CAID:CA2695202259 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 723612c9-6cc7-4b0a-bc62-688d058c4576 CAID:CA2695202259 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a0c1303c-edcc-415c-9d82-15a1857170f3 CLINVAR:98771 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3b9ebbcf-5e5b-433f-ae48-98658c01090a CLINVAR:98771 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d74e24a9-1970-456d-b278-78ee3b3e7b8d CLINVAR:636110 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2db33faf-da72-4aba-b910-0ffe2c8bf802 CLINVAR:636110 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1d9372b1-f389-4393-841f-ffef5d337f0c CAID:CA412729749 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2446162d-c108-408f-be64-40fc007c0417 CAID:CA412729749 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 05aced3c-d473-4e68-8e7c-5be8381006df CLINVAR:2430223 biolink:genetically_associated_with MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 57bd6418-153f-4d62-b864-e93a9f5da81b CLINVAR:2430223 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 50887e74-7056-47bc-bb5d-1f9b8ff745f3 CLINVAR:2430151 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5496eff1-9900-4f05-a063-693e6c83f3b6 CLINVAR:2430151 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 64f8dd1c-a48f-4bfd-8966-41a89ee3bdb9 CLINVAR:9917 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 21269b89-67f6-404d-b390-231054d736ad CLINVAR:9917 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 43a20ecc-b714-451d-91df-d86303aad437 CAID:CA2588340082 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0792adf1-5d5c-4a04-9787-e3370853a2c3 CAID:CA2588340082 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen deb19a5c-825f-4700-8c7e-d9de0664c2dc CLINVAR:624397 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 643f0fe0-1ab6-4fae-94c1-65ae9483fb85 CLINVAR:624397 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8361e3be-99b8-45ef-8c1f-e8feb73470fa CLINVAR:3249360 biolink:associated_with_increased_likelihood_of MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ec4c2169-8d42-4a83-ade3-01847a01ab0a CLINVAR:3249360 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2d142b2b-5c85-4366-8783-7e8e08264447 CLINVAR:9912 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2dbb667d-d674-4722-99d0-3c552dfa070a CLINVAR:9912 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2ba347ac-68fa-4549-90c1-76dd30e039ce CLINVAR:811889 biolink:genetically_associated_with MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c7e90cde-b124-4901-8795-60e8973539f1 CLINVAR:811889 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5305955b-67b9-4b7c-9e08-1b75147fc0f9 CAID:CA412745199 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 347b5ad3-c6fa-484d-805b-b868388431ca CAID:CA412745199 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c1c6ac77-1777-4b3b-b342-f4f7828c0a29 CLINVAR:98782 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen da71a51f-3d00-4005-89a2-c58af0e3376f CLINVAR:98782 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4f3329ad-f18b-4f73-9d2e-7cbb2c1b5ccb CAID:CA2695232559 biolink:associated_with_increased_likelihood_of MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen aea570cf-38f4-41ec-a37d-f774d02b813b CAID:CA2695232559 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f87f8144-582c-4bfe-8220-f2c2327072ff CAID:CA2695202180 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 65ee240c-a397-4408-9d6c-c9aa1c6885b4 CAID:CA2695202180 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 885c7f00-3f15-4756-9bac-e969f4622c2a CLINVAR:1685804 biolink:genetically_associated_with MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fcc34396-e398-4635-b2c1-94b009e7b531 CLINVAR:1685804 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 602f301d-49a6-4dd4-b055-f77a85a5b278 CLINVAR:812409 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 56eafa03-cb00-49be-af6a-d7e12ab38fb3 CLINVAR:812409 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 63d66dc4-67d2-453d-abf0-51c4fc2605cf CLINVAR:1802373 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 00e3531d-de3e-4b7a-8402-4b9f6175363e CLINVAR:1802373 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c8257c72-608f-4742-8356-749f847d7df1 CAID:CA412729246 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b28784dd-f42a-44d2-b167-3219b16f0d0f CAID:CA412729246 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a5b1a6f6-db4a-4d93-9576-3e592fbaa261 CLINVAR:1012646 biolink:associated_with_increased_likelihood_of MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 287bc611-e200-4f7e-934d-94e8bce8795b CLINVAR:1012646 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3f846c30-8b05-4fc3-b0c2-3d96888519c6 CLINVAR:9911 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f8dce952-85fc-464e-9d00-6c614588bcd7 CLINVAR:9911 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 355c32f6-3c6e-42b6-adff-2c78bfa89965 CLINVAR:866381 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ae39c271-a736-481c-bb61-6b5654a45120 CLINVAR:866381 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d58f1900-aa93-42c4-b2ad-27609cebe626 CAID:CA412745347 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1a9dfca4-bc6a-486b-9397-bdaf02bc6c2e CAID:CA412745347 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ba4b7989-33e5-4736-a37f-6afa8f834e6c CLINVAR:98779 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 007346ed-2f19-409d-aec6-f94bb55507ca CLINVAR:98779 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8421a241-90ac-400b-99e0-dd86e67a976a CLINVAR:98780 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3c62bc59-a508-40b2-80ab-0a0d3d17dd59 CLINVAR:98780 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c15dc6ca-bd0f-4a44-b1c7-7f079173e983 CLINVAR:803964 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ac8512b8-d0e9-4654-b6f2-e1a87ab2b99b CLINVAR:803964 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e70acbe3-5b6f-4d50-8c78-c5c8a22b1e8d CLINVAR:1284488 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6b44694f-a560-4fef-8400-503b49a42d47 CLINVAR:1284488 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6e1cb745-a1ec-4b6b-9ad3-375da86a0e20 CLINVAR:1802283 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen fc114965-0cfa-4175-95be-6f46fd83dcb1 CLINVAR:1802283 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f0f5c018-7b26-432e-a269-4b118d9480b3 CLINVAR:2138526 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 14fc14d9-2b5b-4d27-ae40-ee972a35dcd7 CLINVAR:2138526 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 353583d5-5bc8-479f-b8cb-0b860abb6b87 CLINVAR:2099207 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 54622c4b-a4db-44eb-81a9-766ff3a5493e CLINVAR:2099207 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 99913b86-ca6a-42e2-9a23-4726d911a0d8 CAID:CA2588340092 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 408701ec-e12a-4783-a697-3a8f8e771033 CAID:CA2588340092 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c5cd5190-269d-43fa-ba20-0ee6fbf57485 CLINVAR:2787059 biolink:genetically_associated_with MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5fc76c3c-4133-4ba5-9251-aed97ea883f3 CLINVAR:2787059 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dc63133f-7af5-41f2-81db-8b8ce1f9e063 CLINVAR:98787 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b672e105-687b-409f-a4d6-04595160d91d CLINVAR:98787 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 828d9b87-9ccf-4930-9a53-5e1d20dfb2eb CLINVAR:975129 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 58a82f32-078e-4633-8dda-ce71f0799bb9 CLINVAR:975129 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ea468905-07d0-4719-a903-7d6a5b5d24f6 CLINVAR:866642 biolink:associated_with_increased_likelihood_of MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 14972501-5674-4ea0-bf88-f45110d274e8 CLINVAR:866642 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b2c44384-1b4c-4cf6-8810-6063a59ad92b CAID:CA2695233285 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen fd33b346-c534-42e5-aeab-8aae7f4585a1 CAID:CA2695233285 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ccb5a45d-9a01-4e77-9045-a20c53e97144 CLINVAR:98795 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8ddae9c7-58ad-4606-b83f-1504c0486d56 CLINVAR:98795 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3a5e5ef6-8141-4fc7-b85c-3a5bb64888ac CLINVAR:236482 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c0a61ffc-ca3f-4c47-8d76-5e03ba6a7353 CLINVAR:236482 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ab792bca-2ef9-4de3-8e47-0e2347da0a47 CLINVAR:987407 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen df8347b8-64f0-4cc4-9255-c5316e58b34c CLINVAR:987407 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cbb8c8a6-4b1c-4945-bad3-a3345d528a84 CAID:CA412742555 biolink:genetically_associated_with MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen facf2260-259a-4991-8d49-3830b7caeaf7 CAID:CA412742555 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1d896981-1bc2-44e4-a53c-94fe07b2cf94 CLINVAR:2138542 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 576e6012-35a3-4fbb-8162-80ae332d95d1 CLINVAR:2138542 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c335e5da-6bfe-4a5d-ab52-eeebe904d013 CAID:CA412741475 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen fd7399ec-e1f6-4cec-8f6f-ff02b81f7b71 CAID:CA412741475 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 96d1a12c-8e3c-48be-9226-fed8698ed65e CLINVAR:98812 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen fddce595-d6ac-4c8c-a0da-a1ca472bcf2f CLINVAR:98812 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9abe2261-fcf4-4dfc-b5fe-f07b3b17a0b8 CLINVAR:98816 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3276e200-2b43-4bd5-bf98-17e03fb194c2 CLINVAR:98816 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5c56e8ec-04c0-4c60-8850-8935bdba1e58 CLINVAR:1297121 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 97e8cb30-7578-47a6-b1e9-24e559bab74a CLINVAR:1297121 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a21c45c6-2a3e-422e-8a9f-0a356ad8bcf1 CAID:CA412743099 biolink:associated_with_increased_likelihood_of MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 45ecbe22-bc8b-43ef-8f01-e214e88247b6 CAID:CA412743099 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 01db4f61-7626-4e7d-8885-10c677006523 CAID:CA412737308 biolink:associated_with_increased_likelihood_of MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ac180b2c-7a81-46e2-937d-0a5c1c52f334 CAID:CA412737308 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 10e52e1d-e464-492c-8c8b-bd6579f5bced CLINVAR:98753 biolink:associated_with_increased_likelihood_of MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7b6519c2-1621-4fb8-901a-0883dd3a59ea CLINVAR:98753 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dcc0ac25-6aed-48cc-b3c3-fb626cca9aa3 CAID:CA412731500 biolink:associated_with_increased_likelihood_of MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3ce45bc3-a5be-41a5-a2b3-6c0e68a1c114 CAID:CA412731500 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4ccef4f6-484e-46ee-b925-a4fd420b2c0d CAID:CA412731451 biolink:associated_with_increased_likelihood_of MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 890b2daa-45ff-40da-8f3e-ec03a25786c2 CAID:CA412731451 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e4fd9066-cd59-45ff-a7e9-696b8b8eb670 CAID:CA412731233 biolink:associated_with_increased_likelihood_of MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen cdfaf637-e512-47b3-892a-731c40a0170a CAID:CA412731233 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7d9a4970-8b72-4b95-8e03-6048ca7f7593 CLINVAR:866408 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen bd91ddc8-15d8-44b8-828d-e75f7a688b7c CLINVAR:866408 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1cc52dcd-5420-48ab-9a54-9ca2a52997b2 CAID:CA2695202182 biolink:associated_with_increased_likelihood_of MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 598e053b-9aab-438b-bb29-43f843fcf342 CAID:CA2695202182 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0329b5df-768a-4fc3-b19c-7494d3b8ac47 CAID:CA2695202183 biolink:associated_with_increased_likelihood_of MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 20ed9391-33a9-489e-8032-c30530efd5cb CAID:CA2695202183 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d52396d6-3c77-4fdc-84c7-723115762f11 CLINVAR:989392 biolink:associated_with_increased_likelihood_of MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ee8812cc-808a-49c0-a1f7-51c5a94d68f1 CLINVAR:989392 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4d50e499-0297-4462-9770-b2a9b58090d4 CLINVAR:866191 biolink:associated_with_increased_likelihood_of MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1e5d5fbe-ffb6-4a76-8abd-5396ba918181 CLINVAR:866191 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cd1da953-4e24-43a9-9c95-fb9aff662297 CLINVAR:865990 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 43d2d364-12c3-4f70-ba33-222b55fba1e9 CLINVAR:865990 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f57d4e76-8ea6-43f6-8c1e-b496b45fcbf8 CLINVAR:2737195 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 96e3f03c-d63b-4890-898a-d7462f258d0e CLINVAR:2737195 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1acbfb90-0cce-48e4-b1ed-6f8b2d3848cc CAID:CA2695232631 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 08a6d797-8805-4556-aad5-15d60f4e6775 CAID:CA2695232631 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6d75558b-3f2a-421f-8701-1e72dd5d02ac CLINVAR:3598278 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen af063f93-6d39-44bf-9143-f2e45a7a9684 CLINVAR:3598278 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9b0b8d0c-e42a-4797-8cc0-6fffaa013ab3 CLINVAR:593841 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 621f987b-eb3c-4089-b1f4-9009aa07ea20 CLINVAR:593841 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9c9dc0c6-3aff-4c4c-a1ab-ce4e3edd6c19 CLINVAR:812420 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 452ff72a-2e34-4eae-a319-e9e15c4f6553 CLINVAR:812420 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 21475225-388c-4857-a1e4-f30eb7e59fe9 CLINVAR:9916 biolink:associated_with_increased_likelihood_of MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 112909ab-c42c-476c-adb3-c415e3f5cdf5 CLINVAR:9916 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0b10caef-f28a-412d-9473-ef924cb73cbd CLINVAR:3249728 biolink:associated_with_increased_likelihood_of MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0c6f28af-87e7-4c05-9df9-aeadd27d8863 CLINVAR:3249728 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 476ac315-d6a3-4c29-bbfb-a1f27ee97c70 CLINVAR:1802334 biolink:associated_with_increased_likelihood_of MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen cd160881-5f2f-45e9-9014-7fae5c7402dd CLINVAR:1802334 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 38ef905b-408c-4881-92ea-0f5f65894cdd CLINVAR:866638 biolink:associated_with_increased_likelihood_of MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 81e7855d-b4d5-4267-a91f-35ecc2fc3bc3 CLINVAR:866638 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 68140ba1-3b09-4c53-b39e-08f8f9ad3d2b CLINVAR:2118600 biolink:associated_with_increased_likelihood_of MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4ceeab22-90a1-4427-b540-7136adb657a5 CLINVAR:2118600 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7a9fad79-f043-430f-815b-08588bc54999 CAID:CA412741589 biolink:associated_with_increased_likelihood_of MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3858ae0d-f76e-4684-b666-b2072a9d1e4b CAID:CA412741589 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e0d58aba-4790-4a24-9e43-ea63cd2b39f7 CLINVAR:252130 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f61ef0d6-0814-4a27-a1c9-b573aa90b1fa CLINVAR:252130 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 84b66f52-0950-49d6-b72b-fc75aef3e954 CLINVAR:252129 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 75a03213-178d-4e99-8969-a05c26a65b7e CLINVAR:252129 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cdee2906-6874-4014-ac31-509b4d3434f1 CLINVAR:628891 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6afb690d-be05-4673-a585-bfdfacdd44a6 CLINVAR:628891 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b24b0a9b-971e-4c31-8089-6a6e57421465 CLINVAR:1008168 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c936689b-f4c1-49cd-aec0-2c7878ba4d1e CLINVAR:1008168 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 56d79940-5d52-4510-a112-1460054172f8 CLINVAR:375827 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a0cb6c5d-f20a-442d-a761-244fe9e26d05 CLINVAR:375827 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7d918e30-4da9-4f9a-a688-f0154e4b5385 CLINVAR:810849 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3c824de0-9486-418d-ab1c-05a779f2c06b CLINVAR:810849 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e80df58e-5583-4111-8dbd-2f94ecdf8cd6 CLINVAR:441225 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d846f975-b909-4563-b2ab-37f6199bffa9 CLINVAR:441225 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a9b54d53-6a80-4722-a60a-b0940e77753f CLINVAR:251762 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 32831bdd-6055-4695-928b-75fa69588963 CLINVAR:251762 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d95f6018-8243-4ae6-bd0a-ef8c0bfe2059 CLINVAR:575372 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8b5877f2-88f5-4d3b-9d3c-15a4b3ed1818 CLINVAR:575372 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c1b1a8e7-146f-4093-884b-5ce22dbc5728 CLINVAR:252035 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 524bd6e6-335e-4f73-aea5-1088ddbef953 CLINVAR:252035 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5dcd6797-0ad6-4737-90f7-990f0850697b CLINVAR:251725 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 312dd0b8-c3ce-4946-a218-5d79e0012598 CLINVAR:251725 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen db66a13b-d782-41e4-a3ba-928150e8863c CLINVAR:923326 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f58804f1-3fd2-4924-96c0-dbd121ce1cbb CLINVAR:923326 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d7f7f699-b6e9-488f-be9c-cb792e290b79 CLINVAR:925475 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d8e29220-d1be-4aaa-a0b8-c3e20d006066 CLINVAR:925475 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 301c77d5-8b13-49c2-83e3-e1d1ac708009 CLINVAR:251047 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3c4f16d8-0af5-46a6-962f-db83594a97fe CLINVAR:251047 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6034093d-cefd-44cf-a83b-fcf96f91e915 CLINVAR:252111 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 750ffe89-06e7-4bd4-beff-2d48aa42983f CLINVAR:252111 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2b2599ce-55e4-454f-9715-6ffdcc5d2cbb CLINVAR:252225 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d8e64607-410f-4af4-aefe-ec454db7f02b CLINVAR:252225 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 58cf7328-7f75-4752-aa66-0221081ebfed CLINVAR:183116 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4227a526-7301-45fb-8417-df282e458149 CLINVAR:183116 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 26779612-846c-4a81-a6be-35a12d861274 CAID:CA355946316 biolink:associated_with_increased_likelihood_of MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f34254a2-2c4d-47cb-9dba-ca94af81efb5 CAID:CA355946316 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5411023d-7417-4714-b08e-c5f0129605ba CLINVAR:554590 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e0bac20a-89bd-471d-9d5b-35602cb225a7 CLINVAR:554590 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 64a45e71-8acb-4e97-b388-149c2fe110e5 CLINVAR:1683230 biolink:associated_with_increased_likelihood_of MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0bc6531b-ec1d-4816-bf15-3979f82f49bc CLINVAR:1683230 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7e25b13e-2d8d-45fe-a64e-0d3c45a233b8 CAID:CA355961295 biolink:genetically_associated_with MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7a48222b-1791-409d-8092-8e3970320517 CAID:CA355961295 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 53659551-ce67-4c4e-8878-ebafd47590f3 CLINVAR:638076 biolink:genetically_associated_with MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5fdf3fcb-5225-4fc1-a5d8-d4b1841708b3 CLINVAR:638076 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 07e6b9a2-994b-4c3e-a3be-002e9c2be47d CLINVAR:284864 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d3ab7b63-ebc1-4d88-b0a0-9f71153dd762 CLINVAR:284864 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a62eb335-cd18-4aec-b122-214ebebb2739 CLINVAR:657307 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 56b6a669-1333-48e1-b095-63e457c87dbe CLINVAR:657307 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 137cd8f3-2b52-4d20-9045-f88fe08e0777 CLINVAR:1322965 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen afb414c0-2476-4929-b8fa-66fcc92d7609 CLINVAR:1322965 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b8462796-018a-4d13-89c0-38b6bfe50a73 CAID:CA401370634 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen dc039f7b-3e3a-40de-92d1-8fce214d7f7c CAID:CA401370634 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1bbf5ff6-733c-4712-a730-8956754e5dca CLINVAR:2675756 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5a5cfe97-e70a-417f-9f47-e95abfe76b4e CLINVAR:2675756 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2626d046-a0a4-4ec9-a424-47c8ffab23b4 CLINVAR:552776 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0ace5fbd-4ef1-4c41-b6b8-592d81634097 CLINVAR:552776 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6d7743df-1e8b-4be1-9f6f-6f1c66961670 CLINVAR:555277 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen cd88daf5-9000-4766-985c-85f156262a71 CLINVAR:555277 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b464b997-e33d-4bcf-b2bf-5b0789deee51 CLINVAR:843318 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 555d89b6-92ff-48ca-8016-34592919a271 CLINVAR:843318 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b3ae60f2-31a6-4078-ae67-b93f171f5226 CLINVAR:597382 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen fd367e8a-0a77-4d40-8ded-1ecdd8d06b47 CLINVAR:597382 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d129a84b-86ef-4fbb-9aea-6466bb064818 CLINVAR:98983 biolink:causes MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1cff4ec8-d6be-4ca2-ae6a-ae6a97b88da0 CLINVAR:98983 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8a20d030-80e2-445b-9d48-386189e52267 CAID:CA412370587 biolink:associated_with_increased_likelihood_of MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c8476b38-6c56-42ac-a759-81cf6d33cf17 CAID:CA412370587 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d0014f1a-c224-49cc-b0b3-7a6637c5ed09 CAID:CA412370595 biolink:genetically_associated_with MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2bba78b0-ec85-45f5-accd-d502a9bc0e27 CAID:CA412370595 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 21412357-80fd-434b-bc21-d209fab43894 CAID:CA412370010 biolink:associated_with_increased_likelihood_of MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 77a94aae-8bd4-4e63-a2ff-1ffe579c4d9b CAID:CA412370010 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 96ef55d6-07e4-4a8a-bc1b-c86ff226dd5a CLINVAR:1511265 biolink:associated_with_increased_likelihood_of MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen af15c84b-a620-48e5-b7e6-2bb292d133d4 CLINVAR:1511265 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e5a24a21-a6cd-4a1d-aca5-2b9710f04497 CAID:CA412370011 biolink:associated_with_increased_likelihood_of MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 80101958-4306-4501-8641-a101b089b30e CAID:CA412370011 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 507ea7e0-b826-4128-a867-87d06f2b5e39 CAID:CA412370012 biolink:associated_with_increased_likelihood_of MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b295086b-653a-4969-af3b-47c2c6bbedea CAID:CA412370012 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b94675bd-6d15-465e-b6c2-8e9a07b26ced CAID:CA412370008 biolink:associated_with_increased_likelihood_of MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen fd2a1a9b-e612-4e7c-8623-42c1625efa5e CAID:CA412370008 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 75653e0b-55f2-4b0f-a489-8b59fd5eec40 CLINVAR:9893 biolink:causes MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f4e82233-93c3-40de-96ef-a199611082bc CLINVAR:9893 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 910091db-18bd-43f7-8b7f-b58e355583b8 CLINVAR:9896 biolink:causes MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 93b896c9-ab6d-482c-b913-63ed154ae283 CLINVAR:9896 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7f0f3354-9c8d-41fb-8d1b-856351dea701 CAID:CA405687674 biolink:associated_with_increased_likelihood_of MONDO:0100150 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8604668c-30d2-41cd-bd3c-a179e37cf87b CAID:CA405687674 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 29dece9e-a982-4333-8045-154719bb4b20 CLINVAR:1705621 biolink:associated_with_increased_likelihood_of MONDO:0018947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8ca5363e-e8fa-41c8-96be-4142bc8bf084 CLINVAR:1705621 biolink:is_sequence_variant_of HGNC:2974 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a6707c4c-e267-4972-93c5-ca5bfe45fac7 CLINVAR:986927 biolink:associated_with_increased_likelihood_of MONDO:0018947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 63e116f4-64b0-409f-aa5f-d714848e237f CLINVAR:986927 biolink:is_sequence_variant_of HGNC:2974 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8d88dc66-db06-475c-a666-4666251ff467 CLINVAR:224998 biolink:causes MONDO:0100150 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b73cafbc-5856-4ba2-a411-664fbc46f0c5 CLINVAR:224998 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5b3cfe44-fd67-441d-b3ec-5c5cd0f10575 CLINVAR:18284 biolink:causes MONDO:0100084 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen cd491330-e9bb-43b5-8e0f-c81079dc7f7c CLINVAR:18284 biolink:is_sequence_variant_of HGNC:129 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0b69d415-8f19-4fcd-9d3a-114f34ce0f78 CLINVAR:1409309 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6e7d98df-e156-4d23-bd0a-b3fabad91e1f CLINVAR:1409309 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 061e9476-670d-42ae-b08b-c05d208575ae CLINVAR:1411575 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9728e7d9-3a2f-4c13-ab2c-b7903e89d6c2 CLINVAR:1411575 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e0ed4b1b-6572-44e7-af22-6d95d436fe30 CLINVAR:836280 biolink:associated_with_increased_likelihood_of MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 870970f2-a659-4413-83b2-78d1cfb064cc CLINVAR:836280 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d76702d8-0a20-4f58-bbf0-2a804a44a716 CAID:CA343777356 biolink:genetically_associated_with MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fe0af587-ba6e-41df-b476-8787ba9e28aa CAID:CA343777356 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f0437810-5ba8-4092-86cd-5e98fe4ab0e2 CLINVAR:644952 biolink:genetically_associated_with MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9fff46d4-d974-4484-8b9c-947ef686f205 CLINVAR:644952 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c3c852b8-8646-4f5b-a39d-4896c4bb7ba4 CLINVAR:98960 biolink:causes MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 94cccbad-9e50-4399-97f9-483b56eff858 CLINVAR:98960 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 42bcd5d6-18ef-435c-9ed4-e1c2216e43eb CLINVAR:98959 biolink:causes MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen bd3d901e-7fff-4b0a-bfb5-45e8bc2d6e62 CLINVAR:98959 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b348b9e2-c607-48ee-b824-777d3f07c021 CAID:CA412371856 biolink:associated_with_increased_likelihood_of MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7e0c6303-98d3-4a74-94b5-4374b298d4b6 CAID:CA412371856 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6420f698-0afc-43cf-9956-cf9d46419374 CAID:CA412371854 biolink:associated_with_increased_likelihood_of MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 91a40238-788b-4165-8b1b-7de00a101cc2 CAID:CA412371854 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cf1d9d59-c8da-47ba-8286-5c9338395f54 CAID:CA412371862 biolink:associated_with_increased_likelihood_of MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0e134e21-c019-43ca-8a40-9aaba0921fad CAID:CA412371862 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 79b660bc-84a5-40b6-814a-ad50575be521 CLINVAR:9892 biolink:genetically_associated_with MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 21bf9f12-965e-448d-b2ef-b2026be3664d CLINVAR:9892 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 85162b1d-85f4-456b-b1be-b8b438433065 CLINVAR:861026 biolink:genetically_associated_with MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7a5aeced-cdb7-40ac-9b89-ce899c289e69 CLINVAR:861026 biolink:is_sequence_variant_of HGNC:12601 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 45f182a3-f7ad-432f-a50c-4fe88afd5eb1 CAID:CA412376879 biolink:causes MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen dfa5f2b3-928e-4789-95b0-d719aead2bf6 CAID:CA412376879 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c9c27b26-9819-4496-8ee5-236bfc0f4440 CLINVAR:207109 biolink:associated_with_increased_likelihood_of MONDO:0100038 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a51292f9-9583-48bc-9223-03807e567a47 CLINVAR:207109 biolink:is_sequence_variant_of HGNC:10596 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fc7952c8-cc6e-4de8-b259-b600d9916c8c CLINVAR:2820766 biolink:associated_with_increased_likelihood_of MONDO:0100038 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 905d44fb-f14b-47d2-8bc3-4d4269b548c3 CLINVAR:2820766 biolink:is_sequence_variant_of HGNC:10596 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a9d663c0-ed3b-47c7-a49f-cd3d5ccb04af CAID:CA412376875 biolink:genetically_associated_with MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen cb15383b-5b8d-4296-a576-131d5794fa7a CAID:CA412376875 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 74aec237-a4b9-43bc-8360-6d58fb4d0f44 CAID:CA412376878 biolink:genetically_associated_with MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0f96494d-c452-4ff0-a14a-4581aab3fe9e CAID:CA412376878 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3228b7b4-1329-4c19-b278-c911c63d2ad9 CAID:CA412376876 biolink:genetically_associated_with MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 843a4953-023b-46ff-85cc-7def54c8e915 CAID:CA412376876 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a61f2176-f6e7-4eab-ba8a-7ebdf24e3a9d CAID:CA412376877 biolink:genetically_associated_with MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c42474cc-d1e9-47b0-8559-5332069b6ae3 CAID:CA412376877 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1940056b-e823-4989-9925-2d7655bd9bce CLINVAR:2785684 biolink:genetically_associated_with MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8c398e6c-3f50-4cb7-932a-05f723ff1843 CLINVAR:2785684 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4f4eb2f4-b63a-42d2-99c0-04508c8b7a0b CAID:CA412379033 biolink:genetically_associated_with MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d8203b43-1fc8-480c-b4f5-13e0385d5329 CAID:CA412379033 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2d538a6b-c5e7-439a-939a-60298a3be065 CAID:CA412379043 biolink:genetically_associated_with MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5ab8d4ea-c576-4999-841e-86fcfbab16a8 CAID:CA412379043 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eedd74b4-072e-4742-ac75-9bbb7595678a CAID:CA412379054 biolink:genetically_associated_with MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3a48d2ee-4561-442f-8b57-7aa93fe765f5 CAID:CA412379054 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen abc8264b-3ec0-411d-ad9d-697efcddc4d1 CLINVAR:98986 biolink:causes MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a7be5ba9-c648-40f5-aa15-6d594f93e731 CLINVAR:98986 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 114a4ed2-d317-4758-922b-e8decee57ed7 CLINVAR:866919 biolink:causes MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 55fe956e-8e40-48f6-9a3a-d3567218670b CLINVAR:866919 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7fcbcd01-c050-46d7-b1c5-7a70ceb6c11d CLINVAR:4060894 biolink:genetically_associated_with MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c6ac87f3-d762-4a25-91ce-17968dc98907 CLINVAR:4060894 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 56f5ff8c-b555-4e5f-bd3a-73554995b3d5 CLINVAR:2122675 biolink:genetically_associated_with MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e34b6540-e2e2-466f-b64a-c588437979dd CLINVAR:2122675 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c1d750a3-2621-4f39-bdde-181c24e2f19d CAID:CA412370385 biolink:causes MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4060202b-42a0-4a88-bde8-182bb26966e9 CAID:CA412370385 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen edd13d6e-adb8-42f1-a31e-109cbb3d881d CLINVAR:98988 biolink:genetically_associated_with MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b871ef04-ff12-4b75-aaff-d5825a42e74e CLINVAR:98988 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 36536be2-5981-4b0d-8e96-4d94d082d040 CLINVAR:1478325 biolink:genetically_associated_with MONDO:0009595 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5aaf81cf-726b-41a5-945f-20630c537421 CLINVAR:1478325 biolink:is_sequence_variant_of HGNC:10031 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ad2c8eb2-0cc6-460a-8120-0d4ed7d0edf8 CLINVAR:13328 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 87373b28-910e-4add-a7da-766178388b34 CLINVAR:13328 biolink:is_sequence_variant_of HGNC:9644 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen db1010ce-b44b-48ed-9b9f-27349fec9347 CLINVAR:40563 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9056ced1-d0a6-44b1-8da3-11583f992a96 CLINVAR:40563 biolink:is_sequence_variant_of HGNC:9644 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0c22dadf-2c5a-470d-be42-459bcc5d32f1 CLINVAR:3609795 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3965e0d8-474f-4b36-9d71-8aab60318de3 CLINVAR:3609795 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 82b670df-5dd1-4d5a-907d-097596b86506 CAID:CA409103850 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f00477d5-506d-4cb0-8bb5-f015078827dd CAID:CA409103850 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f21375fe-1325-411d-9f04-ee0e15d77c44 CAID:CA409103851 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 08643194-5b47-4e37-8ecb-9cc36a9b61e5 CAID:CA409103851 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6c5b1844-afc5-429f-afa5-167db32cb1bf CLINVAR:1723210 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b5a81673-abbe-4cfc-ab7d-f4442a9a2caf CLINVAR:1723210 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 51e070ed-ce91-4933-9f08-1225987c47c3 CLINVAR:2580860 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7f70b80b-af1b-4f80-9228-b8fa2bc2c7ad CLINVAR:2580860 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 346f25f0-7762-4c5e-8b3b-665b39459be4 CAID:CA2695203125 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 80d41e6a-5c14-47c5-8440-7df7d97f20e9 CAID:CA2695203125 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen df5a6ffd-b0e9-444f-bc57-452e926ae8d1 CLINVAR:3768773 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 89c29425-7143-4f6b-a04c-b57736715fa3 CLINVAR:3768773 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fe0e4e72-35ca-4e29-a423-e109c69da85f CLINVAR:2136518 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 78c30a5f-9cd6-46ce-83bb-98bc1a93999b CLINVAR:2136518 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1e365632-43e3-4ef2-b382-adfd00f3bb45 CLINVAR:2580859 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4e07507c-0444-4cfd-92ee-9d6fe02deab2 CLINVAR:2580859 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9a17fa11-3967-4e99-b952-667b509cefb9 CLINVAR:381599 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5a1954f3-cd6c-4e5e-8d23-53461f80067c CLINVAR:381599 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d8880486-94b0-4b8b-9efd-27e660afded4 CLINVAR:36248 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 72d6b743-29dd-4004-8a3e-599de88c3445 CLINVAR:36248 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c00098f5-f097-41e5-b561-e396704fba28 CLINVAR:503699 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 802f9f83-93f2-4872-aa80-5a6d3210f903 CLINVAR:503699 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 692d1ec4-9dbd-48de-8f36-5de7d8750086 CLINVAR:496634 biolink:associated_with_increased_likelihood_of MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e26c3842-9eef-45e5-b303-1c5c148f8f83 CLINVAR:496634 biolink:is_sequence_variant_of HGNC:9832 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4f63afd3-478c-4bf0-8bba-f787a3367f80 CLINVAR:18039 biolink:associated_with_increased_likelihood_of MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e4e58ca0-6077-45f8-9b15-4e296b1991bf CLINVAR:18039 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5c221190-62c1-4866-bf3d-33ceeef59801 CAID:CA343777358 biolink:genetically_associated_with MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1e8d944a-004a-4e95-862f-64ea74cd1468 CAID:CA343777358 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e73d99dc-bbc9-48ab-aed6-eba1b6ed6b64 CLINVAR:2736407 biolink:associated_with_increased_likelihood_of MONDO:0100438 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen db90b94f-d2aa-4b83-b636-6da40ced5345 CLINVAR:2736407 biolink:is_sequence_variant_of HGNC:359 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 61f2bd41-cbb7-459c-b1ea-d734a015eae3 CLINVAR:2152271 biolink:associated_with_increased_likelihood_of MONDO:0100438 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2bce612a-4b1f-4868-ac62-a5db5a8a9551 CLINVAR:2152271 biolink:is_sequence_variant_of HGNC:359 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e91d1e66-f88d-42a6-97c1-1a80c4cc98eb CLINVAR:870937 biolink:associated_with_increased_likelihood_of MONDO:0100438 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen bb3bdca2-6b66-4afd-9970-7efefe05bf32 CLINVAR:870937 biolink:is_sequence_variant_of HGNC:359 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e1e0a6ee-e1b0-4408-8c5a-85c464c34dd3 CLINVAR:99798 biolink:causes MONDO:0100438 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ee9e02dd-6526-4c8b-8ff3-0e76777f171b CLINVAR:99798 biolink:is_sequence_variant_of HGNC:359 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 65731388-d610-4404-b92f-5e1e1dafd5f5 CLINVAR:635995 biolink:genetically_associated_with MONDO:0100438 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fd4c6212-bde8-40ce-a715-9bbfb7163d37 CLINVAR:635995 biolink:is_sequence_variant_of HGNC:359 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9a9e3499-4325-41d4-845c-f758a7f54696 CLINVAR:5565 biolink:causes MONDO:0100438 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6cf07571-4d65-4384-b86b-90eb6690d86b CLINVAR:5565 biolink:is_sequence_variant_of HGNC:359 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 740ee5c7-93f8-4aa2-bb99-e5cfb9f93d89 CLINVAR:99804 biolink:causes MONDO:0100438 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 45fb08c5-a896-40a7-a442-d3fdb2656af4 CLINVAR:99804 biolink:is_sequence_variant_of HGNC:359 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 833d8985-b029-4516-b166-f44db6a7480c CLINVAR:5566 biolink:causes MONDO:0100438 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e31dbb7a-0fe6-49a9-b29f-f19560478d13 CLINVAR:5566 biolink:is_sequence_variant_of HGNC:359 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e74f6962-b50d-4b7f-9822-a89093bafa6e CLINVAR:65711 biolink:causes MONDO:0100438 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d567290a-d6a5-4c0e-9f3c-e0ecab53ad3a CLINVAR:65711 biolink:is_sequence_variant_of HGNC:359 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dc420afb-b1a1-41e0-9a09-d71062bd5511 CLINVAR:574505 biolink:causes MONDO:0100438 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 423b448b-e4ea-4dc0-97c1-1bab131f23c6 CLINVAR:574505 biolink:is_sequence_variant_of HGNC:359 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dacc9258-7f50-4cfb-8e99-a8350aad781b CLINVAR:1451640 biolink:causes MONDO:0100438 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2f76b25d-ab9b-4448-a42d-8355f28abbae CLINVAR:1451640 biolink:is_sequence_variant_of HGNC:359 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 125aaaa5-f147-47c3-ba61-e2d1f9415fd2 CLINVAR:813151 biolink:associated_with_increased_likelihood_of MONDO:0100438 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen efaefe9c-6a55-404a-8a3d-32fae40a23f5 CLINVAR:813151 biolink:is_sequence_variant_of HGNC:359 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 71e61b09-9455-4536-aa68-f64dec26abf2 CLINVAR:812219 biolink:associated_with_increased_likelihood_of MONDO:0100438 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 14eb5c35-d4d9-450f-9e50-f9d486d28975 CLINVAR:812219 biolink:is_sequence_variant_of HGNC:359 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6f44ee0f-99c4-45dd-9fd9-224efed69c1b CLINVAR:5567 biolink:associated_with_increased_likelihood_of MONDO:0100438 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1e7a3878-9df5-4f7d-a25c-2cffdd43a2d5 CLINVAR:5567 biolink:is_sequence_variant_of HGNC:359 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen abdc132c-c4c9-491c-b3ec-998920d95fd0 CLINVAR:867104 biolink:associated_with_increased_likelihood_of MONDO:0100438 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ea9b56e1-b157-4b5f-ac24-af9a7f1f7f4f CLINVAR:867104 biolink:is_sequence_variant_of HGNC:359 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 77cc9777-3790-4a71-b327-a86adce02d24 CLINVAR:1419404 biolink:associated_with_increased_likelihood_of MONDO:0100438 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3905c083-4b4f-4331-a183-c06b91d89583 CLINVAR:1419404 biolink:is_sequence_variant_of HGNC:359 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 568a1220-2161-45f6-8846-d9c72202c2fe CLINVAR:2065408 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2c7ef625-3c87-4ce1-b188-6f2754d8e513 CLINVAR:2065408 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d385bbc0-f518-4e12-865d-f2f5dd348486 CAID:CA397397299 biolink:associated_with_increased_likelihood_of MONDO:0100438 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6204d00c-58d3-48ff-ad14-7a0d073ab03d CAID:CA397397299 biolink:is_sequence_variant_of HGNC:359 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 08285b26-c06b-4da6-aa4e-37d0dc33beaa CLINVAR:324623 biolink:genetically_associated_with MONDO:0100438 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 227a5bdc-10ac-42ff-973b-23027e300a95 CLINVAR:324623 biolink:is_sequence_variant_of HGNC:359 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1ad640c1-aa32-4061-baa0-da792d110fd1 CLINVAR:377207 biolink:genetically_associated_with MONDO:0100438 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f97e4c82-619f-4591-b0ce-613ad531311a CLINVAR:377207 biolink:is_sequence_variant_of HGNC:359 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9c22f612-51bb-4ab3-b05e-d3ec2dde027a CLINVAR:1364499 biolink:genetically_associated_with MONDO:0100438 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a3b7b8f1-b3a3-407d-91e0-0acb7d70aced CLINVAR:1364499 biolink:is_sequence_variant_of HGNC:359 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d6eed51a-78d6-42f8-8757-cdfc9bdb8302 CLINVAR:388828 biolink:genetically_associated_with MONDO:0100438 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 03ac66ee-1a2c-4ac7-8ee8-3c8635b1a14f CLINVAR:388828 biolink:is_sequence_variant_of HGNC:359 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4d83a036-9dba-49ea-a249-3b2cf916348f CLINVAR:99790 biolink:genetically_associated_with MONDO:0100438 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f1ca63a2-a15f-4f37-90e9-8a0b93b188ac CLINVAR:99790 biolink:is_sequence_variant_of HGNC:359 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 602eb162-9d96-434a-846e-3683bbae1fe1 CLINVAR:1385342 biolink:genetically_associated_with MONDO:0100438 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 92f4d5f4-5d08-4231-8838-f691df4eed7d CLINVAR:1385342 biolink:is_sequence_variant_of HGNC:359 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9e6ed26e-e33b-47ec-b8a6-15238d8fd99a CLINVAR:2754882 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5e9232a2-c275-4efb-9b86-8c8d7da84a71 CLINVAR:2754882 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 84aa9118-f9f0-40e6-8509-29409cd6d9f8 CLINVAR:1486676 biolink:genetically_associated_with MONDO:0100438 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8ad810d7-e144-4f93-8c97-0fd200a87e64 CLINVAR:1486676 biolink:is_sequence_variant_of HGNC:359 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f3299dc9-4c92-425d-a599-523b38b02f94 CLINVAR:2178827 biolink:genetically_associated_with MONDO:0100438 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen cd061878-df38-4865-b702-a3c811b7370b CLINVAR:2178827 biolink:is_sequence_variant_of HGNC:359 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 394de57d-5447-40c7-9940-6a87201b322b CLINVAR:800208 biolink:genetically_associated_with MONDO:0100438 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ef64f22f-479a-4da7-9b94-6f788e73383b CLINVAR:800208 biolink:is_sequence_variant_of HGNC:359 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 28d39167-f3d4-4a2f-8920-066895b0330f CLINVAR:1400984 biolink:genetically_associated_with MONDO:0100438 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b5908b15-dfb8-4ec9-b1ac-ba7ab654d81e CLINVAR:1400984 biolink:is_sequence_variant_of HGNC:359 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7eb252ae-6268-488e-97cf-e96059c33ea3 CLINVAR:844508 biolink:genetically_associated_with MONDO:0100438 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 686f1f82-9a01-4495-8ef3-fe4e3dda1ebd CLINVAR:844508 biolink:is_sequence_variant_of HGNC:359 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 55846130-1727-42db-a927-c7463743519f CLINVAR:3513086 biolink:genetically_associated_with MONDO:0100438 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen dd3124e6-9c85-4b4e-86b7-405ec40db7b4 CLINVAR:3513086 biolink:is_sequence_variant_of HGNC:359 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6a0cd8d2-139d-4806-8326-608ca9ea5445 CLINVAR:953315 biolink:genetically_associated_with MONDO:0100438 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 481002a3-25b0-47ad-9213-7743f87d7a41 CLINVAR:953315 biolink:is_sequence_variant_of HGNC:359 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c19833c1-ff2c-4e49-9282-c3ea870bd48a CLINVAR:2973015 biolink:genetically_associated_with MONDO:0100438 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 81de4987-1d98-40f2-83e1-3a2a1ab936cf CLINVAR:2973015 biolink:is_sequence_variant_of HGNC:359 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cc3b4219-34d1-4738-b3d7-5e073a7cd07c CLINVAR:2736405 biolink:causes MONDO:0100438 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e064ede3-6adc-44d1-841a-6f4ab00bda49 CLINVAR:2736405 biolink:is_sequence_variant_of HGNC:359 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a50f4ac9-2b57-4a0d-9196-63591d3fcb84 CLINVAR:65709 biolink:causes MONDO:0100438 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c7fca51c-6ea4-4602-9c4f-2c10ea501034 CLINVAR:65709 biolink:is_sequence_variant_of HGNC:359 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 417f9dd5-7076-4ae3-a0d2-55d5b8f15074 CAID:CA2576142335 biolink:causes MONDO:0100438 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ae73f81a-44e2-4a55-938d-3997065ca67a CAID:CA2576142335 biolink:is_sequence_variant_of HGNC:359 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3813e033-33e2-41f9-a6df-3c133fa2f9d8 CAID:CA645590904 biolink:genetically_associated_with MONDO:0100438 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 21519507-e035-465c-99fa-0d8eaea72ba9 CAID:CA645590904 biolink:is_sequence_variant_of HGNC:359 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e9e72004-b106-4a13-9a28-63d68e233929 CLINVAR:916622 biolink:causes MONDO:0100438 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 952dfe33-9ca4-4315-8412-1224577682f3 CLINVAR:916622 biolink:is_sequence_variant_of HGNC:359 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7d3c9aaa-117c-4ca6-90b7-bb3bf9079ac0 CLINVAR:636136 biolink:genetically_associated_with MONDO:0100438 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen db3dfa0b-7668-41ed-acc8-0d7e601f23df CLINVAR:636136 biolink:is_sequence_variant_of HGNC:7488 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 98f37eb8-004b-4321-a00e-2402092cb741 CAID:CA397397658 biolink:causes MONDO:0100438 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 40d2d076-40a3-47dd-b898-4382a6c85a60 CAID:CA397397658 biolink:is_sequence_variant_of HGNC:359 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen da709453-32f6-4b21-a4a4-b3631c6d1533 CAID:CA397397285 biolink:causes MONDO:0100438 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3ceb5e80-0783-4990-87bb-b69d60309cd3 CAID:CA397397285 biolink:is_sequence_variant_of HGNC:359 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8cb1a590-b6b0-4127-a840-355d5a6b327b CLINVAR:496681 biolink:genetically_associated_with MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4d9298f5-58b0-4ba8-a489-1922213d765d CLINVAR:496681 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 53b1666f-b761-4043-8e46-271f8f1916ab CLINVAR:156598 biolink:genetically_associated_with MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8472448e-2df9-4be3-81f4-8103191fbf26 CLINVAR:156598 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 353b579e-72e8-43e6-8aae-87b92330b09a CLINVAR:1700386 biolink:associated_with_increased_likelihood_of MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0a47cfe1-227a-48db-8957-411984d0e103 CLINVAR:1700386 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 49b835ea-7a08-4a18-9b07-8ef3452801d8 CLINVAR:803716 biolink:genetically_associated_with MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c8094bcd-0f6e-4fa1-90bb-1e07f2e601b3 CLINVAR:803716 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 23f07ec0-7ffe-4a62-971c-dc010979fe43 CLINVAR:2105592 biolink:causes MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 93fd9bd4-f2c8-4363-96ab-4052ca519f39 CLINVAR:2105592 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2e4ce358-198f-423b-8fb6-079d3da0da63 CLINVAR:189549 biolink:associated_with_increased_likelihood_of MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen aff3d1a7-9f36-48c1-9bc3-1408fc277181 CLINVAR:189549 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 52da8d96-3480-48b1-8cb2-419da0391241 CLINVAR:211032 biolink:genetically_associated_with MONDO:0100040 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d708c53a-8ad7-4f14-8398-124b55fe5f85 CLINVAR:211032 biolink:is_sequence_variant_of HGNC:3811 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e2c69341-a8d3-4cbe-90e6-0fa19133f138 CLINVAR:1109435 biolink:genetically_associated_with MONDO:0100040 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6327e306-7336-47a5-9f15-cd3909c56b22 CLINVAR:1109435 biolink:is_sequence_variant_of HGNC:3811 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 43f93372-6bcd-4b87-8fc0-0ea53b7c8df3 CLINVAR:1489310 biolink:genetically_associated_with MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 97ca0f31-1b73-44a5-b62f-4e57d073c6d9 CLINVAR:1489310 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b87c284a-60ba-499a-b3d2-24969fbfc4c4 CLINVAR:692624 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a5ba13ef-2094-4688-9ce7-388083ae9de9 CLINVAR:692624 biolink:is_sequence_variant_of HGNC:7419 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 41773c9d-985f-45a1-add9-9a56fd8e5e02 CLINVAR:692657 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0a066a9e-3a2e-45c6-b184-ee1b268ab3c2 CLINVAR:692657 biolink:is_sequence_variant_of HGNC:7419 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8574070f-fa34-4e32-a568-d0ed67b6fafb CLINVAR:690197 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3cf930d0-ffd3-4b40-9c7e-230e613fc49c CLINVAR:690197 biolink:is_sequence_variant_of HGNC:7491 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d3964e81-336c-4c8d-9e32-aa4a8ebb44c6 CLINVAR:690178 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0090fdce-5c5e-4df2-99cb-f4658646b30e CLINVAR:690178 biolink:is_sequence_variant_of HGNC:7498 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a501b43e-5df8-4a2d-a4c6-9fc332e5c519 CLINVAR:693064 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 631e00c0-258b-4367-bdfc-5ab9cb9c74a9 CLINVAR:693064 biolink:is_sequence_variant_of HGNC:7414 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b257d17c-1c17-49f7-948d-8289748d3c24 CLINVAR:693105 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2cfd634f-c70d-405f-9106-174548dc7408 CLINVAR:693105 biolink:is_sequence_variant_of HGNC:7414 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d7b8ad84-a690-4727-a1c6-d9580d50c75b CLINVAR:267298 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e7955c49-3646-4a66-861d-9eb6356856a0 CLINVAR:267298 biolink:is_sequence_variant_of HGNC:7479 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4baecfc6-abeb-47aa-afaa-6b411dcece95 CLINVAR:9602 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 632a45ea-9be1-4d2c-a998-c8de9c7d4f8d CLINVAR:9602 biolink:is_sequence_variant_of HGNC:7488 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 20883df0-0a65-48e4-8a7a-75f64318aa6b CLINVAR:474894 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3fb6c0b5-527d-45ff-8c69-ffa32d38c0b9 CLINVAR:474894 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d9e5b1f1-e270-4ae3-813d-665fd8e55dd2 CLINVAR:92292 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a6a14799-a12b-4873-892e-1a2b99c016d6 CLINVAR:92292 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e7d2660f-62c4-47fd-8590-c0b68f51425a CLINVAR:425918 biolink:causes MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2c7f8690-e4d3-4b3a-9c76-e0d3c1bdca35 CLINVAR:425918 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7869d0ba-4e87-4dbb-9639-72aa63576023 CLINVAR:425780 biolink:causes MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6b5e0e97-0f0d-449d-b4d7-e7dc88a966d5 CLINVAR:425780 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen af90d176-7f38-485d-a0ef-1fead737aa44 CAID:CA412376034 biolink:associated_with_increased_likelihood_of MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b8201c80-dee3-44c4-82ea-4ddfbd4cf1b7 CAID:CA412376034 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cfd66887-2934-43df-8ce0-f457327cee85 CLINVAR:98908 biolink:causes MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 301b8d88-b437-4d8c-9822-aa696a746186 CLINVAR:98908 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2d232975-edbf-4741-b6a0-084684e6604b CLINVAR:425781 biolink:causes MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen fd1b4c20-9c49-4669-904d-5e7af66fd0df CLINVAR:425781 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 80cebd9a-ed40-463a-8f10-0f4cc387d8ca CAID:CA412376047 biolink:associated_with_increased_likelihood_of MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen cdc63bf8-29ae-4d3b-8c90-f921dc33fcae CAID:CA412376047 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a1f53d9c-a261-428c-a809-b7b23e06e05a CLINVAR:2159556 biolink:causes MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7ceaf5b3-cf45-4813-8924-f23bf1db244c CLINVAR:2159556 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0566793b-2494-481d-b801-0029df6c7dfb CAID:CA412376061 biolink:associated_with_increased_likelihood_of MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 95e2d81f-4a6f-44b4-b9bb-5a5e57eb488f CAID:CA412376061 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 28b58982-9a3f-4e4d-b6da-a0e87755bd83 CLINVAR:1700721 biolink:associated_with_increased_likelihood_of MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b13d780d-2bb0-4bf4-8945-84913694b212 CLINVAR:1700721 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 40907d8c-5ac1-418c-aa43-956a1a84085e CLINVAR:99015 biolink:associated_with_increased_likelihood_of MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2b4c9ab5-d6c7-406e-bd29-5a8a686688fc CLINVAR:99015 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7cc9e84e-3b6e-4e30-b003-368821e2ea9e CLINVAR:99016 biolink:associated_with_increased_likelihood_of MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen bc502f14-6e06-4bbd-b125-e430d702e25e CLINVAR:99016 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 80b981ed-129d-43ad-8c21-853b7863078d CLINVAR:98938 biolink:causes MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4f9d4eae-2fbd-4903-b5f3-d344be96f444 CLINVAR:98938 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9d535ea3-3265-435d-bb2c-c3aaf95b49cf CAID:CA412740096 biolink:associated_with_increased_likelihood_of MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6f72054f-e06d-4655-bb86-0f73f74649b8 CAID:CA412740096 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9cbd49e0-2837-442e-a849-9d0ff60e97a4 CAID:CA412740071 biolink:associated_with_increased_likelihood_of MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6026e6bf-27c0-4d44-ae97-ce46c8a7afcc CAID:CA412740071 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e76bc158-c8df-4ffc-ba1f-cd715c2a7581 CAID:CA2695232679 biolink:associated_with_increased_likelihood_of MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen fa67f85d-5ad0-4c71-81a5-854e311d5455 CAID:CA2695232679 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 423f94f3-fee7-4529-80d4-f4aae0527d14 CLINVAR:813223 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 44ce329c-d04c-44aa-bd32-974dbc3c70f2 CLINVAR:813223 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eaa72b49-6153-463e-b709-2d14210e3b0c CLINVAR:98750 biolink:associated_with_increased_likelihood_of MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3c1ca66e-1c5d-4a9c-aeea-5833dd3f70f6 CLINVAR:98750 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen db7629b7-35a1-4fb6-8d55-9a396e368097 CLINVAR:98748 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5c3bf6f2-bf0e-4979-a946-b21652c0c705 CLINVAR:98748 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 033ddabb-80e7-473a-b252-40c9659c413b CLINVAR:996786 biolink:associated_with_increased_likelihood_of MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 88341eab-06eb-40a3-b7ba-a0a75a774bcb CLINVAR:996786 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2c496c7d-9e77-45f5-a354-daf67da50b6e CLINVAR:427866 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 23242909-10da-4246-9331-e6501e4c6846 CLINVAR:427866 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 546454cb-b9ed-46a1-b81d-33a5795eeaba CAID:CA2693440397 biolink:associated_with_increased_likelihood_of MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen fcbf69ff-f50f-4d59-82eb-7ea6f851262b CAID:CA2693440397 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c35765ac-d9e5-4da9-b77d-86221190058b CLINVAR:812416 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 896e0645-4321-42f2-85fc-45fd3a5b3feb CLINVAR:812416 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 912c91af-0c18-4f2d-b3a6-c61c7fb010ab CLINVAR:2430213 biolink:genetically_associated_with MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1fc3937a-2a4c-4bcc-ba54-8d893c24fdfa CLINVAR:2430213 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 086a804e-ebbf-4175-9779-b74d4268bdc9 CLINVAR:3249416 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 213694e2-c6bb-4f0d-8351-661789d29ae7 CLINVAR:3249416 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7be37b35-acb4-4b07-ba5b-c94feed02baf CLINVAR:813232 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0e27b615-8a0f-4a1d-9443-0062796c5f34 CLINVAR:813232 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5e765905-6ac3-4850-9af1-34f6f7dbf446 CLINVAR:636102 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f56a5978-0bac-46ba-a36e-8235c8310a8a CLINVAR:636102 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9c5015f9-8f55-4b2e-8f33-358091f90ecc CLINVAR:1993965 biolink:genetically_associated_with MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5a9a6adb-dd77-47c3-932f-b51e5b633c94 CLINVAR:1993965 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e744d1a5-213c-4ec7-a24c-8f226449fb74 CLINVAR:438137 biolink:genetically_associated_with MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen aaa733f5-a27c-44f3-8d00-4d2422f6dda4 CLINVAR:438137 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6be4b770-4ebf-4c4e-b8ba-ca6063138a4f CAID:CA412739364 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ada0b9a9-ce7d-4ca3-9f44-cdcb35a75e58 CAID:CA412739364 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3a96597b-d94e-41e4-95df-3bbc4f1d8079 CLINVAR:98739 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1fb3d0e3-edd8-4539-a79e-16b51e32605e CLINVAR:98739 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3bd6aa6b-704c-437a-a9a7-d95339bf2f5b CLINVAR:866558 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c87a0acf-ac6b-4c72-8894-1bb964b90f82 CLINVAR:866558 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 81a25d8c-e898-4111-80b3-c7878ae4e428 CLINVAR:98738 biolink:associated_with_increased_likelihood_of MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen de64b11d-fa97-4401-8041-af756d988f64 CLINVAR:98738 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b139f8bc-5d44-4782-8658-7dd481db77d4 CLINVAR:98735 biolink:genetically_associated_with MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen be0ea4c8-98ee-48c6-9fcf-1016da607150 CLINVAR:98735 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 518dad5a-ce21-4494-9b90-05e955bf323b CLINVAR:98736 biolink:genetically_associated_with MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3b4b867d-1c79-41e5-9cf7-ae27588d86c5 CLINVAR:98736 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b238cf0f-1147-4bfb-a643-113c526fd7a8 CLINVAR:872283 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b92dfbed-6074-4fe1-a20e-d7b1424c3dee CLINVAR:872283 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d5eb5062-27c0-422d-bd25-3d09c5f5acc4 CLINVAR:98754 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e06c03c9-bc4f-47b4-a69a-b7d6ca524d90 CLINVAR:98754 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2010688c-7a2d-4376-bbb7-5cb7ec37648e CLINVAR:1928684 biolink:associated_with_increased_likelihood_of MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 84bd7ce5-8a9c-4560-b69d-500ee1e4c6c3 CLINVAR:1928684 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1929898c-9011-46d5-8b93-30ed3db69eaa CAID:CA414891065 biolink:genetically_associated_with MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8a968bd2-fa5d-4f48-ad07-44869f2490d3 CAID:CA414891065 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2df76a82-43da-46f0-83d6-d917665b4e83 CAID:CA414907101 biolink:associated_with_increased_likelihood_of MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 49f9ee07-ca47-4e49-8ec4-68e91c08734b CAID:CA414907101 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 507f4566-ce04-43dd-962b-fc0263b0bd8a CAID:CA414443534 biolink:associated_with_increased_likelihood_of MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 30fa70a8-1e76-4c4b-a067-c5a5d5d2c740 CAID:CA414443534 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e23db78d-483a-4d16-8cb4-f9316043f24b CAID:CA414443538 biolink:associated_with_increased_likelihood_of MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1c197929-892a-4e6d-a72d-0f9706c548a9 CAID:CA414443538 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8d606568-8f87-40c0-8419-7dbb8ff6a24c CAID:CA414443541 biolink:causes MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen efac6cc6-2b13-4d8d-9efa-dc5d43428cb6 CAID:CA414443541 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 97237980-af81-4473-9906-ccfe9449a398 CLINVAR:425783 biolink:genetically_associated_with MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 06d32ec3-39a4-4fa1-92c4-6f2e57f781a8 CLINVAR:425783 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c6428f7b-a3c2-4f96-af54-ec257c8a44c3 CLINVAR:431553 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d5a59bd3-7d85-484c-ac9d-00ab14edcd70 CLINVAR:431553 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen db49765c-53a0-4b9e-82b4-4431cdc71f73 CLINVAR:251960 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e9ad2390-c8c0-48ff-8a0f-f655684f1e24 CLINVAR:251960 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 77bf38cf-8f9f-4d7c-b9bb-3947c11b68a7 CLINVAR:3231953 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 20dd0c6a-7b53-4dd6-bebf-39c82e5cedff CLINVAR:3231953 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a8bef866-381c-47cf-9dcd-a53ae60b86fd CLINVAR:491662 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 23bc669d-c42b-43ff-87af-5f2d542063d0 CLINVAR:491662 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 43477534-1f31-4d3f-8fef-e1477451565a CLINVAR:440674 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 49e78b3d-42a2-4ec1-8fbb-26fa63ab9b23 CLINVAR:440674 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3fbadf04-db7a-4557-a180-82e68e4c2703 CLINVAR:186005 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4c0d65ec-a6af-4585-a774-d586be568782 CLINVAR:186005 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3aa0dc4d-1b51-463d-9349-2e7dd59c1d80 CLINVAR:3583501 biolink:causes MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 187efd8e-aa19-40cb-8073-9af86cc0539b CLINVAR:3583501 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4e083545-9d07-4a59-a8fa-b9c26780105f CAID:CA402997146 biolink:associated_with_increased_likelihood_of MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f3a6d9ad-8b9e-430f-a5f7-115503626fb1 CAID:CA402997146 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a49c7be5-ea96-4f7b-88c2-1067ca3b2d78 CLINVAR:282410 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ff10530e-170d-4cf6-885b-990ebe53ab5f CLINVAR:282410 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6cf2b6ed-b3d8-4f1d-b75e-734f6bd2c921 CLINVAR:557110 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6ef32d18-3a99-48ef-a038-be26920b3761 CLINVAR:557110 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6b9586f5-ba8d-4170-a2b3-a84cff18fdbe CLINVAR:265488 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 60b672ba-afec-408b-810c-414fc62ba574 CLINVAR:265488 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3f784231-ff9c-4401-8b66-16fb461a79e7 CLINVAR:551669 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6fa68c2b-3769-4430-9419-1bb86948880b CLINVAR:551669 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f144f84b-c87c-4266-b721-5b16d7a8a4cc CLINVAR:551891 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ede48d72-abc9-4ba6-a7c9-97f923e4db51 CLINVAR:551891 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0416e923-0e4f-49fa-b85b-8f3a0605740a CLINVAR:6666 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3dd9dfda-5dee-4c14-9b35-898d851190a5 CLINVAR:6666 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6332c1ba-6894-4370-b0b6-2eb14705dab7 CLINVAR:290198 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 629ed255-e70d-464f-8bbc-bfc72a5fc54c CLINVAR:290198 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e48b7fbd-c612-4e4a-ab77-4ea6e12d8bc8 CAID:CA2837995559 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1e3b5f82-4858-4fcc-9786-d88773a2cca3 CAID:CA2837995559 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eb074637-6eef-4b96-93aa-aa0134fff034 CLINVAR:285153 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1d6cb6a0-0fd4-45fb-a7ce-8245c11c3066 CLINVAR:285153 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 366578b6-903e-43e3-b02a-b2d8bea40ea5 CLINVAR:290283 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e89e1943-4796-4b98-8129-126367053b0f CLINVAR:290283 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen be6df68c-3d5b-4232-a401-c322390cf2c1 CLINVAR:217223 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 40ec5b02-db3e-4f92-93f4-1574c845a0fe CLINVAR:217223 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 25440414-d023-4124-9e1b-034383ca1da6 CLINVAR:100333 biolink:genetically_associated_with MONDO:0019565 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1bafedbf-e654-4ad6-baf1-3e645b73e8fd CLINVAR:100333 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c9613c54-3177-4068-8aa0-417bae2aa4a4 CLINVAR:100316 biolink:causes MONDO:0015629 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 846eb121-c922-42c2-818a-adc217ca8b24 CLINVAR:100316 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6d95e398-2d6d-4af3-aa6a-c7887e9da4c5 CLINVAR:100340 biolink:causes MONDO:0015630 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 38b90627-fc94-4114-9e5e-b23d258fc1c0 CLINVAR:100340 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 653b6e5e-c67e-4831-b50c-c28b4d630af6 CLINVAR:100395 biolink:causes MONDO:0015628 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen aa20c5b4-9cc6-4f2e-9cd8-6968a045edcb CLINVAR:100395 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 09f496a9-4e1f-4d06-a3cf-f3141ebdff69 CLINVAR:2504480 biolink:genetically_associated_with MONDO:0019565 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 80ba9033-8a70-4244-8d10-ab199efe0e02 CLINVAR:2504480 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2598c926-c2b8-4c8c-a8b3-936fb07e4b22 CLINVAR:619741 biolink:genetically_associated_with MONDO:0019565 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3e57ddde-e3c0-410e-ad0c-c36ce062a113 CLINVAR:619741 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 82cf5408-4581-4028-95e2-324e6dd004ce CLINVAR:100314 biolink:associated_with_increased_likelihood_of MONDO:0015629 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6965281c-bb75-40bf-aa6d-426a01ec56e1 CLINVAR:100314 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 29357406-7fdb-4344-9cda-9bcd5301f048 CLINVAR:31012 biolink:associated_with_increased_likelihood_of MONDO:0015630 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4f74cdc5-e777-43dd-9c3a-f9ae697af87f CLINVAR:31012 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9ddac59a-39c8-41ab-bcc6-9b5a2530c636 CLINVAR:102691 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen cd4f504c-e4c8-4f49-b81a-1a36bbf1c923 CLINVAR:102691 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 645a359a-96fa-4d54-ab8c-231912b6015e CLINVAR:102690 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3cc9f4b9-3eff-4f4c-bed8-0ecf4747d742 CLINVAR:102690 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c95fbd90-203a-4558-9489-c8b14b18ccfe CLINVAR:3771197 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d713ce0d-05b1-4d44-a1a2-cad5cca8f45e CLINVAR:3771197 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e2ef1739-bd6e-48db-a3b1-aa907a4f5814 CLINVAR:102898 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4f7f8efa-dd82-4b99-9f1c-5d282f407120 CLINVAR:102898 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1c1d468e-d292-4aeb-82d6-3c47b8ade83c CAID:CA16020893 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c14887f0-069c-4bbb-ada9-2a67b7d6071a CAID:CA16020893 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c769c5f0-9aa2-488c-a200-4c278ea46536 CAID:CA16020753 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4ef2ae61-41dc-4490-baad-d2c4a10c7e3e CAID:CA16020753 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cc302d3d-4b71-4f14-ab7f-11ccb0e472dc CLINVAR:4526408 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 346afad7-b6c5-4d37-a1ed-29999a913b64 CLINVAR:4526408 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 488352e6-786b-45f0-9f99-d5e0a70bb952 CLINVAR:1337271 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 45fb0c48-47f3-4456-b1d0-b302e37bec66 CLINVAR:1337271 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 84754ba4-3226-4aef-bc22-c20ff1439369 CLINVAR:4526409 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5abc566f-b9f6-4311-ab93-15add3a92f2e CLINVAR:4526409 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 93018d61-c522-4602-8a9f-465dadeecaaa CLINVAR:4526410 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0f8490bd-24ee-4f82-b82b-fcddbc322824 CLINVAR:4526410 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4b5e3ea9-9ea2-48ae-b987-75d8c783f191 CLINVAR:4526411 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 164eddd0-743d-4164-a71a-0e3f5155ec88 CLINVAR:4526411 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 59f5eca8-8804-41eb-b319-4b832765eaed CLINVAR:4526412 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8d4cbfbe-7ea3-4fdb-b648-43de38760483 CLINVAR:4526412 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1c9d3d6f-b66a-4c3a-9595-459596d39c59 CLINVAR:4526413 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f711be22-67ff-4080-b3be-cae4c88af88d CLINVAR:4526413 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5b2676b9-44f8-4853-8879-76d366cdf75f CLINVAR:1299755 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 852a1892-3800-49bd-bd09-4184fd41c8c2 CLINVAR:1299755 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 10ea1582-a517-4e5f-b4d9-fbeb9e49cc6c CLINVAR:1184991 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d2cf506e-a7f4-4cf8-b78b-7d2ed1a307e7 CLINVAR:1184991 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e7bd9cf7-3fe7-40a7-97ed-3181bea6088a CLINVAR:639529 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 11de19da-374a-4373-ad3e-b5bb2713983b CLINVAR:639529 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 59f54b93-eeef-4ea2-a33f-0bca4f799847 CAID:CA2586965986 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6a8dea88-5bfe-4c07-9b1f-96fe0358489b CAID:CA2586965986 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e898c8bb-140f-4cbe-b69b-c313ede85b16 CAID:CA355961124 biolink:genetically_associated_with MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9d077ca3-a82c-4cc6-8c9c-fd38044497cb CAID:CA355961124 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a7dfddc1-4928-4481-bb95-254e79d7cb70 CLINVAR:2432701 biolink:genetically_associated_with MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8bfccfd5-2aff-42a9-9b16-589151a5efe3 CLINVAR:2432701 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a2e64313-dae1-4aab-aafe-1438de2f5a15 CLINVAR:712785 biolink:genetically_associated_with MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8b90d842-6b58-475c-9412-d637d1613794 CLINVAR:712785 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b4df71b7-e436-4493-b407-f6d355094145 CLINVAR:2169563 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2140a4bc-0bc4-4c9a-bbb0-cf4545f0aa3c CLINVAR:2169563 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 57e8b532-283b-4bf6-b69f-8484e3eb478f CLINVAR:422096 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen de1110ad-f96e-4f59-b88e-58231d43e991 CLINVAR:422096 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7139a24b-636d-447a-b6a5-29e18a952b4d CLINVAR:140907 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8a7f6fdf-2d5f-4e66-9e9a-30cfa86086ee CLINVAR:140907 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e643a90a-9106-4d23-8185-dd4cd3694b82 CAID:CA2580610837 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6fec8805-e255-4ce9-900c-7c6e6b3b5301 CAID:CA2580610837 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e365771e-7ea2-42fd-8b91-1cc2877569f8 CAID:CA2695215245 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c980a5c7-6e7c-4619-9276-2df6660f97c0 CAID:CA2695215245 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 072a3f72-d687-47b7-ab91-504835ab6edb CLINVAR:407525 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 05fdf6ce-b569-4124-b398-9526b546d782 CLINVAR:407525 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f10a26ec-dbd4-496a-9d87-2506cecdbc78 CLINVAR:4281695 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 04459702-96bd-42b3-a2d0-c87f0c522b96 CLINVAR:4281695 biolink:is_sequence_variant_of HGNC:28519 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e3383cc2-d141-4d53-81bb-2c3260842b43 CLINVAR:2780229 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b129c01f-41f6-4bf1-8582-3b0ec4b3dddc CLINVAR:2780229 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0602144a-a87d-4921-9a59-b2fdd5b16b60 CLINVAR:220763 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7a5f1287-c0ff-43e9-950a-f483ce70e3cf CLINVAR:220763 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bc0d6508-1588-4f98-85fa-9cd1c428a5c4 CLINVAR:938483 biolink:genetically_associated_with MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 849ed35c-9642-4de0-87bc-8a3b1f80e285 CLINVAR:938483 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 72c0f525-539a-416e-8b7a-28c5e1f83075 CLINVAR:2780233 biolink:associated_with_increased_likelihood_of MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1783812f-d1f9-44b3-b5ab-b50b0a3a1fe9 CLINVAR:2780233 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e04d3cf0-4059-48a2-b469-0ee69474df68 CLINVAR:634428 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8877090c-6719-46a1-8af4-9edbf4ea96e1 CLINVAR:634428 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d89986c4-bb3b-4ab4-8d1e-dc470dd576e4 CLINVAR:254753 biolink:genetically_associated_with MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b4f591ac-06bb-46bd-b923-8eaa0a0b7b3b CLINVAR:254753 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8bb1963d-d169-420f-805a-1ca07c3e21c7 CLINVAR:2734039 biolink:associated_with_increased_likelihood_of MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4840fb73-d600-4f67-b492-82eaa6fec47d CLINVAR:2734039 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 055baef9-0721-42ce-882c-e5184264d5ab CLINVAR:1066706 biolink:genetically_associated_with MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 48e66177-522f-4fb9-b8d2-b4d50ae55149 CLINVAR:1066706 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eddac05e-cbcd-46ac-b99b-fd5e134ebe51 CLINVAR:1454754 biolink:causes MONDO:0009595 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5aedc2f5-e2dc-49a6-aae8-0aeeaa2bf503 CLINVAR:1454754 biolink:is_sequence_variant_of HGNC:10031 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 033153cc-ea23-43bb-962b-a6fdccd08ce7 CLINVAR:120269 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d646dd00-c5eb-4100-b476-96c407f51ad5 CLINVAR:120269 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 12e87631-c024-460d-b656-bd7f3a222342 CLINVAR:561237 biolink:genetically_associated_with MONDO:0100083 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen af8217cb-94f4-46aa-8438-7f5e8597e965 CLINVAR:561237 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2cc7148b-9506-4507-a213-d0d378514ce2 CLINVAR:189996 biolink:associated_with_increased_likelihood_of MONDO:0018214 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ac8c5420-85bb-45cd-9684-40f04216d450 CLINVAR:189996 biolink:is_sequence_variant_of HGNC:10585 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 51508e4a-f124-4e78-b0db-303985ab270b CLINVAR:646006 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d2d29edd-d17f-4d7f-b5bf-5a8231786888 CLINVAR:646006 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a10c5d0e-6c30-4a10-88cf-561c166112e6 CLINVAR:428265 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2608b1aa-7f7f-44e4-b6bc-e4d38b6342cd CLINVAR:428265 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4bfa22a3-1cbf-4037-bdb2-11748ec35476 CLINVAR:1514764 biolink:associated_with_increased_likelihood_of MONDO:0100038 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6517acd2-48d9-45df-9f38-57a4b4f6e811 CLINVAR:1514764 biolink:is_sequence_variant_of HGNC:10596 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d4b80c32-622f-4eab-a700-ee152628ab1d CLINVAR:985518 biolink:causes MONDO:0100038 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d8d446f3-0c1a-4626-86d2-2921d6cfa790 CLINVAR:985518 biolink:is_sequence_variant_of HGNC:10588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 24841bc5-5586-4fc1-a3ed-fc2f7e810346 CLINVAR:978723 biolink:genetically_associated_with MONDO:0100038 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen cdb529e5-82c1-4c2f-b780-a357cb449362 CLINVAR:978723 biolink:is_sequence_variant_of HGNC:10588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ced8e62f-736a-46b0-9491-533f8732321b CLINVAR:155885 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a3f56d4c-fb0b-419a-9028-d87b7a80cbcb CLINVAR:155885 biolink:is_sequence_variant_of HGNC:7422 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4be4984e-41a8-4bca-ab48-f5fd91bf2279 CAID:CA6831693 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e84d9f73-7916-4f6d-a015-724d6776cfcf CAID:CA6831693 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bff1ef24-7975-4fec-b050-6dccc58bd697 CLINVAR:3341140 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 32b56e9f-fc64-475d-9d6e-29ce2e01aa06 CLINVAR:3341140 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1c3fb784-008f-4a67-8a06-c73d37482f53 CLINVAR:2580863 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5f5f0f96-08e5-4236-90e4-c31dbfa0c471 CLINVAR:2580863 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9decb495-940a-41f0-bec5-d744a57ef07c CLINVAR:2580855 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 03af52f6-7a59-462d-a533-902a2b12b5d5 CLINVAR:2580855 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 952babf1-42c6-47d6-996e-f6dfabe2e953 CLINVAR:1405403 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e8472282-b8cb-4373-b65b-69427be0b405 CLINVAR:1405403 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cba8edfa-1c76-44d5-b041-94529659f627 CLINVAR:9623 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e95516cf-668c-44ef-89c1-fd3e5cdf1aa3 CLINVAR:9623 biolink:is_sequence_variant_of HGNC:7496 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2fb09206-01e0-4fbf-b65b-4301a4348679 CLINVAR:30000 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3030a57f-f2d2-41f8-aa58-f5dc8f3eb212 CLINVAR:30000 biolink:is_sequence_variant_of HGNC:7496 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f3843c5c-448d-4cb1-bd39-7ce117682e65 CLINVAR:440611 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen aac72e6f-4908-4133-b2ab-150db3299daf CLINVAR:440611 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 77abbcc7-3c26-441c-87c3-0cd6f6765ccf CLINVAR:690211 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c6f417c3-f394-4e15-8e28-9b57b77e70dc CLINVAR:690211 biolink:is_sequence_variant_of HGNC:7479 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 251d7e3c-616f-4c21-b1f5-768b9ceb44ff CLINVAR:690233 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 43bd6fc1-4bb8-48c6-9d4b-6228cb6ad649 CLINVAR:690233 biolink:is_sequence_variant_of HGNC:7499 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 829fe4ef-06e9-4354-9fb3-7aef1bbd678f CLINVAR:9614 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 09630364-302a-4b4b-adaa-3c0d5f4433c1 CLINVAR:9614 biolink:is_sequence_variant_of HGNC:7495 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0958f251-856a-4bb4-9bdd-8486681a1cfc CLINVAR:9621 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 88bf0570-1870-4fce-bd66-816de643397f CLINVAR:9621 biolink:is_sequence_variant_of HGNC:7493 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ddff9ef1-8e71-4096-b01a-d46254baf603 CLINVAR:560167 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 79b10667-0210-4649-86c7-51f3c3efef2c CLINVAR:560167 biolink:is_sequence_variant_of HGNC:7493 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 66dd511b-38a6-4ffb-9ea4-775ecaffb328 CLINVAR:9574 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 22f0108b-56d2-45ed-8c27-93b13a076857 CLINVAR:9574 biolink:is_sequence_variant_of HGNC:7481 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6d7a80e2-cafe-4fdb-b84a-f7531f4f21b5 CLINVAR:9577 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2d32d2fd-f1a1-4c32-afd2-de47e5d15237 CLINVAR:9577 biolink:is_sequence_variant_of HGNC:7481 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c193fad5-cd36-4b32-bc7b-d51fa2bb4f53 CLINVAR:9585 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 85ac16df-e5fc-490f-b02a-592ab1a9c6a6 CLINVAR:9585 biolink:is_sequence_variant_of HGNC:7489 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ae169865-96d1-468d-9463-52f3362d5d3a CLINVAR:690084 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e17a3461-a261-4062-a019-69e907793085 CLINVAR:690084 biolink:is_sequence_variant_of HGNC:7489 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7ccb1631-ea27-48db-bea5-ef6dae94e94b CLINVAR:693047 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1cffeb67-3999-45a1-ba53-6d2b43ccaeaa CLINVAR:693047 biolink:is_sequence_variant_of HGNC:7414 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ecf26c9f-87c7-4b0a-9dc3-eb71144cc526 CLINVAR:418437 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ca89620b-65c1-401a-8b77-8687014a02f1 CLINVAR:418437 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3d14c0d3-eb30-4d4b-9d9d-814e32093bb0 CLINVAR:692427 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 89004f25-cb11-4a12-8c3f-625f67aff0c0 CLINVAR:692427 biolink:is_sequence_variant_of HGNC:7455 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7c434ff9-6379-49a1-9373-a875439052f1 CLINVAR:2682110 biolink:genetically_associated_with MONDO:0019565 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1819af2e-5f6f-4857-bfd1-ea97b4a07b58 CLINVAR:2682110 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e8f0b6d1-085f-4d39-813d-2ea1d903ecec CLINVAR:1191879 biolink:genetically_associated_with MONDO:0019565 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen faab0cb5-cbbe-4f7f-997b-de78fc842e54 CLINVAR:1191879 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5adcd58a-53c1-48ad-8c92-5f2fcbfa85ce CLINVAR:689873 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a0a5c42c-bdc5-4ace-bf79-f46a45eea75e CLINVAR:692717 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 66603e4d-17d7-4096-9210-a9ead853b6a1 CLINVAR:692717 biolink:is_sequence_variant_of HGNC:7419 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8dbd61d4-ca60-4b85-a28f-83840e8b715a CLINVAR:869395 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen acd21afa-ffac-436e-9a24-b92f0fda545b CLINVAR:869395 biolink:is_sequence_variant_of HGNC:7497 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2e49933d-f913-4064-aa1e-120f002bc50c CLINVAR:2328709 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1f91eb70-1210-4dd9-80a7-3857ac245471 CLINVAR:2328709 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ab76907b-59f6-4eb4-b856-faf6ae7737ee CLINVAR:2074473 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fb7ef1da-8255-4ca8-a064-c4110090869b CLINVAR:2074473 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2fc1aa4d-9cfc-4787-b243-114047962b3f CLINVAR:1677264 biolink:genetically_associated_with MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 129329b4-54f1-4deb-b55b-1d2dc6249f3d CLINVAR:1677264 biolink:is_sequence_variant_of HGNC:4439 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 359dd025-8d41-4144-9d57-f126dd7df34f CLINVAR:3902269 biolink:genetically_associated_with MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 09005cb7-a3ff-4bd8-8bf7-8b9aa992f9bc CLINVAR:3902269 biolink:is_sequence_variant_of HGNC:4439 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 25a7ef74-c338-4866-b2c5-048aa1a7ee54 CAID:CA8314813 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3423e7c4-3e96-4443-ae16-a4f9e4f7339a CAID:CA8314813 biolink:is_sequence_variant_of HGNC:4439 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e2ec3836-abbb-4960-98fc-68fa5534042e CAID:CA397319104 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 14face21-ac77-4978-9c9c-d5edd51c75e6 CAID:CA397319104 biolink:is_sequence_variant_of HGNC:4439 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 84788777-432e-4b00-a9e0-4e25ac3973df CAID:CA2695224148 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8573097e-a71e-4746-bb50-1ab847dc8494 CAID:CA2695224148 biolink:is_sequence_variant_of HGNC:4439 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 09261c6c-7db5-481e-9299-a9bf0e7ad195 CAID:CA2580610939 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 298feaea-68a1-4867-8778-36652626203a CAID:CA2580610939 biolink:is_sequence_variant_of HGNC:4439 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 430ae4bc-f28c-47b8-adaf-408ab3aa2768 CLINVAR:3251584 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b494f9ae-c89e-4e65-b810-82f5e6dbdef0 CLINVAR:3251584 biolink:is_sequence_variant_of HGNC:4439 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen da6b9502-7bdc-4d9f-ab35-26270b35f083 CAID:CA2695224150 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d305b7a4-d8ce-4041-a58d-3f5c6eff8ff0 CAID:CA2695224150 biolink:is_sequence_variant_of HGNC:4439 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 850a9d1f-a859-4928-945c-c3ccd98fd14f CAID:CA2580610940 biolink:causes MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 886a5871-9a01-41db-92d3-9b7251f5c44f CAID:CA2580610940 biolink:is_sequence_variant_of HGNC:4439 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b0ec50b8-da99-4cc5-bcff-4548d51e566b CAID:CA354447939 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 73f002f3-1f47-49d3-b3d3-e51a10f47ae5 CAID:CA354447939 biolink:is_sequence_variant_of HGNC:4444 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ef0fb5df-75a2-48c5-b178-3224b16e9072 CLINVAR:1684385 biolink:genetically_associated_with MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 358c3e25-8e86-4037-8d75-3224562a3f73 CLINVAR:1684385 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d5ff09e6-7e6c-4642-ae64-fbf7a4068a43 CLINVAR:693512 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen fbf5f6c9-1841-4ada-8b8e-1803303f4803 CLINVAR:693512 biolink:is_sequence_variant_of HGNC:7461 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 461f575e-ebbd-4c58-b7da-4bcb3cf4ec0b CLINVAR:370052 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 04a4bf0f-aa29-4429-b598-6c251fcab6a2 CLINVAR:370052 biolink:is_sequence_variant_of HGNC:7422 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 481733e0-5448-4134-a908-3b4273b9804d CLINVAR:690112 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen cff3a4f8-d64b-45f3-9f3f-292eeecb6608 CLINVAR:690112 biolink:is_sequence_variant_of HGNC:7496 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 701aa672-d839-4e6b-a37c-5636aba15aa4 CLINVAR:290141 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen affc9b66-f34e-42e4-944f-c89bc6257c0e CLINVAR:290141 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 37b70da8-9f8d-4a73-b6ca-b70a8f63d375 CLINVAR:290284 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b1e1f47d-cc12-4137-bcd7-89bbad0ced01 CLINVAR:290284 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c6de9049-6f80-4c25-b6f5-85a4f55de97a CLINVAR:94269 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6dddb0d5-66e4-430b-a934-7ac1e328dc3f CLINVAR:94269 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ab737901-3528-42a8-8f05-6006224307d5 CLINVAR:284254 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0420deb2-f234-445d-b7d9-3f9f147688d1 CLINVAR:284254 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e1baf5a9-bdbe-482b-8eab-063bfff47766 CLINVAR:281062 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5f0481b9-4bf6-4e43-abb1-3665269def86 CLINVAR:281062 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1595d55a-aca1-4c97-b39c-6949c4feed57 CLINVAR:290309 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 76d2d30f-017c-49e8-b4c1-000b551dec32 CLINVAR:290309 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d7e8f0b1-e7b1-4183-b920-8ea3f1483a42 CLINVAR:94367 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ed6585f7-ccc1-44cc-a36a-695bc499c475 CLINVAR:94367 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a68ffe3e-c31c-4917-9276-3fc5ed9229ac CLINVAR:973317 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9946fc1e-4625-409f-83c1-b8e91adcbcb5 CLINVAR:973317 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1fabb74d-28e8-4474-8c02-1cdf088c8774 CLINVAR:2758089 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3efff9ee-7977-479c-b1bf-990253c615b5 CLINVAR:2758089 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9d632eee-867f-44a9-b063-bee198090a74 CLINVAR:1444196 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0ff89490-c502-4105-b661-b0abcc3a4e36 CLINVAR:1444196 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1fd43767-2b2a-49b1-891c-e69a9ec70b8b CLINVAR:595306 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 72efefdd-85ca-4055-b9f3-0edbf64e5827 CLINVAR:595306 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 306e908e-21eb-4bcd-b42b-e85ccdfbae93 CLINVAR:468639 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 55405ec0-af7e-4a77-a3c9-eae01e08beda CLINVAR:468639 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5c620448-41ad-4956-a527-4956ac4d56d6 CLINVAR:2137655 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c5ee414c-ee80-4e32-9941-e5add826711c CLINVAR:2137655 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9c4ba7e2-7094-4cd4-b23b-5c29a9606ce7 CLINVAR:555770 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen edc8091d-9ab7-42ba-a19a-a5e5b069e137 CLINVAR:555770 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 83096786-cbfb-42ea-9217-85c5d958eb3f CAID:CA3050533369 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e2512df3-bc30-4224-8bdb-aecd1bfbd0da CAID:CA3050533369 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 69d20d5e-5308-4615-9cba-4367402fd411 CLINVAR:963357 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5782b741-9f1d-488a-918f-c11e84d20ec3 CLINVAR:963357 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e6428bfe-5fed-410b-9c5f-d5fc0454cde2 CLINVAR:9678 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6d61acae-3620-4454-a175-bb5842558237 CLINVAR:9678 biolink:is_sequence_variant_of HGNC:7427 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a8dd5648-0f13-48bb-b01d-123e9efe40a2 CLINVAR:422744 biolink:associated_with_increased_likelihood_of MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a93f1e75-1e31-44ae-ac49-9ef3436b343d CLINVAR:422744 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 22163a07-e82c-496e-8798-754c18d7b698 CLINVAR:2688626 biolink:genetically_associated_with MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e8ccc9d7-a5c0-4b1e-8e6c-ac3fa8040680 CLINVAR:2688626 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d2ba14ca-2b02-4249-8b8c-7c62c71c7287 CLINVAR:483466 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 23ad0e5e-a61d-4804-a184-cab655a348d2 CLINVAR:483466 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9eb6aa34-efea-49ec-b7ef-0624bd3d837e CLINVAR:933019 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9f5d30b6-f448-44e5-9b3b-6282efa27b4d CLINVAR:933019 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a12cdef4-6514-498b-b374-e2874e3b3785 CLINVAR:1718629 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9e76ec03-18c1-486f-bbfd-01595166202d CLINVAR:1718629 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a0d3de90-b603-4c3c-bc07-94d15b1ee5ab CLINVAR:543626 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9f60238e-15a6-48f6-b47d-470675aa4f7e CLINVAR:543626 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cc318327-4e12-4771-9e29-37034a8ac5c3 CLINVAR:571148 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d80868fe-a85a-4da5-a4e3-2f33dc878494 CLINVAR:571148 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4cfff8b1-6931-4625-b6b7-88d11af0072d CLINVAR:933054 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 88fc6c83-8c17-498d-93ce-ed38d231dd8b CLINVAR:933054 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cf87e86d-ca17-487b-b17d-52f9467f962a CLINVAR:485533 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 969c68c8-97bc-456c-b547-97124c5c7fc9 CLINVAR:485533 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fef13fe1-b77d-4f9d-bbcc-a1cb8b3dd2f5 CLINVAR:1055290 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 69f4231e-d11e-4b5a-88a5-391fb0adc130 CLINVAR:1055290 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 76a080d6-3ea0-44aa-872b-4ea6277ab862 CLINVAR:412195 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 27fae978-74d8-4958-9c3e-f61e6ef5525a CLINVAR:412195 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cb165753-575d-4444-88e1-3a66262dceef CLINVAR:819257 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b32aa15f-4f01-41a2-b53b-be64a81c06ed CLINVAR:819257 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d944a1cb-52b2-413d-8528-fd684ad913e0 CLINVAR:1057551 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d17e6574-ed7c-4c0e-a35c-c897fbfa0a20 CLINVAR:1057551 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d1ce849d-6c9a-4904-8884-f5dd6aa37777 CLINVAR:3393370 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 389fc320-e0f4-4c69-ab37-b825c0a06446 CLINVAR:3393370 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b627ae7c-eae2-437c-8672-757014258d49 CLINVAR:45191 biolink:associated_with_increased_likelihood_of MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7a699121-4333-495e-9203-2890450856c0 CLINVAR:45191 biolink:is_sequence_variant_of HGNC:143 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f82711cb-4af8-43cd-839d-2a1b6f3ac34d CLINVAR:920028 biolink:genetically_associated_with MONDO:0005021 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9ea32466-c90d-424a-839d-1f7eaafd2bdf CLINVAR:920028 biolink:is_sequence_variant_of HGNC:143 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2cbe4251-59b1-4776-abbb-3ae396a9c673 CLINVAR:42644 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 391d3fb2-5426-445b-abd9-487a099ceaec CLINVAR:42644 biolink:is_sequence_variant_of HGNC:7551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c5b3d142-42c9-4287-9c47-dc1e04b6b621 CLINVAR:42541 biolink:causes MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e2d133b8-4adb-4b40-9b08-37fddc7b4774 CLINVAR:42541 biolink:is_sequence_variant_of HGNC:7551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 024c42cc-f0bd-407d-a1d2-c264af472bb8 CLINVAR:42540 biolink:causes MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8b20fd9a-0c76-4018-8e16-829c8740ab7d CLINVAR:42540 biolink:is_sequence_variant_of HGNC:7551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dae8002f-d4c3-49b7-9084-128b0573aa52 CLINVAR:42744 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 706f2227-7e52-4e7d-8fb1-c057a6be9e12 CLINVAR:42744 biolink:is_sequence_variant_of HGNC:7551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d6c6050e-0fea-4f8b-ade4-7105b72074da CLINVAR:42827 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 29645040-b21d-4618-9747-a93ebce2e0a1 CLINVAR:42827 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2ff077f9-23e3-4231-825b-56a29e8ab063 CLINVAR:423350 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8d138eb8-b934-40a1-95c4-1e1e2565b906 CLINVAR:423350 biolink:is_sequence_variant_of HGNC:7583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c2ef488e-6f16-48c2-953c-0ca4ad32767c CLINVAR:177824 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 76d00d58-eb7a-478d-968d-a35754ee28a0 CLINVAR:177824 biolink:is_sequence_variant_of HGNC:7583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 53ee185e-8c75-417d-8a8e-5757ec142313 CLINVAR:43121 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e848ea04-160a-42e8-b04f-86d3d743b8ee CLINVAR:43121 biolink:is_sequence_variant_of HGNC:7584 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 767864ac-f4e1-42d3-bc44-8892b3496196 CLINVAR:31780 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 953b7d35-d688-431e-9d50-6d6a88cfbd45 CLINVAR:31780 biolink:is_sequence_variant_of HGNC:7584 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 00efb29e-9873-4e1c-8553-6aa029a9bc6b CLINVAR:165510 biolink:associated_with_increased_likelihood_of MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 170c9dfb-4c78-486c-a8c8-7dca7801c0c3 CLINVAR:165510 biolink:is_sequence_variant_of HGNC:11947 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8671a9b9-d998-48ea-8d16-a41b396838d6 CLINVAR:12424 biolink:causes MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8b6cf45d-ef97-4732-86ac-7e3aa6cfdff5 CLINVAR:12424 biolink:is_sequence_variant_of HGNC:11947 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ac1dd640-7a71-4586-8b21-73115214388b CLINVAR:927565 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8aeb12b5-6104-4ffc-b619-33404a370cd5 CLINVAR:927565 biolink:is_sequence_variant_of HGNC:11947 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0780ff02-671b-41c5-bd74-5b986d033591 CLINVAR:43628 biolink:associated_with_increased_likelihood_of MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b5099909-94e5-43bc-94e8-a2bcf6980b2e CLINVAR:43628 biolink:is_sequence_variant_of HGNC:11949 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6a413bcf-cbe5-4842-9f9f-59c986617ac6 CLINVAR:43648 biolink:causes MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9b0d6eaf-8dc9-4a90-a258-829467bc4dc5 CLINVAR:43648 biolink:is_sequence_variant_of HGNC:11949 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen db7d97f2-5aee-4816-8707-c18d39e40fd2 CLINVAR:43676 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 63ce806a-81fb-4d32-8cfd-89640214325a CLINVAR:43676 biolink:is_sequence_variant_of HGNC:11949 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ebb3e0ff-7a42-470f-93be-a8d1cd744d8e CLINVAR:31885 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b26821db-29a6-42bb-a6e8-7cc3dd3b27b3 CLINVAR:31885 biolink:is_sequence_variant_of HGNC:12010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c79af7d6-acab-4eec-8087-a97fc2d0acc7 CLINVAR:18331 biolink:causes MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen acad26ee-7869-46b5-bed2-57976baa6f82 CLINVAR:18331 biolink:is_sequence_variant_of HGNC:143 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 185276fc-888e-4024-bc52-c45434f18fb2 CAID:CA391629069 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a7e6f736-2e8f-44d0-b411-8ee4f8b9e7af CAID:CA391629069 biolink:is_sequence_variant_of HGNC:143 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 13285813-6560-4f59-9cb1-cab4a9438fd2 CAID:CA391629706 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen decc9533-58a0-48d1-b395-b8d1d3ef0e32 CAID:CA391629706 biolink:is_sequence_variant_of HGNC:143 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 64aacab7-f921-4ac7-99c0-11d32db0f12f CLINVAR:164113 biolink:associated_with_increased_likelihood_of MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1c13c400-5dd1-48e6-816c-67807e297e11 CLINVAR:164113 biolink:is_sequence_variant_of HGNC:7551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5aae2744-5fd2-4a2e-ae85-fac85f38cc44 CLINVAR:42537 biolink:associated_with_increased_likelihood_of MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 82e44522-e26d-4f4c-9e33-85ae003c1892 CLINVAR:42537 biolink:is_sequence_variant_of HGNC:7551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eb739779-4ca6-4ed2-87aa-d15a022d32e2 CLINVAR:164114 biolink:associated_with_increased_likelihood_of MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9d47d49c-f3b0-45d7-aee1-dd019e40a8cd CLINVAR:164114 biolink:is_sequence_variant_of HGNC:7551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1fe7ab75-0f02-4cf4-9593-16db1c79b132 CLINVAR:164070 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a5b0ce6f-390a-43d2-bedc-036af884dcf9 CLINVAR:164070 biolink:is_sequence_variant_of HGNC:7551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a10c878a-0fd3-4b44-abe6-e3c7ab88d64b CLINVAR:164379 biolink:genetically_associated_with MONDO:0005021 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ddf3b7f6-7023-47a5-8703-2404989c3721 CLINVAR:164379 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen acfa997e-6c8d-4e90-8b88-f95bdf827285 CLINVAR:177780 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen cdeb341a-7713-4a6e-a9b6-52f651402a6e CLINVAR:177780 biolink:is_sequence_variant_of HGNC:7551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 29ef3a1f-5c5f-44f8-b248-ce67a2f0832e CLINVAR:132976 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f9d9bdea-2eb9-4cd1-90da-6fe7af6e27a6 CLINVAR:132976 biolink:is_sequence_variant_of HGNC:7583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 05a52673-5b1e-4b9e-8af6-b56d55d6dbb3 CLINVAR:43479 biolink:associated_with_increased_likelihood_of MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a28759ce-81f8-486c-be30-b8ec33d18dde CLINVAR:43479 biolink:is_sequence_variant_of HGNC:7583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ba5118f5-9e86-4554-9b02-e57d510bcfed CLINVAR:43458 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 70c57298-6713-4eae-9efc-0bf8401f8481 CLINVAR:43458 biolink:is_sequence_variant_of HGNC:7583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f9f90976-84c4-4932-ade8-2e8dc2349ef6 CLINVAR:43124 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b7e5a027-5ca8-4772-b444-2a2b88952920 CLINVAR:43124 biolink:is_sequence_variant_of HGNC:7584 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e3e3c421-0eab-4e02-bc58-8660d2dd6ec5 CLINVAR:14062 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 93e05839-5b42-4eab-bdbd-e9c6e5701e22 CLINVAR:14062 biolink:is_sequence_variant_of HGNC:7584 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cc13265d-c809-4a10-8773-8488c84ca51b CLINVAR:14063 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c3d86ff6-79ae-46e2-b08a-b5827f5efc3d CLINVAR:14063 biolink:is_sequence_variant_of HGNC:7584 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d80334eb-f8a1-4e65-ae7a-95a1051dbf49 CLINVAR:43389 biolink:associated_with_increased_likelihood_of MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8f6b8b60-b0a3-4786-b5b4-1655f6adcfee CLINVAR:43389 biolink:is_sequence_variant_of HGNC:11947 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 69a3184f-020e-4b9a-9ed0-b548f9676506 CLINVAR:161396 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1ba0f0fe-0709-4a7c-ada2-6a1545af113c CLINVAR:161396 biolink:is_sequence_variant_of HGNC:11947 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8c37d454-e1c2-438e-9000-58d1eda85426 CLINVAR:43673 biolink:associated_with_increased_likelihood_of MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 704ffaeb-0a49-4d8a-bfbb-4315cee684af CLINVAR:43673 biolink:is_sequence_variant_of HGNC:11949 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3fcc1a00-252f-48d5-b973-0960a696302d CLINVAR:177636 biolink:associated_with_increased_likelihood_of MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e1366659-b9b7-4f44-9497-7b9d6790eb34 CLINVAR:177636 biolink:is_sequence_variant_of HGNC:11949 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a22c08df-7280-4727-bd64-59618ea3e975 CLINVAR:3328288 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 50b1159a-2266-4253-9da8-ef18f1eaaf45 CLINVAR:3328288 biolink:is_sequence_variant_of HGNC:12010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 17faf26a-fd4e-4307-94b2-1890045d1568 CLINVAR:43424 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8dabf8ff-eb80-439f-a5a2-1908972b8032 CLINVAR:43424 biolink:is_sequence_variant_of HGNC:12010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 13a8d058-9720-446b-ad5c-92bd08d7f959 CLINVAR:7888 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 591b805c-0d45-4433-a54c-74d1b6ba909e CLINVAR:7888 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c1e085c6-3212-4a68-9da2-a8b469be98fc CLINVAR:866421 biolink:associated_with_increased_likelihood_of MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b9c7cd35-fac9-4123-a8f3-9e803c64a834 CLINVAR:866421 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f4427f36-8d2e-42d1-99d3-7afa4b190a44 CLINVAR:99035 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 428a1932-d0eb-45b3-b901-202fe6cecb0d CLINVAR:99035 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 93cb9b84-de8a-47eb-93a1-e0d5f0fd4764 CLINVAR:298228 biolink:genetically_associated_with MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen cc48dcf1-1e90-44bf-9c53-c4dcf4c517ec CLINVAR:298228 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 401f60d7-27de-4cff-8515-de0a180dcea4 CLINVAR:99108 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen cce6c098-ba14-4e38-866d-3744ca3d829a CLINVAR:99108 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 06081385-f419-4525-998f-6d0fe31acad0 CLINVAR:7736 biolink:causes MONDO:0800472 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen bc78202a-e7ff-4cf1-933f-64e46b003e2b CLINVAR:7736 biolink:is_sequence_variant_of HGNC:2597 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cc6908d3-f6a3-4ea4-b6ce-893137e3340d CLINVAR:30224 biolink:genetically_associated_with MONDO:0800472 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1d55974c-bb46-4cf8-a952-2199a0549f59 CLINVAR:30224 biolink:is_sequence_variant_of HGNC:2597 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4ae8b1ba-cb1a-4875-a859-6e8dd2d7ff02 CLINVAR:7737 biolink:causes MONDO:0800472 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0025335c-8f77-4427-9c1d-b82fc85fd007 CLINVAR:7737 biolink:is_sequence_variant_of HGNC:2597 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 33ce3edb-bec2-4b6d-813d-ade8c0e224c5 CLINVAR:3251815 biolink:genetically_associated_with MONDO:0800472 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 922b06c0-b078-4855-92e4-a67e741e878a CLINVAR:3251815 biolink:is_sequence_variant_of HGNC:2597 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5b460761-c55d-470e-b7ce-bba24ea10d1b CAID:CA346329774 biolink:genetically_associated_with MONDO:0800472 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a8563ae1-b477-44e8-b0e2-06df70da22c1 CAID:CA346329774 biolink:is_sequence_variant_of HGNC:2597 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b4c40fc3-c057-4a93-80c7-210166875665 CLINVAR:7730 biolink:causes MONDO:0800472 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8a27322d-e5a3-45a2-bb40-ff9eee3ff0be CLINVAR:7730 biolink:is_sequence_variant_of HGNC:2597 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fdb4642c-374c-4c30-b2b8-f9c987f24824 CLINVAR:2577219 biolink:causes MONDO:0800472 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 24965f76-92fb-4f5a-8134-3e632a7f8492 CLINVAR:2577219 biolink:is_sequence_variant_of HGNC:2597 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9e8c9b59-aed9-43cc-9ad1-f6837fab0d34 CLINVAR:813356 biolink:associated_with_increased_likelihood_of MONDO:0800472 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9d4335fb-9de3-4079-840c-5e906c731211 CLINVAR:813356 biolink:is_sequence_variant_of HGNC:2597 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0a8e2bc6-24d7-4abe-a919-2e8ac0d075d6 CLINVAR:3586583 biolink:associated_with_increased_likelihood_of MONDO:0800472 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2c09c144-a8b7-4f80-8a05-e97ecbe39208 CLINVAR:3586583 biolink:is_sequence_variant_of HGNC:2597 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 37a4c223-e4d0-44d1-b270-d2d32af61c04 CLINVAR:895383 biolink:genetically_associated_with MONDO:0800472 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 679b5a12-cc19-43eb-ac28-f451e75d2daf CLINVAR:895383 biolink:is_sequence_variant_of HGNC:2597 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2730c6a8-36ea-455f-93b4-8a4647c1e8ad CLINVAR:1329081 biolink:genetically_associated_with MONDO:0800472 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 98803118-8c30-4190-9670-ec9115703b83 CLINVAR:1329081 biolink:is_sequence_variant_of HGNC:2597 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0bf0f496-929c-458f-9bec-98246d2b5aad CLINVAR:1120045 biolink:causes MONDO:0800472 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen cf768997-84b3-4be3-a58f-e3937c3a2dee CLINVAR:1120045 biolink:is_sequence_variant_of HGNC:2597 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 609c2480-c874-43df-bb52-d259741b6606 CLINVAR:402578 biolink:genetically_associated_with MONDO:0800472 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d6cbbf5a-0c26-4cdd-a474-df0cf04e0ed1 CLINVAR:402578 biolink:is_sequence_variant_of HGNC:2597 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 71757709-4e3f-4634-ac2d-40c9e5e262a0 CLINVAR:1322184 biolink:causes MONDO:0800472 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen cddee063-06c3-4b1a-9c7e-95206792ba67 CLINVAR:1322184 biolink:is_sequence_variant_of HGNC:2597 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 93ba5783-a6db-4fab-b6dd-8d8e57943ca1 CLINVAR:523943 biolink:causes MONDO:0800472 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b004274c-973e-4621-8582-23247c09da76 CLINVAR:523943 biolink:is_sequence_variant_of HGNC:2597 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 80c02f76-3f28-4b94-b2e1-69a19a627eeb CLINVAR:1338800 biolink:associated_with_increased_likelihood_of MONDO:0800472 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 06941b49-066e-42d4-af34-1d83de36fef4 CLINVAR:1338800 biolink:is_sequence_variant_of HGNC:2597 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 654f0a88-6f07-4de0-adc1-c1bd960dd5aa CAID:CA346328519 biolink:causes MONDO:0800472 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7c45199c-3cd0-4ded-a7bd-a6daa3ec8470 CAID:CA346328519 biolink:is_sequence_variant_of HGNC:2597 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b4cd8576-0a24-4129-ac04-f1d7ea58c27c CLINVAR:1335387 biolink:causes MONDO:0800472 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7a231f70-a490-45a9-864e-18b69b43fdee CLINVAR:1335387 biolink:is_sequence_variant_of HGNC:2597 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d9ea22b2-e568-42f3-9f5a-b0d68bc9790c CLINVAR:68468 biolink:causes MONDO:0800472 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d27868ca-2520-4c74-a0c5-974684853e07 CLINVAR:68468 biolink:is_sequence_variant_of HGNC:2597 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bf28d4d1-b181-4c1f-8fbf-ac099e430c99 CAID:CA346328326 biolink:genetically_associated_with MONDO:0800472 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b33b0c75-e1fb-4f63-bc06-fef5c0063305 CAID:CA346328326 biolink:is_sequence_variant_of HGNC:2597 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d0576b94-6e86-4381-97e8-228b3be897c4 CLINVAR:632362 biolink:genetically_associated_with MONDO:0800472 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 002a6011-4d86-4762-9ace-b246bd8623d3 CLINVAR:632362 biolink:is_sequence_variant_of HGNC:2597 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 07643fc8-829b-4c17-9afd-2334d1961c22 CLINVAR:2681127 biolink:associated_with_increased_likelihood_of MONDO:0800472 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9be4dbe4-9f96-4b53-b0c5-8fd34d45d799 CLINVAR:2681127 biolink:is_sequence_variant_of HGNC:2597 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9727c861-31e1-4df4-b764-f81411a91978 CAID:CA346327976 biolink:causes MONDO:0800472 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8788c858-5d88-4678-b4e2-76e430b7d4b3 CAID:CA346327976 biolink:is_sequence_variant_of HGNC:2597 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7a280612-3abd-4bb0-97e0-da37a0d2a3b1 CLINVAR:1339135 biolink:causes MONDO:0800472 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 01f51c11-2527-468c-801e-3b464d25977c CLINVAR:1339135 biolink:is_sequence_variant_of HGNC:2597 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3bbd5506-5fe0-4e1a-bc44-0e5cf0bf8c38 CLINVAR:1412564 biolink:causes MONDO:0800472 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7d0360fc-d751-4317-a64a-a47c35539e9e CLINVAR:1412564 biolink:is_sequence_variant_of HGNC:2597 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 34d5050c-c761-4a24-8932-1ae1713711dc CLINVAR:282564 biolink:causes MONDO:0800472 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 28b053de-6daa-4dc4-ada4-b9baeda085ca CLINVAR:282564 biolink:is_sequence_variant_of HGNC:2597 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 18bb37bd-b494-4cd0-916f-8c0115822853 CLINVAR:1339668 biolink:causes MONDO:0800472 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 28499ac2-9c24-4ede-8bfb-c6796c0c02d7 CLINVAR:1339668 biolink:is_sequence_variant_of HGNC:2597 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c75444bc-212b-4b52-866f-72cc58d5c4fe CLINVAR:7732 biolink:associated_with_increased_likelihood_of MONDO:0800472 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6ea259b6-03d9-41dc-908b-b0d8995260d8 CLINVAR:7732 biolink:is_sequence_variant_of HGNC:2597 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 35a0a293-54f9-4b79-aa89-3978240642a3 CLINVAR:1489392 biolink:associated_with_increased_likelihood_of MONDO:0800472 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 31db76c9-352f-4810-adf1-e49cf919ea3e CLINVAR:1489392 biolink:is_sequence_variant_of HGNC:2597 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen be964ca0-dc60-4145-8fd1-cd1a72ad906f CLINVAR:7739 biolink:genetically_associated_with MONDO:0800472 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4bcba121-09aa-4f5d-a65f-37a9924444f4 CLINVAR:7739 biolink:is_sequence_variant_of HGNC:2597 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e881fcc7-54d7-40d4-9888-1e01bb43ccad CAID:CA346327851 biolink:genetically_associated_with MONDO:0800472 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0fdcf702-e259-4561-8a04-94022748b764 CAID:CA346327851 biolink:is_sequence_variant_of HGNC:2597 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3df50107-06c8-4073-95be-310568ecd85d CLINVAR:7734 biolink:associated_with_increased_likelihood_of MONDO:0800472 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6e5e5984-09de-4ec6-ad0c-9c88b0553a63 CLINVAR:7734 biolink:is_sequence_variant_of HGNC:2597 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 16e7d06b-dc18-4ba1-b2e5-8d58fb4fac33 CLINVAR:7735 biolink:causes MONDO:0800472 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f9d32061-6944-428f-b558-dda2162b1fe5 CLINVAR:7735 biolink:is_sequence_variant_of HGNC:2597 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 119fea55-a681-4d39-ac19-4d1887de6705 CLINVAR:2203048 biolink:causes MONDO:0800472 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 72575c4b-c9d6-4015-9788-9d0a59b9d984 CLINVAR:2203048 biolink:is_sequence_variant_of HGNC:2597 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 50e76a92-e828-4764-b727-43dc0df5a4a0 CLINVAR:335952 biolink:causes MONDO:0800472 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9b2ed144-32fe-4d6a-9c20-751b2e26f573 CLINVAR:335952 biolink:is_sequence_variant_of HGNC:2597 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2dd835d6-7088-4b41-92ad-c1f8494dc54b CLINVAR:592512 biolink:causes MONDO:0800472 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen eb347332-ab0f-4aa2-ba49-38edb29dfd5a CLINVAR:592512 biolink:is_sequence_variant_of HGNC:2597 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4dde8519-fcfa-4de8-a9be-42ef475d9e20 CLINVAR:1331361 biolink:associated_with_increased_likelihood_of MONDO:0800472 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c6e2ce12-78d8-4fa9-ad59-634b1e747761 CLINVAR:1331361 biolink:is_sequence_variant_of HGNC:2597 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7bb5d8d4-2682-4c56-a96d-578e1c2e9faa CLINVAR:68466 biolink:causes MONDO:0800472 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a0efe782-50a6-4a69-bcca-90f84d739e65 CLINVAR:68466 biolink:is_sequence_variant_of HGNC:2597 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 12535f34-9edf-4aea-9c9c-4f659dcd9887 CLINVAR:1254629 biolink:causes MONDO:0800472 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e2ef2935-e13f-463b-b31f-561cfed5713d CLINVAR:1254629 biolink:is_sequence_variant_of HGNC:2597 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 025f891a-9ee9-4c86-b2f5-eecf50b758c5 CLINVAR:845455 biolink:causes MONDO:0800472 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 108c7df4-cd52-4973-b2f4-32afdfcb936d CLINVAR:845455 biolink:is_sequence_variant_of HGNC:2597 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 79022390-6c44-4722-b42e-d1bb145dce28 CLINVAR:7733 biolink:causes MONDO:0800472 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ee26bf2f-ee70-4681-a26b-17b7dec8052e CLINVAR:7733 biolink:is_sequence_variant_of HGNC:2597 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c92f2a26-8818-4cc5-8f3a-3ac136299f1f CLINVAR:96699 biolink:associated_with_increased_likelihood_of MONDO:0800472 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8d04efa4-f629-4526-ae88-b570e72bb3be CLINVAR:96699 biolink:is_sequence_variant_of HGNC:2597 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c31aff60-76e3-495f-8800-79291c0aeb08 CAID:CA346327121 biolink:causes MONDO:0800472 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3cd7e727-c2a2-4620-8791-6c83a583497a CAID:CA346327121 biolink:is_sequence_variant_of HGNC:2597 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c6d78869-7e64-4dbc-ba1f-7a7b69582a64 CLINVAR:813355 biolink:associated_with_increased_likelihood_of MONDO:0800472 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 30fcea26-8817-4d93-ad27-144a126f8d65 CLINVAR:813355 biolink:is_sequence_variant_of HGNC:2597 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8c525031-1bce-4d0f-a014-550e510d14ae CAID:CA346326874 biolink:causes MONDO:0800472 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c535b405-d482-486f-a9f0-b126c2e3a292 CAID:CA346326874 biolink:is_sequence_variant_of HGNC:2597 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7ddd334b-0775-4681-9f16-c215cd9165a4 CAID:CA2580610860 biolink:genetically_associated_with MONDO:0800472 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1a161691-610b-4fc0-87a5-539b01fad126 CAID:CA2580610860 biolink:is_sequence_variant_of HGNC:2597 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 784cd2c1-352d-4160-b4dd-54a85dfbd69e CLINVAR:3777763 biolink:causes MONDO:0800472 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 744fdd8b-6ae1-464d-9029-a5a8def3ab94 CLINVAR:3777763 biolink:is_sequence_variant_of HGNC:2597 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5b18e992-fdc7-4435-a752-8092d43577ad CLINVAR:68682 biolink:causes MONDO:0000572 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6c52ca92-d427-4079-8839-fa03961a101c CLINVAR:68682 biolink:is_sequence_variant_of HGNC:9831 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8ead5f4b-ce4d-4dcf-8e29-b89bfa02a8f6 CLINVAR:976230 biolink:causes MONDO:0000572 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d0ced7bd-20b3-440e-8705-c638114ebdf7 CLINVAR:976230 biolink:is_sequence_variant_of HGNC:9831 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 05d91117-af36-4d17-8cfc-4d8309768799 CLINVAR:1339536 biolink:associated_with_increased_likelihood_of MONDO:0010938 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5cf2b7dc-f105-4f81-90f8-3c6c7a2606e4 CLINVAR:1339536 biolink:is_sequence_variant_of HGNC:6193 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 633bf32d-8d06-4b86-b033-9365792ba2fe CLINVAR:572507 biolink:associated_with_increased_likelihood_of MONDO:0010938 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 02455f5d-5a4e-4ac7-9b31-fcab56fb9bf8 CLINVAR:572507 biolink:is_sequence_variant_of HGNC:6193 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fe25616a-47fe-40be-b693-cb1818a72a1d CLINVAR:191196 biolink:causes MONDO:0012163 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen bb268f6e-c9cf-4b78-a113-d080abcd9f24 CLINVAR:191196 biolink:is_sequence_variant_of HGNC:6024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f8325f09-9a05-492f-a5da-fb6c0ee80f4a CLINVAR:1693469 biolink:causes MONDO:0012163 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8890aa41-f104-4b37-b902-84572d8cd7ef CLINVAR:1693469 biolink:is_sequence_variant_of HGNC:6024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 58bac5c2-54fc-4396-bca0-968f15a871c5 CLINVAR:3251745 biolink:associated_with_increased_likelihood_of MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 379f6dd8-df03-4c33-9039-59bce7515949 CLINVAR:3251745 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c03b2a19-bbb7-4840-9e8b-9c0a5d929958 CLINVAR:872164 biolink:causes MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 154387ba-04e1-4976-8b35-af69a3f126d2 CLINVAR:872164 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 313a8ce1-6753-4f12-98b3-ff3fb5157d67 CLINVAR:1453759 biolink:associated_with_increased_likelihood_of MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5883590a-ec40-4113-8836-123437354d09 CLINVAR:1453759 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4d9c1fd2-e1bf-4ae9-b92d-92be8205c423 CLINVAR:68260 biolink:causes MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 61693d7b-0db1-4f15-bb19-694eed5b9a74 CLINVAR:68260 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 24746704-c54a-470d-a7df-aa024122eea5 CLINVAR:555264 biolink:causes MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d35a8355-4e79-4184-b088-a2a85447fb5b CLINVAR:555264 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e828bc51-cadd-4e7e-8be8-2003667e14da CLINVAR:36386 biolink:causes MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a8421f7e-bf20-406a-b61b-f10ba16c11de CLINVAR:36386 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 30aeb23d-12be-4d11-a22c-248d4bedf216 CAID:CA386960044 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 28bc819e-9977-4752-b09e-de0774226ae5 CAID:CA386960044 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b2fc95f5-381d-466f-bc29-d2676c4e4c70 CLINVAR:693061 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 65ce5b69-a318-4a2b-be68-30d8bbca679c CLINVAR:693061 biolink:is_sequence_variant_of HGNC:7414 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f7dd1803-3e63-4d3c-ab34-cff9aefa14cb CLINVAR:417982 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0b2db95f-8e0d-405a-95d3-a96b7bfbbd24 CLINVAR:417982 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f97992b9-df26-4e12-a816-9b099278e901 CLINVAR:298229 biolink:genetically_associated_with MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f5f1877c-5d59-449f-972f-76e021b2b2f6 CLINVAR:298229 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fe4a5027-3369-4aa4-b435-7caff31f7a4e CLINVAR:932889 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 75c4e267-78e5-40d6-b532-ee115fca6e84 CLINVAR:932889 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 570af9cc-6210-4aa8-baa9-709e2f2d1dd2 CLINVAR:761732 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3d724fff-8057-4c6e-9595-7fa8448f1401 CLINVAR:761732 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7896d5c1-bfef-4d06-a8f9-68e0c447181f CLINVAR:1481089 biolink:genetically_associated_with MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen be4e1bbc-81a4-4ac0-83a3-71583e33402c CLINVAR:1481089 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0ff4cdc5-3a56-4afe-9291-5fe1e299db6e CLINVAR:99430 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 20fc04ab-7ec1-40ad-a77d-d4fa48a447ba CLINVAR:99430 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 295d0c67-6b13-4bd2-a663-c2c0201dc296 CLINVAR:289310 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a3883c17-bf86-4835-9a2d-384ef6449d90 CLINVAR:289310 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 822e392a-47a9-4fed-9a43-bbe415a95e91 CLINVAR:99403 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2bb4c2fa-89f1-42df-a8f4-ff670cd4a0b4 CLINVAR:99403 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 99c6e188-0775-44ad-99a4-2f5a96a33328 CLINVAR:21013 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fa5af73c-ba38-420d-8273-ef11008c3338 CLINVAR:21013 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3c555bc2-a4cd-46ee-b8c6-9756fd7aba6e CLINVAR:3384229 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ad22e43a-0e77-49ab-8c24-879a6e1f822a CLINVAR:3384229 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 515c0be1-9881-4d3c-96a4-7faec59416bd CLINVAR:1337790 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d8572510-e46a-4446-aec9-5740230206f5 CLINVAR:1337790 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bf9446d0-b1fd-43af-b758-d8251296fb8d CAID:CA367401432 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 052b0e2d-f165-4d61-9157-179be803d458 CAID:CA367401432 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4bed9fe0-3795-4fbe-b654-e7d60af29eb5 CLINVAR:265174 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b65b7de4-80e4-48e6-8b5f-041c78e98bcc CLINVAR:265174 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f1c5622f-f26e-434c-95c2-5cd9524dc8ab CAID:CA367401650 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 486b4f17-f504-474b-921b-3d0ad5376cd5 CAID:CA367401650 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3d607894-d538-4b02-ac6d-1956fc4f976d CAID:CA367400605 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5e81a2ed-fa47-4e1e-b020-111537ded664 CAID:CA367400605 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 29231c98-ff2f-411d-9e82-50bb2eaa4326 CLINVAR:2735005 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6faa3c5c-aa0b-4166-9adb-5d8d9b14f74f CLINVAR:2735005 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 42766e93-52a3-40e8-98ed-47a93843e70f CLINVAR:3720739 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6e2377a2-6c12-4f10-ba2d-4a24babd1940 CLINVAR:3720739 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 47bb8745-ffd1-4a85-9fa9-f64deac04a88 CLINVAR:804861 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8389b689-8974-4180-b5fe-4f5d215185ce CLINVAR:804861 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 870ee178-0291-4506-b1fa-15536fe10b82 CLINVAR:1700683 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 67f96eb3-40e8-49f5-acdd-e3f56cebb0e9 CLINVAR:1700683 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 54676de3-f2a6-4d37-8f8e-82661d446870 CLINVAR:2137411 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 71e1aa69-8dc6-4568-bf37-65b4a10bb21c CLINVAR:2137411 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0d36fcfe-0642-42b2-aa38-9174fdb2ac95 CLINVAR:2137408 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9e4f5be4-e64d-45c1-8d88-95ab8c4334d2 CLINVAR:2137408 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 846b3641-5796-4b60-8d7a-6c1b695c414a CLINVAR:102827 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7abb3c97-f33a-45a3-972c-393e818f7699 CLINVAR:102827 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dd169518-6824-4274-a5b8-fc2118134a9a CAID:CA16020809 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 34e8085f-43e5-4275-9db8-94bdfd21000e CAID:CA16020809 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b9cd8691-fcb8-437f-acdb-72604c443808 CLINVAR:102497 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c6a5403e-6750-4706-bd9e-6ddb2bba4d81 CLINVAR:102497 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1a711dd4-7fd4-452a-91fb-d87407a9ca56 CLINVAR:102797 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 63df1cc0-0c05-4b67-b5c0-629b65eeb6a8 CLINVAR:102797 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 16108f35-9e57-4847-a7e9-313fb84ef345 CLINVAR:102799 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e6c82e8c-dd45-4626-882a-998ea63f9fef CLINVAR:102799 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 28702fdf-daf6-476b-b0d8-d19e5ad2c540 CLINVAR:102732 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c20015c0-76f8-4492-aadb-65f2fb21530f CLINVAR:102732 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 42878bab-29e1-42e1-9ae0-97e3b40dc1e4 CLINVAR:1711524 biolink:associated_with_increased_likelihood_of MONDO:0014493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6b837ced-76cd-4a0b-a8e2-8df5b1f4c34c CLINVAR:1711524 biolink:is_sequence_variant_of HGNC:2505 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b6e3788a-cedc-448d-b3a7-dc3ae95cdc4e CLINVAR:2203245 biolink:genetically_associated_with MONDO:0014493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 73c76d9d-d302-4022-b622-edd30877c019 CLINVAR:2203245 biolink:is_sequence_variant_of HGNC:2505 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 18c39f43-bc75-4aa1-b6bd-742ab00fc776 CLINVAR:623475 biolink:associated_with_increased_likelihood_of MONDO:0014493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2f213a04-c720-4d7d-819f-7dd768b7b010 CLINVAR:623475 biolink:is_sequence_variant_of HGNC:2505 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 50a7d119-ac69-4666-80bd-2a6fdbc0ccd8 CAID:CA350138800 biolink:genetically_associated_with MONDO:0014493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9648b3de-7ab9-4b55-b02e-63dc452b7263 CAID:CA350138800 biolink:is_sequence_variant_of HGNC:2505 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aeec8383-4335-4676-a375-28a6e5c9f624 CAID:CA350138732 biolink:associated_with_increased_likelihood_of MONDO:0014493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 52c3e606-1d5d-4627-ada3-75c1afe7be84 CAID:CA350138732 biolink:is_sequence_variant_of HGNC:2505 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 053266d3-75b5-4299-a25e-c86882e764ac CAID:CA350138731 biolink:associated_with_increased_likelihood_of MONDO:0014493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen bdfed2c2-fbdf-45e6-bd5b-827a09dc1bce CAID:CA350138731 biolink:is_sequence_variant_of HGNC:2505 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 15e86de4-c79b-41fe-b629-e6b89516441e CAID:CA350138990 biolink:genetically_associated_with MONDO:0014493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5b2638e1-82a3-4e08-86f7-9595b1139ec3 CAID:CA350138990 biolink:is_sequence_variant_of HGNC:2505 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d18fdc74-c4b7-407c-91db-8902e84b0d07 CLINVAR:542070 biolink:genetically_associated_with MONDO:0014493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d9df2b62-4392-41fa-bf43-c5ab12df06c8 CLINVAR:542070 biolink:is_sequence_variant_of HGNC:2505 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 435f7ab4-7791-41b3-bb21-1f10b592597c CLINVAR:827701 biolink:associated_with_increased_likelihood_of MONDO:0014493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen cb23b6b7-7d6f-4825-a19d-776373a0f2d2 CLINVAR:827701 biolink:is_sequence_variant_of HGNC:2505 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 64ac95d5-3ce4-4812-9bfd-df87dc335243 CAID:CA350139018 biolink:genetically_associated_with MONDO:0014493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4bfb2d08-b6d8-40fd-9645-d8d9e6cc82ad CAID:CA350139018 biolink:is_sequence_variant_of HGNC:2505 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8b10b4a1-2ba2-4c37-8248-16215081bd46 CLINVAR:636389 biolink:causes MONDO:0014493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3a3fc843-7c23-4548-9019-90acb1f329f4 CLINVAR:636389 biolink:is_sequence_variant_of HGNC:2505 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4b315fff-1677-4b76-9759-8e33b85df923 CLINVAR:1439020 biolink:causes MONDO:0014493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4277a81f-b973-4027-8e89-f65bfc8735f3 CLINVAR:1439020 biolink:is_sequence_variant_of HGNC:2505 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7ee8f330-b7c7-4e50-8e4b-6fe1bf3ba353 CLINVAR:161109 biolink:causes MONDO:0014493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f6e688e1-f2e5-435a-ba9f-cfa8b916e4b9 CLINVAR:161109 biolink:is_sequence_variant_of HGNC:2505 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 74840585-f1d6-4eed-80f1-e9cc86d27511 CLINVAR:161112 biolink:causes MONDO:0014493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3569a9ec-5ae1-40fc-8c9e-f509bcd82c13 CLINVAR:161112 biolink:is_sequence_variant_of HGNC:2505 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 00db6470-1173-4e64-949f-102bd0a2122a CLINVAR:161110 biolink:causes MONDO:0014493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2c48dc74-f137-494a-bc05-3cc4525a1f72 CLINVAR:161110 biolink:is_sequence_variant_of HGNC:2505 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 23789e09-2cbe-4a1b-9a01-bf81b54246c4 CLINVAR:432079 biolink:associated_with_increased_likelihood_of MONDO:0014493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6442ae91-1073-46d9-9ba3-55833a621b42 CLINVAR:432079 biolink:is_sequence_variant_of HGNC:2505 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 160f9ecd-3777-46ab-8b75-ad0fa7b2fe5c CLINVAR:945024 biolink:causes MONDO:0014493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 69e420bf-f036-4c95-8932-b03c43e99209 CLINVAR:945024 biolink:is_sequence_variant_of HGNC:2505 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f922bb8b-49d6-430b-8a00-550f875cc999 CLINVAR:644629 biolink:causes MONDO:0014493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ea5cf5d0-37fe-41fc-a28b-c9d06305ae65 CLINVAR:644629 biolink:is_sequence_variant_of HGNC:2505 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c28c914b-8b2f-439c-821e-ad68a030a44e CAID:CA2573320363 biolink:causes MONDO:0014493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 35195f52-c644-461c-bcf8-4ab890628994 CAID:CA2573320363 biolink:is_sequence_variant_of HGNC:2505 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d9637458-2ac5-4afb-aa70-d4f43a603062 CAID:CA2573320362 biolink:causes MONDO:0014493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f729ef5e-8fd5-4fb5-ae94-6ce33f4520a3 CAID:CA2573320362 biolink:is_sequence_variant_of HGNC:2505 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cf9f7d89-5bef-4e3d-960f-ad639e84ae2d CLINVAR:304 biolink:associated_with_increased_likelihood_of MONDO:0015628 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5a4dc732-4d2b-46cf-a1d2-56ec966d1fd5 CLINVAR:304 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a290d90e-3fd8-4eac-bef6-f74e95af4dd6 CLINVAR:100323 biolink:associated_with_increased_likelihood_of MONDO:0015630 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e2699d26-c193-4540-ba57-ddf79316de7e CLINVAR:100323 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 419e896b-864a-4b94-b686-40009474d5a5 CLINVAR:551306 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d8981517-cae6-4676-bf10-d864efecb551 CLINVAR:551306 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 77ad765b-b3fc-41af-ac3d-130644a6ed9c CLINVAR:1322967 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c7f7f265-9e81-43eb-a34b-32449e5d6c65 CLINVAR:1322967 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5e44b83f-1575-4f6b-b885-122d667df08c CLINVAR:1322949 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9e7e245e-76ab-431a-be96-b852768f7a45 CLINVAR:1322949 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6358105f-0c0a-4d2b-b44b-6ef97f568a5f CLINVAR:972744 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 464ee812-f05f-4969-a886-844845d752d9 CLINVAR:972744 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6ee4d5aa-48c9-441f-8765-bd71057adc3f CLINVAR:456434 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f9456ace-825b-4936-b195-0f6faaca087b CLINVAR:456434 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b284282c-9b25-41fe-8114-4b402d48a92d CLINVAR:1034639 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6772f582-559c-421d-b568-cdcd280b0ccc CLINVAR:1034639 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1d1e5905-9e4f-441a-bd77-3b67576f14f4 CLINVAR:2506145 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8ce6aba5-1c2e-4d0b-85e5-85b8081a4595 CLINVAR:2506145 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3ca0e66f-9399-43ba-9908-695740eec305 CLINVAR:3235260 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen fd46ab40-d220-4ac8-8a01-2b45fed09511 CLINVAR:3235260 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6714a4d9-3445-4126-b20a-800e40edcb21 CLINVAR:938008 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 14c0e01c-f7a2-4b86-bfd7-169028235cb2 CLINVAR:938008 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4862af3c-44bf-4109-97c5-2047063a3507 CLINVAR:2138117 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9c4369b7-8a30-423c-9ff8-77cfc6dc5414 CLINVAR:2138117 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9229474e-9d26-42f3-a33a-fc050dfd1110 CLINVAR:1972115 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9cd15d3e-b05a-42b5-85fd-e9180d5adcc7 CLINVAR:1972115 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bbf01f50-dd7f-4be6-9f8c-d667a2607f1b CLINVAR:1945670 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6694ecb8-49eb-4d2d-b78a-1d191840048c CLINVAR:1945670 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9ea496f5-aafc-42ec-83b8-5077d9632abf CLINVAR:439019 biolink:associated_with_increased_likelihood_of MONDO:0700269 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a27f0f50-f34b-4b5c-9122-0dc295fc0cec CLINVAR:439019 biolink:is_sequence_variant_of HGNC:1101 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a791a89e-0fd4-45e8-a9fb-ce1de6c8c2cd CLINVAR:55718 biolink:associated_with_increased_likelihood_of MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8bdca00f-20be-4d0d-89e4-14d39e05ee8e CLINVAR:55718 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 823eac53-975a-4584-8e6b-aaf20b49420c CLINVAR:55415 biolink:associated_with_increased_likelihood_of MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3c8c03c4-fdfe-4fa7-9847-ab932bfb7758 CLINVAR:55415 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 95ba20a6-212b-4c05-ae5c-c8fa025c8db5 CLINVAR:491098 biolink:genetically_associated_with MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1cea83af-7a5c-413a-8ffe-b4c536bc2456 CLINVAR:491098 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4ded6873-7ace-48fc-9a0d-362a95fe33d1 CLINVAR:52568 biolink:associated_with_increased_likelihood_of MONDO:0700269 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5a83e154-9cfc-4807-a7fe-ef5a83092591 CLINVAR:52568 biolink:is_sequence_variant_of HGNC:1101 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 27ec54b2-7b16-47b4-9afb-31caf836a6ee CLINVAR:55573 biolink:associated_with_increased_likelihood_of MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3d6c2e4f-8674-43a7-9941-a144b907ba6c CLINVAR:55573 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 32878b5e-ae0f-4e42-bdfd-a7ed995d1501 CLINVAR:489785 biolink:causes MONDO:0700269 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen de107d2e-3757-4b8d-a235-89abd82f311d CLINVAR:489785 biolink:is_sequence_variant_of HGNC:1101 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ec9ac447-a5e7-4027-b5e7-b759c5e92da4 CLINVAR:52400 biolink:associated_with_increased_likelihood_of MONDO:0700269 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen db1ce144-c5d0-4065-9d59-5e01afe18cfb CLINVAR:52400 biolink:is_sequence_variant_of HGNC:1101 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 26ba4107-372d-49e7-b36e-26f049ba61ff CLINVAR:55505 biolink:causes MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen be7d77fe-d730-48f5-9370-5685364add1a CLINVAR:55505 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bcb83dda-427e-4d65-91d5-adffe83a5a78 CLINVAR:55412 biolink:associated_with_increased_likelihood_of MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9a8053b5-8815-487e-94d5-7bf41ab9f3ef CLINVAR:55412 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a52b4faa-7397-42a7-8e2a-6f080502e143 CLINVAR:489784 biolink:associated_with_increased_likelihood_of MONDO:0700269 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 169a3f0e-dd97-4067-98ec-2b1dc5424175 CLINVAR:489784 biolink:is_sequence_variant_of HGNC:1101 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 379dd0f2-24c8-4973-8041-3a155cb58987 CLINVAR:55552 biolink:associated_with_increased_likelihood_of MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c327db33-9d8e-44d1-a52f-27e844131f51 CLINVAR:55552 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a4a6ea93-4340-4f9d-a0c7-bb5428d73e5f CLINVAR:91649 biolink:causes MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ddd35449-55d7-480a-8b6d-9e8d81628dd4 CLINVAR:91649 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e078234b-9bd8-487f-9128-81adfce0808f CLINVAR:232915 biolink:associated_with_increased_likelihood_of MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 543038b6-8e9d-4cbf-9376-2bb8913faf4a CLINVAR:232915 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a924a1c9-26ea-4309-b728-30534572f61e CLINVAR:491071 biolink:genetically_associated_with MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen be742890-a232-4f79-8e5c-ab849b58fc78 CLINVAR:491071 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 55fc6d51-85e1-4b7f-8ed3-7245a586f83a CLINVAR:418671 biolink:associated_with_increased_likelihood_of MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ead4aebb-8ac3-4e37-9bb4-b43a66b155f4 CLINVAR:418671 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8ba335df-bd35-4080-a1c7-eafecc33edc2 CLINVAR:627968 biolink:associated_with_increased_likelihood_of MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 43114517-644e-437b-bba1-a3501d1f3ac1 CLINVAR:627968 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7e04bf0e-7120-464c-a863-7db711086798 CLINVAR:245973 biolink:associated_with_increased_likelihood_of MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 04c85850-279b-4b2d-86f0-e31050744666 CLINVAR:245973 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 85e00a0d-4956-4a36-87ee-c2035f756805 CLINVAR:409564 biolink:associated_with_increased_likelihood_of MONDO:0700269 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ad512a09-c68f-4a0d-a965-a456766aa887 CLINVAR:409564 biolink:is_sequence_variant_of HGNC:1101 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b09edf36-4dca-416e-8244-72bf1d97af35 CLINVAR:185084 biolink:genetically_associated_with MONDO:0700269 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 644bda94-0cab-4d2b-8645-8e4b3ceee07d CLINVAR:185084 biolink:is_sequence_variant_of HGNC:1101 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 66351afb-e428-4599-a558-dc42e585f34b CLINVAR:419217 biolink:associated_with_increased_likelihood_of MONDO:0700269 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5610c54f-c873-4437-87ac-03903993de18 CLINVAR:419217 biolink:is_sequence_variant_of HGNC:1101 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 845030a2-376d-47f5-9448-2f83c5fcaab0 CLINVAR:96859 biolink:associated_with_increased_likelihood_of MONDO:0700269 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7986d97e-012d-44e3-b433-3c3608372426 CLINVAR:96859 biolink:is_sequence_variant_of HGNC:1101 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c74f0d83-61bc-4cdc-9e65-55ae7954b5f4 CLINVAR:232537 biolink:associated_with_increased_likelihood_of MONDO:0700269 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1580d98b-52bd-4e68-9179-ab9d395d45bc CLINVAR:232537 biolink:is_sequence_variant_of HGNC:1101 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 449e4aa5-391b-4ebb-9e12-f560086391c7 CLINVAR:52780 biolink:associated_with_increased_likelihood_of MONDO:0700269 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen be402d6f-c804-4620-8d51-bf853f3cf882 CLINVAR:52780 biolink:is_sequence_variant_of HGNC:1101 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 86265535-ca54-457f-a20b-78d2c4bf14b0 CLINVAR:96944 biolink:genetically_associated_with MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 425e2678-1f76-429c-b03e-0918546c3276 CLINVAR:96944 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3c635b27-c458-45cb-a0dc-a344a4e6eb20 CLINVAR:1685834 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3d5e1108-e18e-4cc2-8285-44770652cf80 CLINVAR:1685834 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 831c1f80-c6ff-4eef-a604-284061158dae CLINVAR:142624 biolink:associated_with_increased_likelihood_of MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a3fd6fb4-c503-4fce-ad24-a7077ec82dda CLINVAR:142624 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f4107744-ec50-4acc-88f3-31409a7309b2 CLINVAR:843641 biolink:causes MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen bc8185fc-cebe-45c3-bb9d-92e963aa1be5 CLINVAR:843641 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e0958d53-d6ba-49ae-aafa-e05d126173d0 CLINVAR:188060 biolink:associated_with_increased_likelihood_of MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 88369a48-72b3-4512-9410-a59496c70cf3 CLINVAR:188060 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7de348d8-f637-4bd7-83e2-df02737e6d53 CLINVAR:376631 biolink:causes MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen cecedd58-bdb7-4ffa-b6c6-d27b14163371 CLINVAR:376631 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1c7c3434-e927-48d8-bf26-b57297b4ae09 CLINVAR:458520 biolink:genetically_associated_with MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b5636b45-19c4-4a72-b56e-a2b15c6648c2 CLINVAR:458520 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 54fefebb-353e-4f21-ac6c-5e1aeba60620 CLINVAR:2432729 biolink:genetically_associated_with MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 256268ef-e59f-4fba-89ca-ef8946af70d3 CLINVAR:2432729 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 32c26247-e2e4-409d-aa74-55b6cdc97130 CLINVAR:856299 biolink:causes MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5cd748f2-3fac-40a4-bb64-322e7a83aa72 CLINVAR:856299 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a5c6ffb1-d29a-4774-88f9-d222fd3463df CLINVAR:1759844 biolink:causes MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3c4d26ce-10a3-4d96-94d9-b65e6dd39c57 CLINVAR:1759844 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fbd50ab9-0d21-42c2-bedc-07d058c307ec CLINVAR:428888 biolink:associated_with_increased_likelihood_of MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen bed25ef9-ea55-47c9-a565-64b3b8c94cc1 CLINVAR:428888 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c48d29d6-c7b5-4800-939c-e9f0155f0257 CLINVAR:3147976 biolink:genetically_associated_with MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 27a6d9be-96a4-4bef-87a3-61476e8cf912 CLINVAR:3147976 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 843a2ab6-3756-41a2-b97e-79475702f350 CLINVAR:492752 biolink:causes MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 89156f4d-75a5-4d8f-9be3-1b04f70f7f5c CLINVAR:492752 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 21a23c4f-eda7-40f3-ace3-4550e7aaceae CLINVAR:481015 biolink:associated_with_increased_likelihood_of MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4dd1f084-4c09-432a-8cb5-7b0144095d32 CLINVAR:481015 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cc15e640-a7ff-4959-b56f-fae4167b19b3 CLINVAR:376680 biolink:causes MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 319ec067-1724-455e-bc07-968490fd211b CLINVAR:376680 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d9f420ca-de1a-4b6b-8c3d-e0f2fcfb29c1 CLINVAR:216467 biolink:genetically_associated_with MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3eee8dc8-5630-407c-9a2a-62c5a9e9e630 CLINVAR:216467 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ea25385f-1721-41ff-b8ea-2fdc31638c14 CLINVAR:2757236 biolink:associated_with_increased_likelihood_of MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d5c34a3c-2564-4766-9ed0-f5907cce3be2 CLINVAR:2757236 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 128c570b-2563-4e54-bed1-74922766e5fa CLINVAR:528248 biolink:causes MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 535a8e9d-14ca-4449-b1f2-9e74eefe35ab CLINVAR:528248 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ba4f85d7-1439-4395-88f8-c2a1c9114fdf CLINVAR:246118 biolink:causes MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8341a57e-fbc4-4fc4-ad7d-4cb01439f977 CLINVAR:246118 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3ac546d5-7766-4c20-8117-c29ef68863ab CLINVAR:2697350 biolink:associated_with_increased_likelihood_of MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d30ae889-a0b1-4e81-9e2b-59678ef6765e CLINVAR:2697350 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cc0aba76-a776-4cb6-a124-07d6ce576d9a CAID:CA2497028965 biolink:associated_with_increased_likelihood_of MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f494027e-4b3c-41bc-bf93-e3a75032e0e9 CAID:CA2497028965 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d2457048-b6ea-454b-a67b-3c00e63ecbb9 CLINVAR:376630 biolink:causes MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 368612fb-58f5-4b1d-a389-59b5342cfb98 CLINVAR:376630 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3a293107-84ae-40fd-8893-e060f36be74a CLINVAR:10167 biolink:associated_with_increased_likelihood_of MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2fdcbc7b-8554-43f9-9479-cdf443a5e4a2 CLINVAR:10167 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 743b3201-aa75-4d14-8a02-451ef8270c30 CLINVAR:3338831 biolink:associated_with_increased_likelihood_of MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9bea6d02-e94a-46c7-84f3-6a62a47878ac CLINVAR:3338831 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 463305de-4bdc-43f8-9469-ff941f78dea7 CAID:CA414919991 biolink:associated_with_increased_likelihood_of MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9c01f1e4-3c0b-4a9f-95b6-73de4d9aec5d CAID:CA414919991 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 457493de-3d61-423f-9968-d43608204406 CLINVAR:3380944 biolink:genetically_associated_with MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fc513c5c-a61d-4ff6-a460-07abad3bcc3f CLINVAR:3380944 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7a17a6ce-8e48-4ced-b0f8-1b33d6bc50ef CLINVAR:1458768 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen cecd83c8-59c9-4255-9990-9352b02bbd75 CLINVAR:1458768 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ff14437d-a7e4-4462-8da1-326758ee725c CAID:CA355945475 biolink:genetically_associated_with MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 36b76424-93e4-4727-a1a9-cda06bead6b9 CAID:CA355945475 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c39c5b04-0acf-44d2-97cd-e7922e31898d CLINVAR:2432733 biolink:genetically_associated_with MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 588de3c4-8411-407f-86e2-f5649aa4ac06 CLINVAR:2432733 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4deeed50-90b4-4711-8d9e-2cec0b9bfbe2 CLINVAR:281005 biolink:genetically_associated_with MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen da10e542-f663-4dc3-965f-a13bb3060a8a CLINVAR:281005 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e52493be-0b94-4d68-8b7f-114289de89b5 CLINVAR:1068474 biolink:associated_with_increased_likelihood_of MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b6786470-e647-4780-a497-88fc45369a6a CLINVAR:1068474 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 62fd8104-744a-42c1-8f03-9ce2023a7f12 CLINVAR:1204494 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a3486a1b-8b44-4432-ae44-8145f424056a CLINVAR:1204494 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a734d45f-e273-48b9-9cf5-4def2ab058ce CAID:CA355962280 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 351b7255-e847-4bf6-baf8-0770a0c3d867 CAID:CA355962280 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a13e215d-edbd-4515-be5f-0e0b0d4e251f CAID:CA355962278 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9db679ca-152f-4f9b-b7b1-5954230faca0 CAID:CA355962278 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7d1cc443-5379-41a6-9aec-c506a5595c83 CLINVAR:198406 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c54a08c7-c917-4657-a1a0-9e1e29cb45a0 CLINVAR:198406 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 054378b6-9923-4911-9530-b81ec1ee7cbe CLINVAR:198696 biolink:associated_with_increased_likelihood_of MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9ead9771-9a67-4c80-8a2d-46cd2ba85856 CLINVAR:198696 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 08e86110-8150-4f16-a7d7-310b6b988a61 CLINVAR:565486 biolink:associated_with_increased_likelihood_of MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 07da87e3-9ce4-4694-8a79-0ab1d65ad230 CLINVAR:565486 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 06ad8bcc-9bfe-4531-bb96-dda91429f5f0 CLINVAR:580378 biolink:associated_with_increased_likelihood_of MONDO:0009595 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7df7842f-2f3a-49f8-b83c-5e9a9cc294e1 CLINVAR:580378 biolink:is_sequence_variant_of HGNC:10031 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3128ace9-3508-42bb-be8b-da8a53514199 CLINVAR:632970 biolink:associated_with_increased_likelihood_of MONDO:0009595 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 16ba1d2e-3fc0-4e21-91c6-9af2e5d848f4 CLINVAR:632970 biolink:is_sequence_variant_of HGNC:10031 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 219e1995-62d9-4236-9b11-3bf142eea2aa CLINVAR:633393 biolink:causes MONDO:0009595 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 932717e1-a023-4a02-a25e-69d9edf1a794 CLINVAR:633393 biolink:is_sequence_variant_of HGNC:10031 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 69ffd54c-926f-4425-9f7d-e737162e4316 CLINVAR:928882 biolink:associated_with_increased_likelihood_of MONDO:0009595 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 32272e46-0f36-4680-8605-6ddeb9a13297 CLINVAR:928882 biolink:is_sequence_variant_of HGNC:10031 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9edb4165-c14a-424f-b7f2-b554cb4fecb5 CLINVAR:379208 biolink:associated_with_increased_likelihood_of MONDO:0009595 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3e934e37-1d4c-4209-abc5-614d1926e5e7 CLINVAR:379208 biolink:is_sequence_variant_of HGNC:10031 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bb6fd773-2b8c-4d59-b197-815abbb404a5 CLINVAR:4475856 biolink:associated_with_increased_likelihood_of MONDO:0018947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e86306cb-d419-455b-900a-355edcc496d4 CLINVAR:4475856 biolink:is_sequence_variant_of HGNC:7448 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2a321651-f414-4598-87e5-7e4b3fd338dd CAID:CA415256306 biolink:associated_with_increased_likelihood_of MONDO:0018947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 05866075-efb2-4935-bef9-24c09e7c35bc CAID:CA415256306 biolink:is_sequence_variant_of HGNC:7448 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9324bbc6-af2d-456d-8b19-6ead84a4276b CLINVAR:281932 biolink:genetically_associated_with MONDO:0018947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen af71e74b-702c-43b2-bec9-4354884ce9c0 CLINVAR:281932 biolink:is_sequence_variant_of HGNC:7448 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ba448189-28a3-473f-8ff6-5280081c90ce CLINVAR:14221 biolink:causes MONDO:0009595 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen bd8e5103-5916-409f-8411-58db270dd545 CLINVAR:14221 biolink:is_sequence_variant_of HGNC:10031 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d9e59cd1-2a40-4385-9901-8ef5256e5850 CLINVAR:660541 biolink:associated_with_increased_likelihood_of MONDO:0009595 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen fe91b7cd-fc5d-45f6-b88c-00407630f6af CLINVAR:660541 biolink:is_sequence_variant_of HGNC:10031 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 92a25a2f-4122-4b78-9cce-a4d331e0dcce CAID:CA405671576 biolink:genetically_associated_with MONDO:0100150 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b5f64b21-bf22-4f4a-8a97-1ef31798a19b CAID:CA405671576 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0caf37a2-3825-4af6-886a-eafb90cc874f CLINVAR:487451 biolink:associated_with_increased_likelihood_of MONDO:0009595 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ecf17556-4a72-4ba8-98c3-160343ada0fc CLINVAR:487451 biolink:is_sequence_variant_of HGNC:10031 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 03de63b8-61b7-48a6-b3a8-6f6bd7a97fe0 CLINVAR:1072425 biolink:associated_with_increased_likelihood_of MONDO:0009595 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 48790af2-0871-44fa-abb6-22e553fcdddd CLINVAR:1072425 biolink:is_sequence_variant_of HGNC:10031 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f0334e61-58e2-4c43-a159-ba501cc07194 CLINVAR:982438 biolink:associated_with_increased_likelihood_of MONDO:0100150 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 334b76b3-dccf-473a-8e34-ed75a9403843 CLINVAR:982438 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 38677fe3-8695-4c99-a931-ec139163e7f5 CLINVAR:575986 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 64907f05-ba70-4fc9-8262-fe73cd651d3e CLINVAR:575986 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fe1a1bb0-c4e7-49c8-b277-6f9e8f4dca5c CLINVAR:133206 biolink:associated_with_increased_likelihood_of MONDO:0100150 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f263b350-87e0-4847-a2d3-b85a9657c609 CLINVAR:133206 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f3f40a59-31eb-4371-b1e0-185b05737ca2 CLINVAR:13534 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3cc29845-b3e8-4086-af4f-56d8719cb5f8 CLINVAR:13534 biolink:is_sequence_variant_of HGNC:4444 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4b6eea88-c759-4194-90a9-b707161456ac CAID:CA402997251 biolink:causes MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0936deb7-7a4d-441d-877b-9edf21622eef CAID:CA402997251 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen be360271-8575-4bf2-b53d-90fe5fb50d0b CLINVAR:801415 biolink:associated_with_increased_likelihood_of MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7d130806-8797-493b-98b0-585bd9b25830 CLINVAR:801415 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b047da18-659d-470d-9d0b-e2bf2ad1c93d CAID:CA402995747 biolink:causes MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 93061583-7c0d-4b5a-b83c-07963acc6452 CAID:CA402995747 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e3c4c1ae-f163-4440-97d3-460416bd5fa2 CAID:CA631044777 biolink:associated_with_increased_likelihood_of MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen aed1a475-80bc-4cd7-a6d5-3da85adc3da5 CAID:CA631044777 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1347bd79-a166-4141-ae60-ff89d54a830c CAID:CA402995509 biolink:associated_with_increased_likelihood_of MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f7818446-1e5b-4797-b8fa-c45c20983330 CAID:CA402995509 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 028ffc0c-c51c-45c4-8f5e-35d9c20dcf23 CLINVAR:2503890 biolink:associated_with_increased_likelihood_of MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f7cd544b-fb77-4f77-9e06-467cd62f24ea CLINVAR:2503890 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fef20bfe-8f38-4299-8de6-d77b674be4fb CLINVAR:1098275 biolink:genetically_associated_with MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7a61e561-2f24-4ee5-8a21-3c3b0634fc64 CLINVAR:1098275 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f4c02468-1c22-4f96-a188-4f7fc0a9ad69 CLINVAR:1098274 biolink:causes MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8ab52f7e-6978-4943-97af-f52b78889fa0 CLINVAR:1098274 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e7101b23-2d7a-4544-88c2-1f0654ca9c9a CAID:CA354447298 biolink:genetically_associated_with MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a20ce539-2619-4918-81bb-740d7a801957 CAID:CA354447298 biolink:is_sequence_variant_of HGNC:4444 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 90e4ee70-7658-47aa-a62c-acc478d4ad58 CAID:CA397313655 biolink:genetically_associated_with MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ecda063e-01a7-4220-969c-36cd5012459f CAID:CA397313655 biolink:is_sequence_variant_of HGNC:4439 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen de17bf15-0fa6-4eb9-82da-35969342c3d2 CAID:CA2573320224 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0a613339-fb69-460d-8592-2a0645300b00 CAID:CA2573320224 biolink:is_sequence_variant_of HGNC:4439 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 494b0f71-01d2-473a-a591-a1b4cfdac733 CAID:CA397315380 biolink:genetically_associated_with MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 60636a16-29e8-4c96-ae5d-ad1f49afca09 CAID:CA397315380 biolink:is_sequence_variant_of HGNC:4439 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 663792c1-8479-42c8-aaaf-77f231b5bab9 CLINVAR:3251816 biolink:genetically_associated_with MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 48fdb743-53e5-4eb5-a8f7-2827d03fbbe4 CLINVAR:3251816 biolink:is_sequence_variant_of HGNC:4439 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1cd49824-b17f-431b-a60c-6cb81c0fc542 CLINVAR:3582323 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b25acfbf-bd64-4c53-bda8-77d271e2fef7 CLINVAR:3582323 biolink:is_sequence_variant_of HGNC:4439 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1f62722b-5d25-416a-9384-f953ddcca1c9 CAID:CA397319681 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5ab531c3-5caf-42bb-89f9-53bb950acef2 CAID:CA397319681 biolink:is_sequence_variant_of HGNC:4439 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b76bf738-e3bb-4724-90f5-60adac14c754 CAID:CA658820740 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f5ffc0ec-6f21-4132-b04b-bc96507390fd CAID:CA658820740 biolink:is_sequence_variant_of HGNC:4439 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9718c861-5751-4842-abfa-72d10cf50097 CAID:CA397321949 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9f6d3765-3871-4881-9409-6877d2653e87 CAID:CA397321949 biolink:is_sequence_variant_of HGNC:4439 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fb86e705-4178-4528-925b-2b1f832dc83e CLINVAR:2736608 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ff973ff3-08ea-475d-ba98-1397e4e62614 CLINVAR:2736608 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4ab71362-6778-40f7-8a37-568a4d1ee0e2 CLINVAR:972760 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 433fa914-6d7f-4b46-b2f6-cfca654ae1ed CLINVAR:972760 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 69208cf6-e6f1-416f-a641-e048fb515833 CLINVAR:662598 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b32d8484-b204-4432-952f-2ffeb0877e32 CLINVAR:662598 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c9146fbc-918d-4e37-b130-65cac2a55ec5 CLINVAR:370998 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 52e012bf-ea55-4f10-b9fc-700e9bcb9ee9 CLINVAR:370998 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen be8d26ae-59b2-4bcb-ac2d-7db994c851a9 CAID:CA2602634 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 583118ec-a200-4c84-880d-bf794bf43918 CAID:CA2602634 biolink:is_sequence_variant_of HGNC:4444 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c4a766f7-9cba-4089-b75a-04d211f0a882 CLINVAR:13532 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 411e3819-d1bf-40e4-9211-8a80b77feb63 CLINVAR:13532 biolink:is_sequence_variant_of HGNC:4444 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0892a207-8b72-4b8d-a0b1-84b4143a614c CLINVAR:522924 biolink:genetically_associated_with MONDO:0100038 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8e19fb18-a6f3-415a-a683-2ea58c48499f CLINVAR:522924 biolink:is_sequence_variant_of HGNC:10588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 084f8f02-b376-4520-87fb-04738bad4561 CLINVAR:523396 biolink:genetically_associated_with MONDO:0100038 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 425ea999-c608-42ee-9258-2f160f0e7a20 CLINVAR:523396 biolink:is_sequence_variant_of HGNC:10588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 14ae2362-4ca8-4f15-90a1-10f04ba03fcb CLINVAR:624624 biolink:causes MONDO:0100038 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f11fa17b-a637-401c-803b-8a63464283cd CLINVAR:624624 biolink:is_sequence_variant_of HGNC:10596 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 276750c1-4f42-4ec4-b765-248d2aa2206a CLINVAR:691254 biolink:associated_with_increased_likelihood_of MONDO:0100038 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7d411e01-bc78-4942-9f8e-4d0520270900 CLINVAR:691254 biolink:is_sequence_variant_of HGNC:10596 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 72a5e8e9-fb61-48fe-8cff-3d85100e5cbd CLINVAR:373333 biolink:associated_with_increased_likelihood_of MONDO:0100038 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 43a823a0-47f3-47d6-8db1-3badfa99f711 CLINVAR:373333 biolink:is_sequence_variant_of HGNC:10596 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 080c3b61-a02a-42c6-b02a-8acdb662ee0a CLINVAR:489373 biolink:causes MONDO:0100038 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ac31a9b4-ea49-4010-9210-e860dcb29273 CLINVAR:489373 biolink:is_sequence_variant_of HGNC:10596 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4fafd868-3542-42ff-ae12-05d619d93836 CLINVAR:1049951 biolink:genetically_associated_with MONDO:0100062 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a0d148be-a0cb-4688-8f4a-1ea4df232180 CLINVAR:1049951 biolink:is_sequence_variant_of HGNC:10590 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 44e8a473-7fc7-46cc-84e8-f88b1c217ab3 CLINVAR:536549 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen db3f30f7-983b-4f59-a9b6-65bb1addef28 CLINVAR:536549 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2c9af7af-559f-42e5-a4c6-24c4bbdacfa1 CLINVAR:1043063 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0ed45477-119f-4153-8de3-82251bd5a90c CLINVAR:1043063 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ca97cd5e-41e0-4140-a5ac-43290f3d5188 CLINVAR:495806 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 700d93f9-b195-4117-ae24-c88ec7d1f72f CLINVAR:495806 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dde3ccb5-e9a9-4b0d-9cc0-b3eeda776ea7 CLINVAR:580948 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4ff54a57-0962-4336-9a8b-417537e059e7 CLINVAR:580948 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c727d7ec-bc82-407a-a70b-dd607a1b9883 CLINVAR:694617 biolink:causes MONDO:0100062 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen cf3440db-1eeb-4c94-b5c2-a30e57ebc560 CLINVAR:694617 biolink:is_sequence_variant_of HGNC:10586 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7f20142f-7cdf-453b-b2dd-a3b2c22137de CLINVAR:1527893 biolink:genetically_associated_with MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7d89e744-7bee-4472-893f-bae981e35c7e CLINVAR:1527893 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cca70982-d817-4c33-942c-4a6ffc8748b9 CLINVAR:810877 biolink:genetically_associated_with MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 14834ce5-f151-4e36-9524-219485bd4ba7 CLINVAR:810877 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9b0b6643-c0b6-4474-a712-220b6278606d CLINVAR:942974 biolink:genetically_associated_with MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6c2e0570-8db0-437b-b54c-a2b6f006167d CLINVAR:942974 biolink:is_sequence_variant_of HGNC:12601 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6df22ab6-421b-46e7-ba19-61de1b1aa4df CLINVAR:1036903 biolink:genetically_associated_with MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5c83adff-1824-4232-99a4-7dc03b6775a0 CLINVAR:1036903 biolink:is_sequence_variant_of HGNC:13733 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f73eae19-6263-49ab-93ba-4a7d56fe3ce2 CLINVAR:99375 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 93a04371-b631-4471-96f2-05389eee8f3c CLINVAR:99375 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9cea9e50-ff83-40eb-aca7-1d6542f4b246 CAID:CA341276980 biolink:associated_with_increased_likelihood_of MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 38ce5d38-c157-499e-af8d-9cb023dedb27 CAID:CA341276980 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 41375a1d-3377-41ef-80ff-aa6949fb0146 CLINVAR:99450 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f227152b-ceff-470d-9bf8-b35ab06d2407 CLINVAR:99450 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e07cd263-7182-44c3-8c5c-8128148dc955 CLINVAR:236109 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 624bba88-f4ab-4844-9d43-9feac7982d17 CLINVAR:236109 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 09a1d198-8e82-4dec-95ec-c20df083264f CLINVAR:228954 biolink:associated_with_increased_likelihood_of MONDO:0010860 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 64f061a8-836f-4d2f-ae1d-30b4048698e8 CLINVAR:228954 biolink:is_sequence_variant_of HGNC:7594 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 951bd718-55fc-49bc-aeaf-b2551974857c CLINVAR:99087 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3f2c6de0-6a4d-4493-9d58-f88f04ccc514 CLINVAR:99087 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 14a32242-60bc-4eb4-97eb-280489fe7ded CLINVAR:7898 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 819145de-1271-4933-9887-53fe51895d5c CLINVAR:7898 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aef81d58-73b9-4d79-8477-d20f2283d6e4 CAID:CA031062 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ddc8c31a-cf2b-49c9-b032-8eede882e4e7 CAID:CA031062 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 75df0131-f0e4-434d-a212-f7f298a91fc3 CLINVAR:236113 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 55368821-e872-4fbb-b0b4-4e6b5b87c195 CLINVAR:236113 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c8476380-9ce2-4e4a-a7fe-213053f002e8 CLINVAR:836905 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f2cacbfb-43c7-4fdb-b79b-d6005c67da44 CLINVAR:836905 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d90c6253-2ac1-44ca-8941-2bcc00af65fe CLINVAR:99084 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 756867b4-22b2-438e-ad4a-39212ff1bb3a CLINVAR:99084 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 355a94ab-c55e-42dd-934d-38c26c95f607 CLINVAR:871507 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d88727e0-574a-4f43-9971-40af25b957b5 CLINVAR:871507 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 065ee508-277e-4b9d-a554-f35463597af3 CLINVAR:99224 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b3c911dd-1cff-469a-abfb-ef04ace4bcc5 CLINVAR:99224 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 258a688a-83a5-42a6-935c-a22f58956744 CLINVAR:7904 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9496067b-e531-4029-bbcd-53616173b7f1 CLINVAR:7904 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c3402f9c-c6f0-4c89-a95c-cc9eca204ae9 CLINVAR:438100 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2bc1512e-21d8-4163-8b7a-b29e15826290 CLINVAR:438100 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8633583f-dbce-490b-9812-771627ad68e3 CLINVAR:7879 biolink:genetically_associated_with MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d5c7dc09-5bf6-49cc-800f-bb15dd56c830 CLINVAR:7879 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b45c5706-c434-4175-808a-5d6ced5852f1 CLINVAR:143076 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen af359386-4359-4e5a-a087-f5b476f743ac CLINVAR:143076 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aa267a25-95bf-4cb2-99cf-4b5b9a00a289 CLINVAR:99303 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen fe70117d-5870-469f-94ee-f6fa225ddfff CLINVAR:99303 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d3bada90-7812-446c-aaf0-107e6f0d5afd CLINVAR:2585325 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1716e59f-b68a-496f-88f8-a923ca2db934 CLINVAR:2585325 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2fbc960d-a584-4dd9-bd4c-093acd283810 CLINVAR:1454986 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d3677e5e-5ea8-4e00-b64a-c2fda71c0afb CLINVAR:1454986 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 33cd550b-843c-4970-87ef-24be48669ab7 CLINVAR:236516 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2a3ab294-7365-45c2-88d3-f11835186eb2 CLINVAR:236516 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7fb813ed-2f87-405b-973c-25f8191f8238 CLINVAR:1440605 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5a1a8e64-6100-49c0-b9b9-f8bcc0814aec CLINVAR:1440605 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 14eb7d25-f8e0-4594-b241-18439c0d3a83 CLINVAR:812202 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e7458d87-c036-441a-9f20-b885ce9deb16 CLINVAR:812202 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 44a361ee-3dfc-44f4-95ed-f99af33fb54d CLINVAR:236122 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c662fda4-07be-4a0b-b540-97eba6851ae2 CLINVAR:236122 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ccc8c0bd-b76c-45c3-b8e8-e769299c69d1 CLINVAR:866242 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7ae6364c-e7f8-41b1-9855-8ed831f5efe4 CLINVAR:866242 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 413932b7-c7b1-4fe2-a1a6-854293d0c933 CAID:CA341283237 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 45589da0-eceb-475e-8710-8c872360312e CAID:CA341283237 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 139913e5-0f66-4b5e-b0d8-b33174111c52 CLINVAR:1196428 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 88f34130-312f-469c-8136-0b6b7b02c3b0 CLINVAR:1196428 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b0a32e10-7632-41f9-ae7a-e4f9fec7b42a CLINVAR:99359 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f104f0cb-ad1b-412c-aa24-33f6e7f987c1 CLINVAR:99359 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3222f986-5ab7-495b-bf67-253d65032987 CAID:CA2586966736 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ac8db915-711c-4dcf-8fcd-312001a14627 CAID:CA2586966736 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6b6973eb-9281-4147-9548-d6fedf079fd1 CLINVAR:822002 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b0aaecf4-00ae-4a2d-97e7-9d542a76313c CLINVAR:822002 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bc2e04e7-457c-48f6-aaed-0cdec7887dd1 CLINVAR:99135 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen cb24f434-e0c4-42ee-8eaa-744fb5ba23b9 CLINVAR:99135 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fba963b7-671e-4247-8755-6a1cec5f3068 CLINVAR:99455 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8ebbaec1-d90e-4ea2-b490-98233708cc71 CLINVAR:99455 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0230a4f4-8131-497b-b88a-18856e08c167 CAID:CA8365610 biolink:genetically_associated_with MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b0e0906e-a73c-41bd-a486-20544ae66c93 CAID:CA8365610 biolink:is_sequence_variant_of HGNC:4689 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8ddd9d30-f8ed-42c5-b92c-76ff155100b7 CLINVAR:1372740 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b0f5ddcc-05f5-4302-9147-8c79746cac69 CLINVAR:1372740 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 183bac3b-4baa-460c-9a64-412c3315b7ea CAID:CA3249353685 biolink:causes MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 44a1c998-a606-4fa6-b768-b06f32aeef38 CAID:CA3249353685 biolink:is_sequence_variant_of HGNC:4689 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 75928eaa-3570-43e7-8db4-a3dd6538cfe2 CLINVAR:2733942 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3e1971d6-9ca4-4685-a12a-3e36d225566a CLINVAR:2733942 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4da70660-44ab-4044-ab86-74eb9c1ba0c7 CLINVAR:99458 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2d599ec7-b3cd-47b4-983f-23862bf2ecaf CLINVAR:99458 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen db74392b-ecd6-422d-a7d5-a9b8e150f70b CAID:CA397955377 biolink:associated_with_increased_likelihood_of MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 854f5d4c-ca54-4efc-96f8-43b405630c8b CAID:CA397955377 biolink:is_sequence_variant_of HGNC:4689 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 53a0bf4d-c87d-4a70-9738-2dbd635b31da CAID:CA397946280 biolink:genetically_associated_with MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2f96f1b5-4d25-44e2-88cb-31fcd577a4c5 CAID:CA397946280 biolink:is_sequence_variant_of HGNC:4689 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fba6e0fc-47b1-48cf-8076-cf580b0417dc CLINVAR:298222 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e265e1ca-0674-44a9-9da3-85172e7dfc57 CLINVAR:298222 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7d735212-5efb-41b3-b119-ac7cc7b5254b CLINVAR:99249 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c914e8df-0d1e-4433-959c-52f504258ea4 CLINVAR:99249 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 98d57e25-145f-4a04-96d9-a5240cd72cb8 CLINVAR:498001 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen cfdf831c-99ef-4d70-8e08-d8f08825b0b5 CLINVAR:498001 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 29929378-4379-4495-96c1-dea8e0531615 CLINVAR:99338 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1d276e2d-aade-40b2-9d9b-974734f96c5a CLINVAR:99338 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e0b24157-24d8-4e2c-9001-b81f437e3fdd CLINVAR:2678438 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 866137ea-1ebd-4c29-a5ed-5809ed3334cc CLINVAR:2678438 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4b651074-8e2e-4f76-8081-fa5ef531555e CLINVAR:3381789 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4501e26b-7c9f-4d7f-8337-2a931e1a6321 CLINVAR:3381789 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2bcb2a56-7ec9-4e7c-b8fe-9298768ed57c CLINVAR:973960 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2117404d-d13d-413e-90bf-f2f2b854230c CLINVAR:973960 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a6ee668b-a659-4af0-9d0c-9f463cf84905 CAID:CA409110477 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5a67b33a-6279-4d72-827a-c3612b64238e CAID:CA409110477 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d990219b-7400-4b6e-8d03-dc909dc11952 CLINVAR:1338955 biolink:genetically_associated_with MONDO:0010880 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ec85552f-001c-48fe-b502-cde9827a13c6 CLINVAR:1338955 biolink:is_sequence_variant_of HGNC:175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen de6e24f9-20af-4f15-b1f5-9fc0a7e1839f CLINVAR:98861 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen edb4977f-103e-4236-884f-d602ce3ae8e2 CLINVAR:98861 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c162cfe6-8c85-4639-bfbe-55dee60b552f CLINVAR:99104 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1cc14d80-e574-4907-876f-8d3d31a517b2 CLINVAR:99104 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen da517ea1-5f81-4393-b46d-d0eac801c08b CLINVAR:812208 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ccede998-6e68-4237-8371-d0e28ab607fb CLINVAR:812208 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9b204637-e61c-48d9-ada4-8ba7f0c459d6 CAID:CA341280330 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 058c90aa-dc41-4d83-b77b-bdc69657f74d CAID:CA341280330 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4dd6855a-f5db-40c5-9825-5ef9c53e8b31 CAID:CA645372187 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2b94972f-875b-44c5-8b3c-435719f37a3e CAID:CA645372187 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7b46d8f2-53cd-4036-b0c4-2aa9c7ba71a0 CAID:CA341275107 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 83bb44f0-aa0e-4504-b14e-208a7ee0d3e6 CAID:CA341275107 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f14dc951-fdc3-4755-b327-aebe93ca28be CLINVAR:7900 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5d4e933c-6a42-4436-8d4e-0783c1b59f5a CLINVAR:7900 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f37eef8e-2a5a-4e9d-b9f5-3ad6308e3ff8 CLINVAR:99217 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b4b3ec98-fd48-4b58-8c8b-1b7a0019fc5c CLINVAR:99217 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0109d5d1-52e6-4db0-8603-08f445e08282 CLINVAR:7905 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c24eaa86-ef5f-46f7-9d65-ffff2cc5dfcf CLINVAR:7905 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c354740b-3f9a-43a0-9530-f101975bdd49 CLINVAR:99073 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 747565ce-b4c2-4f57-b0c3-dd5ce93d7b1d CLINVAR:99073 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 40f3f599-0903-49e7-873f-4883e9ac0f6b CLINVAR:99337 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ab7fbff4-fb74-49b2-b693-997c0f6fcd2e CLINVAR:99337 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8d163fbd-9dad-4879-bd1e-2464be41c874 CLINVAR:372290 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f63e059c-9643-46e6-8d5c-11af16ac9835 CLINVAR:372290 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 56e31f1a-618b-41ad-a748-39293cab84ee CLINVAR:99113 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c5da784d-0128-4251-af04-86f0c50e6e57 CLINVAR:99113 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b3058d6f-1bb9-464f-b180-fd27974c2fd5 CLINVAR:2733921 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0f762264-bca1-4b2a-8a4a-8df4451505ce CLINVAR:2733921 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e75ebdfa-f669-41a9-946b-dbe3c4f7f6da CLINVAR:280328 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b7209cc6-860a-4fb8-909a-875c6ca20737 CLINVAR:280328 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aa5ca16f-c159-4182-84b6-583055e94023 CLINVAR:99305 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 836f6f01-c544-44a7-9886-82590520e0fc CLINVAR:99305 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ef43c711-a443-4310-a18c-9fb55acd4dd1 CLINVAR:156596 biolink:causes MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5e63bfc3-7c95-4dc8-978f-6a173ca844a0 CLINVAR:156596 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 16d48d09-8de4-4791-87ed-55db175dc53b CLINVAR:2419189 biolink:associated_with_increased_likelihood_of MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen fc008c61-aeac-45cd-8c94-82e66f8dd267 CLINVAR:2419189 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b9ff6cd4-52b9-43b8-a30c-53999c8f27ff CLINVAR:1879751 biolink:associated_with_increased_likelihood_of MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8499afb8-961b-47bc-9f0c-1c35173d5d54 CLINVAR:1879751 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c45535aa-d687-474e-8007-403e72f384e6 CLINVAR:2925658 biolink:genetically_associated_with MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ddc8df20-ed0c-4ee6-a27c-dfcbd2fd67d9 CLINVAR:2925658 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a6558b5e-afc8-4046-9d98-9a46919a24f5 CLINVAR:1700183 biolink:genetically_associated_with MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 279cd25c-64c9-4dc0-8ae3-48d311358d6d CLINVAR:1700183 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a8d1fa41-524d-40b5-a0fd-81fa242c6350 CLINVAR:99300 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 76edc4f4-2bc0-49b9-a0f0-539e6c9ca274 CLINVAR:99300 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eae9668c-4100-40bb-a572-f1df12e23e53 CLINVAR:2733935 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a9e6c118-97e9-4fe0-956c-73ec3d39b4a6 CLINVAR:2733935 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fd2466c6-4832-4c47-9739-b99c70fb02cc CAID:CA341290648 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3d4f4bd5-3c04-46b1-be71-6f2c6f534a02 CAID:CA341290648 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a5c07845-a5ea-4bc9-91b0-5d672eef919e CLINVAR:99283 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ac9de951-6967-4c36-b07e-8b9c3cc8a918 CLINVAR:99283 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 41c8e79b-a9a5-40b8-a2d0-09539f7ae103 CLINVAR:99110 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2d6ae8fa-6001-4f14-91c0-d7cb7a342f00 CLINVAR:99110 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f4f92576-63e0-40af-9c0a-605ce5089be3 CAID:CA645372205 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6746a376-5bb6-420a-8320-02021939fe2b CAID:CA645372205 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a63c3fc7-fb67-4c9e-b02c-8a62e4794b06 CLINVAR:1460063 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 51efb616-a0f5-4d3a-ad35-df0eed17b947 CLINVAR:1460063 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bd7d98d4-c7bf-4308-ac8c-df6cacf97ecb CLINVAR:99460 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1d5d1734-3763-4350-b30f-fe01d0934572 CLINVAR:99460 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1a58b997-abb6-42fc-9a73-9a6e5b5349f5 CLINVAR:618103 biolink:genetically_associated_with MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d0cabc18-d0fd-4f4f-a390-b424568d73c3 CLINVAR:618103 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a4472d1d-5bb1-403b-9074-4e07bed104ef CLINVAR:1403996 biolink:genetically_associated_with MONDO:0010278 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d3f0b349-2a8d-4b44-9841-c27a575e4950 CLINVAR:1403996 biolink:is_sequence_variant_of HGNC:11079 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ff43376e-33ca-46fe-9667-bde7d8fcdd5f CLINVAR:2534434 biolink:genetically_associated_with MONDO:0014222 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4a53ca58-49d2-4590-9417-b8c9cbd0cc0a CLINVAR:2534434 biolink:is_sequence_variant_of HGNC:8977 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 86a7b236-375a-4e2b-946a-9481fd6a90aa CLINVAR:132808 biolink:associated_with_increased_likelihood_of MONDO:0014222 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4c0494e4-b3ff-4e3d-9f6e-8fe27b516b23 CLINVAR:132808 biolink:is_sequence_variant_of HGNC:8977 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f411a2c7-9d42-42e6-8d81-82ec83acf9aa CLINVAR:582515 biolink:associated_with_increased_likelihood_of MONDO:0014222 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ec08f399-629c-48ea-96d0-960c2b4e65da CLINVAR:582515 biolink:is_sequence_variant_of HGNC:8977 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d88abf0c-9bb3-4b02-9cf0-aa7c5e0692a9 CAID:CA338303812 biolink:associated_with_increased_likelihood_of MONDO:0014222 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen de8be4c8-a78c-4823-ac56-9b0ec96b92b9 CAID:CA338303812 biolink:is_sequence_variant_of HGNC:8977 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a12e02fb-fdee-47f9-b852-037b7c3b6751 CLINVAR:132807 biolink:causes MONDO:0014222 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2e7fb83c-566b-499e-86f6-9f68fe3fe65e CLINVAR:132807 biolink:is_sequence_variant_of HGNC:8977 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b7481141-23fe-44bb-9173-504ace2da1a3 CAID:CA338300169 biolink:associated_with_increased_likelihood_of MONDO:0014222 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 70445d3e-2a79-496b-b087-f391ca5f4a9f CAID:CA338300169 biolink:is_sequence_variant_of HGNC:8977 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 55e7277f-c5bf-44ff-8c1f-b20d6371a81d CLINVAR:1457684 biolink:associated_with_increased_likelihood_of MONDO:0014222 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 78390f91-ce11-433b-8cea-9171beacbd93 CLINVAR:1457684 biolink:is_sequence_variant_of HGNC:8977 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8cb1dd4e-3a9a-45aa-adab-426c52aa3d9f CLINVAR:1406866 biolink:associated_with_increased_likelihood_of MONDO:0014222 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5cd6c4d0-d9d9-4089-9e9c-deed33750c10 CLINVAR:1406866 biolink:is_sequence_variant_of HGNC:8977 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e41b173f-5725-4f37-ae51-32a7b8e2d915 CLINVAR:132806 biolink:associated_with_increased_likelihood_of MONDO:0014222 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5563330d-be57-4366-a4cd-be5b87bed3f1 CLINVAR:132806 biolink:is_sequence_variant_of HGNC:8977 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2d9a0122-3c80-4951-b291-f2bc201868df CLINVAR:578525 biolink:associated_with_increased_likelihood_of MONDO:0014222 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen bc618655-b066-42ca-a596-99673a16a39c CLINVAR:578525 biolink:is_sequence_variant_of HGNC:8977 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ef4bd13d-c1e0-40e8-aeec-53dff85b844e CLINVAR:871047 biolink:genetically_associated_with MONDO:0014222 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b1804675-7e67-47c4-8f53-c498e8dc40b9 CLINVAR:871047 biolink:is_sequence_variant_of HGNC:8977 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f8ea4a16-dfed-4dd2-af93-ab122b9e370f CLINVAR:1051935 biolink:genetically_associated_with MONDO:0014222 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen dd885ded-346b-4b52-9312-89915a6a6244 CLINVAR:1051935 biolink:is_sequence_variant_of HGNC:8977 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e4f0bb47-57d9-4f89-beaa-f2ab46963628 CLINVAR:88675 biolink:causes MONDO:0014222 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 16ae0588-94d7-4047-b8c9-4382389c7887 CLINVAR:88675 biolink:is_sequence_variant_of HGNC:8977 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8cc5d6c4-703b-43a2-b0ef-6ddfa53af450 CLINVAR:422410 biolink:causes MONDO:0014222 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 94eb1f39-25ee-4135-97c1-ad2a4cbc908c CLINVAR:422410 biolink:is_sequence_variant_of HGNC:8977 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 313c704c-1903-4a49-8b8e-897f34030ce8 CLINVAR:2733822 biolink:associated_with_increased_likelihood_of MONDO:0014222 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1fb697fd-38bc-489b-92dc-1e5e1bfb93a6 CLINVAR:2733822 biolink:is_sequence_variant_of HGNC:8977 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f494ea95-2b9e-4e51-b9fd-a0920430d0f0 CLINVAR:2703020 biolink:genetically_associated_with MONDO:0014222 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 510cc30e-92c3-478b-8d3d-2060c7b6aed6 CLINVAR:2703020 biolink:is_sequence_variant_of HGNC:8977 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen db974321-13b5-4947-a9ae-2d49a3607d0b CLINVAR:2106910 biolink:genetically_associated_with MONDO:0014222 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c624b338-2cea-4007-acbf-7f788825d47d CLINVAR:2106910 biolink:is_sequence_variant_of HGNC:8977 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cb85e89f-632d-461a-bfbb-240a6cca2bae CLINVAR:1409092 biolink:genetically_associated_with MONDO:0014222 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 28e5427e-d84e-4693-96b1-fb80f3de8d2d CLINVAR:1409092 biolink:is_sequence_variant_of HGNC:8977 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8ff2e3c3-1fea-48f5-be11-23c53c994696 CLINVAR:806050 biolink:genetically_associated_with MONDO:0014222 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fc59bef8-7a24-49e7-93c6-8eeba1641435 CLINVAR:806050 biolink:is_sequence_variant_of HGNC:8977 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ed400fbe-58a8-487a-81dc-887d92448220 CLINVAR:1331658 biolink:genetically_associated_with MONDO:0014222 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d8f2d547-1fe0-498b-b741-6f383dda6dbb CLINVAR:1331658 biolink:is_sequence_variant_of HGNC:8977 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fa387f0b-0156-4c2b-9a8f-bdddb6153d6a CLINVAR:636715 biolink:genetically_associated_with MONDO:0014222 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c9b7cace-200f-4eed-944d-47370f0ddd03 CLINVAR:636715 biolink:is_sequence_variant_of HGNC:8977 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bcab59d3-557a-4ca0-a462-b8ce4bedef99 CLINVAR:1510460 biolink:genetically_associated_with MONDO:0014222 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a00243fe-f75e-4db9-9ea8-25b7bded36ca CLINVAR:1510460 biolink:is_sequence_variant_of HGNC:8977 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2a3ae322-8deb-41f1-9ac1-496fa5901f13 CLINVAR:935418 biolink:genetically_associated_with MONDO:0014222 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 217e0394-aec4-4e08-8e86-6950bdeda5bc CLINVAR:935418 biolink:is_sequence_variant_of HGNC:8977 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 78e216db-885b-4187-b21a-ff1841f6f0bb CLINVAR:1338106 biolink:genetically_associated_with MONDO:0014222 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d8a0acd1-ddb8-4c61-9399-d253ba3e381b CLINVAR:1338106 biolink:is_sequence_variant_of HGNC:8977 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 250c1a81-0b4f-4899-a0ca-2d595a7121b5 CLINVAR:636973 biolink:genetically_associated_with MONDO:0014222 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 41b1ed06-c8e7-4a35-b2ab-da17e9b055ec CLINVAR:636973 biolink:is_sequence_variant_of HGNC:8977 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 590f1a8d-e8b7-4eb0-800b-8caf62fd1ac5 CLINVAR:1351534 biolink:genetically_associated_with MONDO:0014222 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7989d330-cd4e-46b5-8994-4d00d1cb81db CLINVAR:1351534 biolink:is_sequence_variant_of HGNC:8977 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 706ca90c-eeff-4ae6-bb72-7495f1dd9bf8 CAID:CA338300357 biolink:genetically_associated_with MONDO:0014222 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 86184be5-cca5-4a51-84ab-7579144dbfe0 CAID:CA338300357 biolink:is_sequence_variant_of HGNC:8977 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9fd6a120-33f1-4957-b343-b314fbf54cdf CLINVAR:2580095 biolink:genetically_associated_with MONDO:0014222 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8ccdd21e-ca19-4d10-9020-7bbb0c1fa3c3 CLINVAR:2580095 biolink:is_sequence_variant_of HGNC:8977 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 56d5e3d3-4c6b-41c5-bb9d-46ec27ef4615 CLINVAR:2414651 biolink:genetically_associated_with MONDO:0014222 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2e31262f-c0fb-4c59-a6b9-af3d62207c59 CLINVAR:2414651 biolink:is_sequence_variant_of HGNC:8977 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 59b6847d-b999-4043-94cc-1c5df243ce94 CLINVAR:942111 biolink:genetically_associated_with MONDO:0014222 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0de78ed7-697c-49b8-8fc6-93c4d1c62b94 CLINVAR:942111 biolink:is_sequence_variant_of HGNC:8977 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b54830de-bf7a-4827-94b2-b543ca8dffd0 CLINVAR:1381345 biolink:associated_with_increased_likelihood_of MONDO:0010880 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 811b91d9-9ef0-4cf0-8590-c7887d2fc392 CLINVAR:1381345 biolink:is_sequence_variant_of HGNC:175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ad9a0539-205a-4e32-9c74-823092605ed1 CLINVAR:411299 biolink:associated_with_increased_likelihood_of MONDO:0010880 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 420ecb5f-de5b-4f78-a3f0-9ebb951368c2 CLINVAR:411299 biolink:is_sequence_variant_of HGNC:175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 95004c0d-f5fd-4c8d-90fe-2d990bd4c28d CLINVAR:426011 biolink:associated_with_increased_likelihood_of MONDO:0010880 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 95524d35-d3e2-46c3-ba4d-9bdcd4e4982c CLINVAR:426011 biolink:is_sequence_variant_of HGNC:175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b45a2d3b-b0d5-4b3a-8af0-c41a6c7987c3 CLINVAR:11917 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e00ed3e0-0f2c-4067-a719-1d7541071845 CLINVAR:11917 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 85826026-7ba0-45b5-b1f5-faf84b7bb031 CLINVAR:553227 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen fbe34f6d-909b-40c6-bbde-c84a4793836c CLINVAR:553227 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen af2e9980-63f8-4735-93c9-fd5018f996dc CLINVAR:1451219 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f74b470d-1abe-431e-9d70-0c0e7302f396 CLINVAR:1451219 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e6d2e660-cdda-48e7-ba4d-c9792a225cdc CLINVAR:554826 biolink:associated_with_increased_likelihood_of MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 81e0a0b8-618c-45a0-8e4c-aecc6e5afb77 CLINVAR:554826 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6455df82-e9b4-4815-8b82-a1a4d42eddb7 CAID:CA355962890 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 75f7a637-928c-4884-80e5-56cde83cab01 CAID:CA355962890 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fc01296c-4091-4873-bf66-d5eaa3afdc68 CLINVAR:558027 biolink:genetically_associated_with MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e9d7a85d-e6f9-459d-a19d-7e4b8890d6a3 CLINVAR:558027 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 35f2557d-3d85-4ce0-89b0-f3b1ffdd5616 CAID:CA355962113 biolink:genetically_associated_with MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 23e75f77-91a0-474a-a31a-826b2bf859bd CAID:CA355962113 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3176d1fb-674d-4e19-a7aa-7d24058d175f CLINVAR:2058952 biolink:genetically_associated_with MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f14f54da-5af2-4332-a1c3-2a3774b42b4f CLINVAR:2058952 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 37619c5f-828c-4412-acba-bc2ab9a8a4a1 CAID:CA355965300 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9f6aee64-f834-4365-b5dd-23f2a7d94a78 CAID:CA355965300 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c284ccef-7db6-46fc-91f6-7595c4c6acda CLINVAR:1067236 biolink:genetically_associated_with MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f8233d23-394f-4358-8bf5-5fd78d8be494 CLINVAR:1067236 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 43dff6fa-7dc6-4ce1-9afc-8b4967d77e4a CAID:CA355963308 biolink:genetically_associated_with MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 05b9c173-cb9c-4b02-9b85-73b284c0b6fe CAID:CA355963308 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 12918d84-0c0a-44bb-bd30-5a673ab04a08 CAID:CA355965312 biolink:genetically_associated_with MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e4488fdd-4cd3-4aa0-8a45-7a5da78d0a18 CAID:CA355965312 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9d935399-2baa-40e5-85ce-511bc693348a CAID:CA355962740 biolink:associated_with_increased_likelihood_of MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 40b5cfde-0b31-4148-b466-901d6a4a2416 CAID:CA355962740 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d18dec65-d2fe-4aa2-b15b-e34011e42eec CLINVAR:2432770 biolink:genetically_associated_with MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e80c1b1e-ee80-4200-a6b6-54c3a2da7e7f CLINVAR:2432770 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d51b9c73-db48-4ab4-908e-e5c705482811 CLINVAR:222995 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 31eeeb97-fbe8-4b57-970e-566b8bdfa264 CLINVAR:222995 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ab4dc31c-5064-4a41-9ac5-7a432e747f3f CLINVAR:92634 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6d7d0c1b-f49a-4624-9e96-bdbc88febdfe CLINVAR:92634 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eb06e692-7520-4165-af07-41fcfece53d7 CLINVAR:554670 biolink:associated_with_increased_likelihood_of MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 796cd22d-a515-4cc8-b7b4-4d9a6086d906 CLINVAR:554670 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3b865fa2-a3da-4dd7-aa45-7125e7816b00 CLINVAR:2825913 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9998bca3-e99d-454e-85c4-dec78232fc9c CLINVAR:2825913 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a8c65e53-3116-4821-9f48-ad13964f625f CAID:CA355961706 biolink:associated_with_increased_likelihood_of MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c222c14b-c3b1-4ac5-995a-62564989dc32 CAID:CA355961706 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 584111db-abc1-411e-bbbb-36cad18731b0 CLINVAR:2585078 biolink:associated_with_increased_likelihood_of MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ff348fb3-ac82-430b-a2b2-3e66b9b3e687 CLINVAR:2585078 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8d4a1cac-4b12-4bdd-b361-1cfac81260fe CLINVAR:1064675 biolink:associated_with_increased_likelihood_of MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4b70d95d-60eb-4ec9-8d7f-9ffbf13a84a0 CLINVAR:1064675 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1eb7fbc8-fe36-4c65-a526-e821f7018b25 CLINVAR:1742308 biolink:genetically_associated_with MONDO:0010880 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1a48c8a1-a207-4f6d-a885-a50610510800 CLINVAR:1742308 biolink:is_sequence_variant_of HGNC:175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 95821aa0-deb9-4660-9241-313146e32923 CLINVAR:573410 biolink:associated_with_increased_likelihood_of MONDO:0010880 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9c8bdd80-369c-4b13-bcbc-2e4a544910e4 CLINVAR:573410 biolink:is_sequence_variant_of HGNC:175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f4b64e5f-222e-4116-801a-297a4eab2848 CLINVAR:52823 biolink:associated_with_increased_likelihood_of MONDO:0700269 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 98238a34-ea3d-4d06-b66d-42d1a75886b6 CLINVAR:52823 biolink:is_sequence_variant_of HGNC:1101 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e3aab41f-c795-4ce2-8813-7cde8601a81a CLINVAR:462524 biolink:genetically_associated_with MONDO:0700269 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a4d5fb81-c620-4a36-84da-b9d6ce9ceb76 CLINVAR:462524 biolink:is_sequence_variant_of HGNC:1101 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 840e93f1-5c03-40f8-a5de-36270e296ec1 CLINVAR:38202 biolink:causes MONDO:0700269 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen bcad76c2-eb23-41bf-a18e-46ae99ac4de2 CLINVAR:38202 biolink:is_sequence_variant_of HGNC:1101 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e18a47c4-780f-487b-a9e6-55ee51758500 CLINVAR:481525 biolink:associated_with_increased_likelihood_of MONDO:0700269 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen bca8982f-b33d-49a9-aa67-ad976b516b48 CLINVAR:481525 biolink:is_sequence_variant_of HGNC:1101 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f4b68b1e-a1a1-4efb-81f2-20ff360c7763 CLINVAR:409429 biolink:genetically_associated_with MONDO:0700269 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a547169c-9ae2-4aa8-8b0c-d3fb1d2745f5 CLINVAR:409429 biolink:is_sequence_variant_of HGNC:1101 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 346922c0-c5c4-4dd6-ae2b-cec7cd37a1da CLINVAR:126168 biolink:associated_with_increased_likelihood_of MONDO:0700269 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4bbf4430-a8e3-466f-a9f7-cf95cf935df9 CLINVAR:126168 biolink:is_sequence_variant_of HGNC:1101 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen de56f324-0bb2-4445-b921-e16ef2534942 CLINVAR:545487 biolink:associated_with_increased_likelihood_of MONDO:0700269 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c76c4c4b-85b0-4749-992e-fb69dc9cc236 CLINVAR:545487 biolink:is_sequence_variant_of HGNC:1101 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ea31afee-91f1-441d-91c6-4dde535a7048 CLINVAR:52513 biolink:associated_with_increased_likelihood_of MONDO:0700269 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen bdc2c57a-84e0-4cb7-8a8a-91432c3125ad CLINVAR:52513 biolink:is_sequence_variant_of HGNC:1101 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2032af12-fa91-4e21-af97-60e9c186b45f CLINVAR:96860 biolink:genetically_associated_with MONDO:0700269 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c329d5b4-566d-43f9-ac51-3482021bacc5 CLINVAR:96860 biolink:is_sequence_variant_of HGNC:1101 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ad54030c-d4de-4d25-b7dd-53f021a50543 CLINVAR:142784 biolink:associated_with_increased_likelihood_of MONDO:0700269 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 180a7067-bed2-4d2c-870e-f68d849ce588 CLINVAR:142784 biolink:is_sequence_variant_of HGNC:1101 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen be2004f9-fa29-44ef-a422-49f01b5d6dbb CLINVAR:182243 biolink:genetically_associated_with MONDO:0700269 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4a5adea3-1055-4621-994f-38970f37d563 CLINVAR:182243 biolink:is_sequence_variant_of HGNC:1101 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8d6d976a-b70c-4486-806e-f4964ce6277d CLINVAR:38114 biolink:genetically_associated_with MONDO:0700269 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d24080a8-757a-48ea-8993-653b3ca3164f CLINVAR:38114 biolink:is_sequence_variant_of HGNC:1101 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bcc949fb-d65c-4954-8ae6-538b387afd9e CLINVAR:91457 biolink:genetically_associated_with MONDO:0700269 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9cba2802-664b-40b4-9adf-37c2eecc671a CLINVAR:91457 biolink:is_sequence_variant_of HGNC:1101 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen db5a3956-b3b8-4773-a8bf-b8e656cb9477 CLINVAR:225732 biolink:genetically_associated_with MONDO:0700269 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b277d3f0-796d-41d9-acc5-62a1b0ddafcb CLINVAR:225732 biolink:is_sequence_variant_of HGNC:1101 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2ed454d1-177e-46f5-bd03-996f149ca7c7 CLINVAR:423044 biolink:genetically_associated_with MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c47acc6f-9a07-41c8-a21b-c29ff6dcf6db CLINVAR:423044 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen daaab9db-136f-427e-a6f7-2270184dbd4f CLINVAR:55613 biolink:genetically_associated_with MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 99ef9395-4650-4d4b-851e-5d5aab3c4e02 CLINVAR:55613 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8b7f11e4-0c96-4af9-a04c-90d90558bac5 CLINVAR:225711 biolink:associated_with_increased_likelihood_of MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen dd444fda-39fd-4851-b388-6f2dd07d910f CLINVAR:225711 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6f5a00e3-5f45-40b8-84b7-061ac161748c CLINVAR:91641 biolink:genetically_associated_with MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c3f1f84a-8520-4033-8318-f4d552faf877 CLINVAR:91641 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f09af117-3485-4e89-a43e-038cce3aa96e CLINVAR:55425 biolink:causes MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9867e4d0-9798-4e8f-8038-5c712eeb5d5f CLINVAR:55425 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 66b7936e-0b5a-40d9-bc50-c06ac7bb95f1 CLINVAR:54704 biolink:associated_with_increased_likelihood_of MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a8bfd0af-ae35-4713-88ab-1633ba0e794a CLINVAR:54704 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a3cc6754-8f2a-4f4e-9a4d-a797f234b732 CLINVAR:186913 biolink:associated_with_increased_likelihood_of MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 402fedeb-07e3-4ada-8cdc-e6f62ed0adb7 CLINVAR:186913 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8b876b36-2dfc-47ec-ac12-e48ea38a922c CLINVAR:55732 biolink:genetically_associated_with MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2a848cbe-dbf8-48b3-9fc5-26705767840e CLINVAR:55732 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b13c4b4e-a53a-467b-88c8-96e709bcd5dd CLINVAR:1683998 biolink:genetically_associated_with MONDO:0015628 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4bc17926-857a-498e-88fe-97bb37a1d037 CLINVAR:1683998 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f4c16e4a-e546-4003-b533-1cf1c87fc721 CLINVAR:100408 biolink:genetically_associated_with MONDO:0015628 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9af75c58-e579-475f-90ba-9e291db08c57 CLINVAR:100408 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 21c79e2e-3dba-4d79-a306-d57625b6f995 CLINVAR:102805 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4f3808f7-c066-4871-bbf7-4f6c0c13b59a CLINVAR:102805 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fd1e766a-3cef-47c0-b143-8ebd50b96d10 CLINVAR:551287 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen aee96478-1fb9-4762-b4c4-154cbaef27e4 CLINVAR:551287 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b478b2a6-3d1d-4791-8dc1-26036d64dc57 CLINVAR:284945 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 19e9d674-e131-45e9-8c34-49e2efae84d9 CLINVAR:284945 biolink:is_sequence_variant_of HGNC:10805 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 435486ea-af83-4ac9-bb93-9dfa36353c28 CAID:CA712895444 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6574fef2-efd8-4d41-83ba-5f2609080e39 CAID:CA712895444 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a7541629-e4b7-4af5-99a6-43037c1435df CLINVAR:217152 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9024ae5e-5842-4cc8-9685-d617719b5805 CLINVAR:217152 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d67c9158-0372-4347-be17-bd7a175ff38f CLINVAR:282617 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen be71f512-77ab-4873-9a94-be0434f9ce9a CLINVAR:282617 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 87e8853f-b6ac-4bc6-8092-d1ea4df9b9b5 CLINVAR:551237 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5b69a15d-09bf-444c-9b68-6abb4258cedd CLINVAR:551237 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7b54162b-9761-4177-843a-08d0074f5439 CAID:CA347224828 biolink:genetically_associated_with MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5b92e58f-2c35-41cd-8d1e-c17f0ab12cd1 CAID:CA347224828 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c7b9d343-ffdb-4724-b5bc-a09627ff7f2b CLINVAR:6665 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9c7d04fc-36a9-44b4-8941-81b368394773 CLINVAR:6665 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c74540d4-2390-4800-b4b2-fb755cbf53e0 CAID:CA2832612270 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 17c3d283-62b4-4d2c-ae85-6b2d8b4e05d6 CAID:CA2832612270 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 426fd10b-6bf1-46c7-8907-9852d9d06dd2 CLINVAR:498267 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c3c99bcc-160d-4ffa-97cd-d6f7d1ba807f CLINVAR:498267 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3b6d36de-0a40-446f-804e-bc9e6e0ee05b CLINVAR:285130 biolink:genetically_associated_with MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9a07f9ba-e5d2-44d7-8510-0babd80e34b7 CLINVAR:285130 biolink:is_sequence_variant_of HGNC:10809 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5e401ced-522c-4ac8-8b7d-3f14bedf1d8c CLINVAR:1971 biolink:associated_with_increased_likelihood_of MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b0458fc1-6a9a-4aa5-98df-e03e7cbc723f CLINVAR:1971 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 43b9f2ce-85ea-46d4-9dff-091682095a98 CLINVAR:1070168 biolink:associated_with_increased_likelihood_of MONDO:0010938 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 710f1356-6da3-4a17-bfce-d525aae33c13 CLINVAR:1070168 biolink:is_sequence_variant_of HGNC:6193 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7e85184e-d696-42f6-bf30-8027318d18b0 CLINVAR:660211 biolink:causes MONDO:0000572 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f6bb9979-6972-47c4-8c0d-166fbdb116a0 CLINVAR:660211 biolink:is_sequence_variant_of HGNC:9831 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8fd3535b-cb26-4d65-b96c-a19dc1258ab2 CLINVAR:863577 biolink:associated_with_increased_likelihood_of MONDO:0000572 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d2b173b9-6aee-4601-9281-d7dd2c85b558 CLINVAR:863577 biolink:is_sequence_variant_of HGNC:9831 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a19626e0-2a12-4b3e-b653-e07119e2d23c CLINVAR:13144 biolink:causes MONDO:0000572 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4419e718-bff5-4bb5-b90f-38e0b1e3c4f4 CLINVAR:13144 biolink:is_sequence_variant_of HGNC:9831 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f70eb9c0-26bc-472c-b9f1-501d3d01f314 CLINVAR:960496 biolink:genetically_associated_with MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8e79fe2b-f166-4db3-99fc-d6b2961a9510 CLINVAR:960496 biolink:is_sequence_variant_of HGNC:9832 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d793e39c-87ac-4237-83d4-0ac8972f4108 CLINVAR:370856 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7db3941e-4cf9-4f8c-af85-c9f6bf6cbb92 CLINVAR:370856 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 24e15e6f-dc7f-475e-b4b8-c68af6a9eda0 CLINVAR:194315 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c698c68a-70c9-4065-ab88-6b3ab5ab8316 CLINVAR:194315 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cfdd116d-176e-4f3d-8be0-7fd24b115ffa CLINVAR:421804 biolink:genetically_associated_with MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1e76429a-e5cc-44df-a837-40404df3262b CLINVAR:421804 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 720c6ef6-02a5-48eb-ad4d-7a6f3c75f2ba CLINVAR:127812 biolink:genetically_associated_with MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7948e75d-5b9a-458b-b239-a44b2158c127 CLINVAR:127812 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 38e4b539-7bb0-409d-be4d-c951de9db8ac CLINVAR:1375764 biolink:genetically_associated_with MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen aa5b83f6-0b9d-476b-944b-91406ecafe5d CLINVAR:1375764 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 22d3ee09-05d3-4939-a23c-3542b1f35f1b CLINVAR:1524222 biolink:genetically_associated_with MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 98d07c67-c140-4923-be73-5d974a320b26 CLINVAR:1524222 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1913e10e-de22-4662-9869-0e48c2da9708 CLINVAR:490175 biolink:genetically_associated_with MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8a2e15c9-6dd5-40cf-bdb0-87ec5657ccb1 CLINVAR:490175 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fc937d25-0d6c-45de-bf6d-87413d777857 CLINVAR:1696146 biolink:genetically_associated_with MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 61fb73d2-1284-4131-a11a-a20f7af503ac CLINVAR:1696146 biolink:is_sequence_variant_of HGNC:9832 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 465b984f-f796-41a9-a045-76c2f79ac2b3 CLINVAR:627374 biolink:causes MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a08821b1-fa40-4810-b8f7-b9943ca5da37 CLINVAR:627374 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a4af93b4-bde9-4048-929a-f4f91dbdd14e CLINVAR:1986858 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0cbe7871-c53b-4543-9c2f-bcef5794b2b2 CLINVAR:1986858 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 997128cb-31a6-4a03-a9e1-664b6acfdb32 CLINVAR:2946266 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7f8160f1-a3d5-41f4-99df-98332c318a41 CLINVAR:2946266 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d81a5413-91ae-432e-a695-3472b2764775 CAID:CA23577160 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen aa15ff08-353e-485f-b5ee-d2a895b6a771 CAID:CA23577160 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 54a4ef7a-0a64-4670-9a3b-bff6db5f5a16 CLINVAR:2137414 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f349cdec-c07a-437d-8d64-b78ff0662ab7 CLINVAR:2137414 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f663895a-0682-48ef-a0d9-47736a0d9b55 CLINVAR:829832 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9e88fcc9-db4c-4b3c-b3c7-71af57a5330c CLINVAR:829832 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b7fbb4cc-8d7e-490e-b593-ef6aec816380 CLINVAR:235256 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1c011cdf-c927-4dd3-84af-d84518d77a81 CLINVAR:235256 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f1eb3aaf-e29a-43d6-b63f-07ccb4d07675 CLINVAR:98900 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 404506fa-bd7d-4ef6-a9e3-a23de78dbfe1 CLINVAR:98900 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a7fa0d0d-841c-447f-8475-aef90ce0edc9 CLINVAR:1491487 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3c71c53f-98c1-43eb-b78e-cb37a6e9ed85 CLINVAR:1491487 biolink:is_sequence_variant_of HGNC:4444 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cd87a8ba-aee1-47e0-abb9-aa20f1401a41 CAID:CA354447929 biolink:genetically_associated_with MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 75474342-28ac-4dca-9043-9999a4f22579 CAID:CA354447929 biolink:is_sequence_variant_of HGNC:4444 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen afd2828c-221f-4485-92f6-35be80506e9b CLINVAR:3588372 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0b2b9c49-c1b7-4993-a444-d57df99618ee CLINVAR:3588372 biolink:is_sequence_variant_of HGNC:4444 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 17b5bfc3-e953-4780-8a3a-1d45ea49c709 CLINVAR:2503896 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen fd2a0f8e-1773-4551-97ab-fdd8015fc76a CLINVAR:2503896 biolink:is_sequence_variant_of HGNC:4444 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1eba152e-e15b-4fd9-b591-e491a2bc0c2a CLINVAR:1691234 biolink:genetically_associated_with MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4416a6aa-209e-4c0b-9198-4acbd9d58d65 CLINVAR:1691234 biolink:is_sequence_variant_of HGNC:4440 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 54636bc3-615b-4673-9210-72970513305f CLINVAR:627355 biolink:genetically_associated_with MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 396002e6-62a9-48fa-a067-acc2ecb1132d CLINVAR:627355 biolink:is_sequence_variant_of HGNC:4439 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8dd02e96-cb48-40f2-8bb7-65c0dcd3a51b CAID:CA658795219 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 010f2786-26b6-4d2c-8df7-e73bbdcca952 CAID:CA658795219 biolink:is_sequence_variant_of HGNC:4440 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ecab7158-b3a2-48ae-bd34-e53e98975a07 CLINVAR:1703859 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6ac4c13d-f2da-4bc9-b92a-88a10cd6c71b CLINVAR:1703859 biolink:is_sequence_variant_of HGNC:4440 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7e2c900a-dbec-446c-aa03-d68348aea8a1 CLINVAR:16040 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7e52e21c-59ce-4f50-82a2-2cdedc64c7e3 CLINVAR:16040 biolink:is_sequence_variant_of HGNC:4440 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0827c590-605b-41b5-aa40-88a3605b0d7d CLINVAR:890136 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 148fefb3-f6d3-45b9-bbc2-ab4a9bbca7f7 CLINVAR:890136 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 95f96b99-af92-4c96-babf-93f7a793e97e CLINVAR:2154687 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 24151fbb-25e5-4cb5-9e5a-7012cf626425 CLINVAR:2154687 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d1829eb0-2052-4aca-9f2b-69004e8a9cb7 CLINVAR:2507419 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3d4cd129-1db4-4f86-920c-76bec3dcec12 CLINVAR:2507419 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 876a7cab-7233-4e28-9432-914cc7523737 CLINVAR:932855 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen cb3242ab-73ff-4faf-b025-f0a25ac328db CLINVAR:932855 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 921950a7-94c8-4db9-90af-b7fdb554fefe CLINVAR:541717 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8184faaf-1030-464b-9a11-b5b6d5e17b4f CLINVAR:541717 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 190e4464-319a-45eb-856c-78cb644e87e5 CLINVAR:2629237 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen cbc30a48-014e-43c2-9156-b2adbd3420dd CLINVAR:2629237 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 72fbce58-bf84-497e-9bb7-ac587f116419 CLINVAR:2671648 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2e8c2c8e-c234-4235-b352-52db2794a91d CLINVAR:2671648 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9bcdc739-f3f0-4e16-89ad-758ae7cd5337 CLINVAR:1930166 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5f71e482-ea59-4f5e-8932-755811d103ad CLINVAR:1930166 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7ebe034a-619b-4640-b75a-aff78c6fc65b CAID:CA343724600 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c0b452c3-2987-4cd1-b3d5-de5aa13e670d CAID:CA343724600 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 42844078-4070-4425-8128-6a791fe68352 CLINVAR:448982 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d6cbd768-abea-4285-a7cc-cdfeca2c30e8 CLINVAR:448982 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9e68e98f-160d-4326-aad8-660ca664684a CLINVAR:285852 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d93dfc91-2104-462b-86bf-235fee200c82 CLINVAR:285852 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 91b8608f-b6d5-4700-b44c-92636e9edcbf CLINVAR:203584 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 63cf7860-2ba7-4a86-8dbf-1f4b5275bbd0 CLINVAR:203584 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0eb6a2a7-982a-4a3a-acd6-434364159279 CLINVAR:166647 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7980bde1-72e9-44dd-b5d3-5a091005866c CLINVAR:166647 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ee21b934-fc7b-48f4-a3df-029717913af7 CLINVAR:932837 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 613604a4-0c16-4f84-987f-766d32e4b8b7 CLINVAR:932837 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c0b44dec-996d-4eb1-b5fe-e954757311eb CLINVAR:193786 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a1720647-a88c-453b-a1d1-264491ffe0c8 CLINVAR:193786 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 670cff0b-b7f1-438d-9d95-97fbd4206424 CLINVAR:100923 biolink:causes MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 170a9238-e956-4c16-82e5-13a03b5e251f CLINVAR:100923 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3e7bca2e-5a18-4b3b-8301-dc99b323bb07 CLINVAR:1068471 biolink:associated_with_increased_likelihood_of MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f13ab7cf-a952-466d-8b9b-bb88570ddc31 CLINVAR:1068471 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fcca85f9-babc-4ca6-841d-28f0de719b67 CLINVAR:18021 biolink:associated_with_increased_likelihood_of MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0dee0396-ad7a-478a-bab1-48926df0ab57 CLINVAR:18021 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cffd6172-9351-49ce-95ab-127a28a88ea0 CAID:CA343777475 biolink:genetically_associated_with MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6b7dd3ec-8363-4115-ac74-4934b6f7596c CAID:CA343777475 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen adfaad3f-5bd0-4a5a-a785-c129e2720492 CLINVAR:1997307 biolink:genetically_associated_with MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0ed5d618-a713-4c23-bc11-8120e0be9302 CLINVAR:1997307 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b3c8db54-dfca-41aa-82f6-34a3f0725ec9 CLINVAR:1001692 biolink:associated_with_increased_likelihood_of MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1329c03b-b6f3-4b09-b181-b6e0bea4cc2a CLINVAR:1001692 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 385c242f-5410-4cb7-85c2-d2b5af41866f CAID:CA32782248 biolink:associated_with_increased_likelihood_of MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d20e78c4-1f39-4ab4-9223-fa2e9e4f4f5f CAID:CA32782248 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 02d3b43b-6fa7-48ae-824d-b21fd4e165b7 CLINVAR:1353268 biolink:genetically_associated_with MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 98c70412-e623-4bcd-a49d-1eb14cf3758c CLINVAR:1353268 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 230bbe9f-f252-4aa8-8949-e14da908bfa7 CLINVAR:1678105 biolink:associated_with_increased_likelihood_of MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7125dc42-ede3-4b16-9ae5-b85eabdc75e9 CLINVAR:1678105 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 58dad058-dfef-4cc1-82c2-00db94b4cdb1 CLINVAR:1324499 biolink:causes MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b7fbaf08-e76b-4d9f-9b17-8db83f7b0a85 CLINVAR:1324499 biolink:is_sequence_variant_of HGNC:4440 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a48a0bdf-4b43-409b-a9e2-64c6469b2447 CAID:CA2695233282 biolink:associated_with_increased_likelihood_of MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 620796a7-3b69-4f7b-8d68-93df4ed2614a CAID:CA2695233282 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 94dbdcfa-fd03-4bd1-b2cb-ae65aef742f4 CLINVAR:2907569 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 97dfa3cc-25c8-489f-aa83-1ac235521785 CLINVAR:2907569 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f73989ad-7d98-4e93-b44b-9690f6d38c36 CLINVAR:2736680 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f77a2e6e-3ab4-43d0-b952-552f085a9d7e CLINVAR:2736680 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ee10722e-ebc4-4e69-9743-5e68fcdc2bd8 CLINVAR:972792 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 19c0146a-415d-4fc5-8b93-26bc14b0e7d4 CLINVAR:972792 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 55485099-1737-473d-87af-fc55f056fb36 CLINVAR:2736673 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 777fc4a8-9109-4bc9-bfaf-99842017d183 CLINVAR:2736673 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d11f3a61-8478-4340-ade2-2f93235fbad4 CLINVAR:935900 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d5f02476-e36d-412b-96a9-30ae4520e4bb CLINVAR:935900 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cdec80ca-634d-4e8f-a534-f5e823bb279d CLINVAR:2727745 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a47a532d-3496-48f6-9778-c16e17e04b4a CLINVAR:2727745 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 337a43bb-4538-453b-bfd8-e3c58b342331 CLINVAR:1209876 biolink:causes MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen db74faa9-3ae9-4914-9a24-3a14f22e1c90 CLINVAR:1209876 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 573e87e6-08af-4e04-9be5-e85f4d1d8690 CLINVAR:929411 biolink:associated_with_increased_likelihood_of MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b61c2017-ff90-40c7-8db7-fe5fe075f3c2 CLINVAR:929411 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9d1186e7-bcd9-4b97-8dca-6fc4c5b0936b CLINVAR:30563 biolink:associated_with_increased_likelihood_of MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen bc3e9ef5-fa5c-4178-9d71-d31495f3cc9d CLINVAR:30563 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fafcbc87-2303-489c-bec0-542b27ebc3f4 CLINVAR:933077 biolink:associated_with_increased_likelihood_of MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 53a9fa5f-3e0a-4a8a-bb52-dd40e5437192 CLINVAR:933077 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 50c2a601-83ea-4a53-8350-850fca3caeee CLINVAR:3501939 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c2534bf6-be65-49c5-b961-0165b4d5e3af CLINVAR:3501939 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5b0b98b4-4fc3-4fbd-9eb0-0a78c700ed27 CLINVAR:2903970 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a3bba41d-bc3e-4b97-9d9f-8c0d8a16c841 CLINVAR:2903970 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 29bd6ec9-262c-492c-89d9-ed4d4973ea73 CLINVAR:657274 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 11bca2a5-a5a7-4288-ae94-cfad10b36aee CLINVAR:657274 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 169f5c51-d3cb-4cd1-bd1f-1a51bbc87c34 CLINVAR:2445404 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4a36eeac-ba51-4162-b3a4-fd994c456bf9 CLINVAR:2445404 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3d222415-b31c-41a9-8b65-df0369d8b4f6 CLINVAR:183109 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 073c748f-54e6-49fc-8a69-2a3cd2c4b0b7 CLINVAR:183109 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6c2637c6-9c5f-44b8-a5f8-3c3696fa2a16 CLINVAR:226350 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 507e6450-057d-42f2-aebf-4890f54771f0 CLINVAR:226350 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 22f6d3b8-c04b-44a6-aab4-9c16d711cc95 CLINVAR:3074081 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f935377a-50e5-4325-a742-e489215082f4 CLINVAR:3074081 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ede1c8da-1664-467d-933e-4c652051e8e2 CLINVAR:441214 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 40b71f97-2dd9-4999-afc3-f6286e7ac2ed CLINVAR:441214 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 917dabd2-10ae-481b-a6da-8f0a99dcb722 CLINVAR:99292 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen cdd797a5-3b6e-4f47-a011-11bb7c15fed6 CLINVAR:99292 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a38b69c4-6ef6-40cb-9b3b-79ae8bc1cb2b CLINVAR:417992 biolink:associated_with_increased_likelihood_of MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6f84efda-f21d-46dd-96a8-2eb280604a57 CLINVAR:417992 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen df1bef76-50fd-4f86-ab76-dfd8258425fa CLINVAR:298237 biolink:genetically_associated_with MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e58e2b2b-4bf0-492f-a31a-3b1c07c95792 CLINVAR:298237 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b4bb3f16-8c3b-4113-807e-a8df6e7785e7 CAID:CA386963839 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d1b4f192-2377-4e5e-bad3-2f25ced42974 CAID:CA386963839 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 830bad98-d6a0-40fd-bcb2-f719be4af248 CLINVAR:14944 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a34e9c6d-e890-4ea5-a1b6-cbbcdfa86587 CLINVAR:14944 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b37c9079-3229-49fc-adcf-8a657b399fe6 CAID:CA386964102 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e9b44a17-575f-40ba-81ef-c78218925228 CAID:CA386964102 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 518893df-15bf-4f91-9abd-16c1989cd91b CAID:CA2573051299 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4f5c91d2-05fb-4ba6-8502-75073c902240 CAID:CA2573051299 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9d90dc08-e93a-4d08-ad22-3d2bd769c467 CAID:CA2580612115 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 92417bef-acb9-4fd3-a50a-e4a761dc06fd CAID:CA2580612115 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ad1e8166-e291-48e3-b0dc-e4742c1ef9b9 CLINVAR:585916 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6118945d-bf4d-46a4-9f7c-125d291612e3 CLINVAR:585916 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 96ef591d-667b-4fe3-a359-587651e07326 CLINVAR:2635153 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d8c08713-1a38-4a50-8e18-aba8d8e59aa4 CLINVAR:2635153 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 001f8764-6426-4153-9eff-6c4323dff919 CLINVAR:1700674 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ae571c92-20bc-46ce-b874-f7f73349c9c2 CLINVAR:1700674 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7969e33a-75ae-4ca3-ac9e-6b9a4fb27585 CAID:CA367398213 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5ff84efd-f74a-424d-8710-0fd072ff2930 CAID:CA367398213 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d5dea808-5dea-44a7-b40b-c6b865272fbe CAID:CA367398211 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0117b37f-a4ff-4b41-a8ab-560b5eda15d6 CAID:CA367398211 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e6c47a3d-a853-4854-82ad-ae0427225a5b CAID:CA367398219 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 59bb1c0a-5953-4f27-822b-8364821fe875 CAID:CA367398219 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3eb4c004-cdb5-47d3-b6b1-75dc68eb807b CLINVAR:804839 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8c7232db-114d-4b50-afeb-e15237247902 CLINVAR:804839 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3980dfb8-fbe4-4f3e-9e0a-b8b69b94ad65 CAID:CA367398220 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 00c84bad-a680-465f-8315-79ea56709360 CAID:CA367398220 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 05a58d1d-7587-45b9-ab5a-a3e6e7a0f290 CAID:CA367400741 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 34f60580-5ebb-43d3-b14f-1c85b489a4b9 CAID:CA367400741 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5bca0b5b-b0d6-4883-97b2-23ba7f661dda CLINVAR:447404 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen faec5f07-d003-4512-995f-4fb97ef23d07 CLINVAR:447404 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 92f2e55e-ca9e-40cf-8a61-ebe072811c90 CLINVAR:1743101 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 243dcbe7-e447-4464-bc01-0ef14c0e8c7a CLINVAR:1743101 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2bfc99e5-e0c7-4fea-aefe-a7eaa0d1eb45 CAID:CA367401841 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a5d914a4-f2ee-4963-9473-c82025f58036 CAID:CA367401841 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f6fff206-a344-4c96-9981-7bc4bc30282e CAID:CA367401839 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 77f6143d-fedc-4f8d-af33-ca2499123688 CAID:CA367401839 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4127251b-33b4-40d3-af51-0fc19df27919 CLINVAR:36259 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 646f88ff-7e84-4174-9ee3-bc883db3d9ac CLINVAR:36259 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8dac9f47-f6cd-49da-8ff2-6f184e8fcded CLINVAR:1464253 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 79004a1f-74bf-479e-9c7f-79b599092f56 CLINVAR:1464253 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 40cbb896-1681-40d0-855c-a277732c01f6 CAID:CA367401151 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 362674b3-8653-4c66-a5c4-8af72d133e94 CAID:CA367401151 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8cd2a7cc-9aac-45d9-a1ee-64616c83b2d8 CAID:CA367401143 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e3d80c57-2cfe-4389-921b-dc70c7a4d543 CAID:CA367401143 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a903d36b-9c4d-4959-ad16-42a0e8a1d559 CLINVAR:3661587 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d8a71360-ee8a-4993-b02c-93638188920b CLINVAR:3661587 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1f11e71c-c337-408e-a6f7-5e51a08d91fe CAID:CA367401307 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f69cbaf0-3095-444f-abfe-7d91fcea50e6 CAID:CA367401307 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b6d0b94f-115f-4bb6-bf33-fc8f138b46c6 CLINVAR:1933344 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 012456ed-7705-4323-afff-c9065c848187 CLINVAR:1933344 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ce9c7e84-ff61-4070-84ed-86733ae32fcd CLINVAR:1679547 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 79fb6e38-bde7-4559-aa8a-822b08088b8a CLINVAR:1679547 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0deb063e-cd5a-4105-ac9a-45bb598fb796 CAID:CA409110474 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7a7504a3-85b3-444d-9024-813df28f8e4f CAID:CA409110474 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f9751683-c103-4194-87da-db63b2356d93 CLINVAR:3664830 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3232c03c-64c5-497f-a2c2-a91cab516d78 CLINVAR:3664830 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0713ebf5-3828-44bd-beb9-7183ebd55fad CAID:CA3250171760 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a6ac9994-7025-4d64-94e0-80790369813c CAID:CA3250171760 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 644d668c-5cd1-442a-89c5-0dfc9280ebc0 CLINVAR:68535 biolink:causes MONDO:0100135 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ec391101-d97e-4805-ad20-5319e0066d33 CLINVAR:68535 biolink:is_sequence_variant_of HGNC:10585 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a74b9f1c-d99c-4f6e-84e0-b6f95545066b CAID:CA349071276 biolink:associated_with_increased_likelihood_of MONDO:0100135 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ed3ca495-769f-4098-b080-a14166979a51 CAID:CA349071276 biolink:is_sequence_variant_of HGNC:10585 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a62f5698-1240-49d3-9894-111df7a332c1 CLINVAR:4079962 biolink:associated_with_increased_likelihood_of MONDO:0100135 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen bf15f505-1bc9-4223-8251-04e6e5d05ee1 CLINVAR:4079962 biolink:is_sequence_variant_of HGNC:10585 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 58f85878-02e1-45f1-8b98-a78d05f8d4b2 CLINVAR:68667 biolink:genetically_associated_with MONDO:0100135 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7dd8d6b4-7440-4796-b317-ad0398556f09 CLINVAR:68667 biolink:is_sequence_variant_of HGNC:10585 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1c96e0ab-bd91-42e3-aa3d-32c6395205ce CAID:CA349065650 biolink:associated_with_increased_likelihood_of MONDO:0100135 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 917bb3b0-ebca-4eb0-920c-0eaff60855fe CAID:CA349065650 biolink:is_sequence_variant_of HGNC:10585 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f7d3146c-8fd6-4a7a-8f90-041d5381b2dc CLINVAR:189965 biolink:associated_with_increased_likelihood_of MONDO:0100135 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ad6af354-aefa-4350-9730-3d0f293ffe42 CLINVAR:189965 biolink:is_sequence_variant_of HGNC:10585 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d7025682-5717-4281-9c09-72f764332767 CLINVAR:646111 biolink:associated_with_increased_likelihood_of MONDO:0100135 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7271fedc-d504-4893-b905-19a04d2a2aa7 CLINVAR:646111 biolink:is_sequence_variant_of HGNC:10585 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 84f7db07-1d69-404c-9247-06892e46ec3f CLINVAR:1171040 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8e742045-1e1e-42eb-91e5-8ac93ba2fe98 CLINVAR:1171040 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4307f78f-e250-45da-b065-8303154b95b8 CLINVAR:1454181 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5bef15bf-6fa3-4d7f-8731-68a3c6c4f1c0 CLINVAR:1454181 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fcfcea37-ded2-4078-9668-a2eaf14a128b CLINVAR:375836 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f7dea387-7782-43a5-8929-2d8953116644 CLINVAR:375836 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ce7cf317-0d0a-4c94-b4eb-3fddf8f33716 CLINVAR:440532 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f43353e9-e3c4-4895-91f7-cc475703c34f CLINVAR:440532 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dc4187f2-cf98-46f8-bc1e-a6fd343336ae CLINVAR:265904 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f4002d18-6bb6-473c-8bf5-327bc5604763 CLINVAR:265904 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 244ef87c-a3dc-4d49-b10c-cac0e6761f2c CLINVAR:440616 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a810d26c-7211-4dcf-94cf-da1cca9353b3 CLINVAR:440616 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0b34e163-d6a0-48b9-83d7-6edcf7466f99 CLINVAR:251371 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5ef434e5-4f7d-4f1f-990d-403c0c480353 CLINVAR:251371 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c4d9958c-e516-4694-bf89-0bd8fa3ed080 CLINVAR:440656 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen af7d994f-3df2-444d-950c-5dd54d37470d CLINVAR:440656 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1b501e60-001e-40a5-97a9-3d44d1c4c0b8 CLINVAR:440551 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 82ef8595-d141-48fd-86cc-e44666602f18 CLINVAR:440551 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b737896c-8562-4c72-b7e5-81356fb93a76 CLINVAR:1958 biolink:causes MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 09a41ef9-0ab5-41e5-afb5-13f4e1115170 CLINVAR:1958 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 42b3d51a-2111-417d-b84d-868f96afd368 CLINVAR:10025 biolink:causes MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e280fc79-a86c-4a7f-b32d-7805c3432c68 CLINVAR:10025 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 506128f8-14e7-43a0-a45b-29a27671b35a CLINVAR:1045150 biolink:genetically_associated_with MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0941264f-3593-4325-a0c4-fa4ac2a9a0a5 CLINVAR:1045150 biolink:is_sequence_variant_of HGNC:9832 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e1b6c5a2-688a-48c5-8a42-73d55ee6ea0a CLINVAR:1322957 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a9eed3b9-0a7b-466d-83fd-ec04f892e85b CLINVAR:1322957 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8214ac13-1355-428b-901b-78e30de63b51 CLINVAR:1687091 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c0b93ad0-26c7-4663-938e-7d59338432df CLINVAR:1687091 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7ac85acf-dcbe-4c56-9c72-a99fc36160e1 CLINVAR:554593 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ade10c85-3139-43a8-8405-402b78061229 CLINVAR:554593 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 229da0c6-48aa-4389-bc1b-196c01ba491b CLINVAR:3639714 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ab7bcf75-632e-4eba-b951-77ceebf715b4 CLINVAR:3639714 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3f765263-f92f-407b-b07f-15d315e7da17 CLINVAR:553029 biolink:genetically_associated_with MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 99e7d844-655c-41d2-9324-67ec3e0f4ce7 CLINVAR:553029 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen df05636a-2f4d-449f-bb58-21f2fef38692 CAID:CA355961926 biolink:genetically_associated_with MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen bb10c71e-1223-47d2-a8dc-5a6a96af4848 CAID:CA355961926 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 60944809-8ea8-4b1d-9fe5-761e806252d0 CLINVAR:1076378 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b6bcd6fc-29c7-445f-9e42-dcf0295818da CLINVAR:1076378 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fa878a47-8473-4c4d-83bc-c4fa1d1068d5 CLINVAR:2145829 biolink:genetically_associated_with MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen da149baf-9d9c-4708-9b46-7a2c1dd98d3d CLINVAR:2145829 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen def41092-8b46-447e-8686-c418d7ca85f9 CLINVAR:2184620 biolink:genetically_associated_with MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7275984f-0322-45e8-930a-eda185d574e9 CLINVAR:2184620 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 14b6454e-55b0-419c-92e1-4fdaefee7c20 CLINVAR:638077 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 75fae74d-6a59-4b46-a5d9-c65fdf396c87 CLINVAR:638077 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a511e6c6-634e-4611-9ade-68a4e5c5eb4f CLINVAR:1328979 biolink:genetically_associated_with MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0be8bdac-b5d7-404a-96f6-840e674930bb CLINVAR:1328979 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d78748f6-5366-4816-aff4-89d41e8f282d CAID:CA658760370 biolink:genetically_associated_with MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6895356c-a724-4458-9659-87290afd6708 CAID:CA658760370 biolink:is_sequence_variant_of HGNC:4444 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 63b7fea2-20d7-40e2-b5ae-297fda007601 CAID:CA397317465 biolink:genetically_associated_with MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5ce04fe3-1a27-456e-b80d-364b12b1ea6a CAID:CA397317465 biolink:is_sequence_variant_of HGNC:4439 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6ccabd35-eeb4-47bf-ab0a-1a3d8d660fe1 CLINVAR:1031446 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 17220fef-7023-466b-84b7-692be936858f CLINVAR:1031446 biolink:is_sequence_variant_of HGNC:4439 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9586a277-de3a-4dfb-8103-c9a22b35d0d8 CAID:CA658820739 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4dd03658-7530-4040-a362-5b7d6fde6271 CAID:CA658820739 biolink:is_sequence_variant_of HGNC:4439 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2f4a182e-939f-4486-bece-770329fd46a1 CAID:CA3250151382 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2d9efdd2-26c8-40fa-9ac0-3967b26bf57b CAID:CA3250151382 biolink:is_sequence_variant_of HGNC:4439 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ae58901f-c1cc-4a46-ae06-bee94160fcf3 CAID:CA2580611803 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a1e8b3ff-38bb-4105-a247-926ee0bea69a CAID:CA2580611803 biolink:is_sequence_variant_of HGNC:4440 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 94393748-6367-4e50-b001-d38414897343 CAID:CA410677368 biolink:genetically_associated_with MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 42aeab2d-3a47-4911-8e34-c353df9fbd6f CAID:CA410677368 biolink:is_sequence_variant_of HGNC:4440 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 291b494d-7c56-400b-b09f-f4a300a99935 CLINVAR:1691233 biolink:genetically_associated_with MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5bfc1794-1a2d-46ca-8877-f1993929ff80 CLINVAR:1691233 biolink:is_sequence_variant_of HGNC:4440 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 777f7c72-da42-43b9-bc81-1d66fb8fe9db CAID:CA354447595 biolink:genetically_associated_with MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7ec1ab35-6773-49fa-be8c-cfc839e6dfe1 CAID:CA354447595 biolink:is_sequence_variant_of HGNC:4444 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5ff88a62-8f53-46e8-828f-d69e6b6ffe48 CAID:CA354447724 biolink:genetically_associated_with MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 933fbd64-ab0b-4fea-b1d4-62b38221fdc8 CAID:CA354447724 biolink:is_sequence_variant_of HGNC:4444 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 41dff3fa-1983-4f6d-a946-7c76dd8083f4 CAID:CA354448412 biolink:genetically_associated_with MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 595cc504-5b56-4ce1-ad1f-00f101cf8198 CAID:CA354448412 biolink:is_sequence_variant_of HGNC:4444 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 28bd0cff-3df5-4f10-92fd-272ca9a24e08 CLINVAR:1683228 biolink:genetically_associated_with MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen dc663fcc-2781-49fb-9850-e0589988b156 CLINVAR:1683228 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 613090c5-9635-4600-8a28-15ec54ba1e6e CAID:CA2586965987 biolink:associated_with_increased_likelihood_of MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ba54f128-6bf3-468c-abcd-eab2485ab2f7 CAID:CA2586965987 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 32a26d01-ce7a-4000-ab5a-e584b52f2248 CAID:CA2586965989 biolink:associated_with_increased_likelihood_of MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen fb6faedd-6080-4c81-9c89-584a1f7094a3 CAID:CA2586965989 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen df9d098e-a7f3-479d-a81b-2d84fef5a352 CAID:CA355963142 biolink:associated_with_increased_likelihood_of MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 756b1e40-6cf5-49a3-9c0d-61beddbcfb34 CAID:CA355963142 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 32418186-2520-4596-b351-dcf0df63692b CLINVAR:2577224 biolink:genetically_associated_with MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 136e6a49-80de-4626-811f-b4338c186d2d CLINVAR:2577224 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen df47dad4-b64b-4517-a1e6-e394cc1bc6fe CAID:CA414915827 biolink:genetically_associated_with MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5e13d660-4784-4325-a4f0-b671cdd11908 CAID:CA414915827 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 018d736c-d262-41e6-8180-55dc81c44364 CLINVAR:826488 biolink:genetically_associated_with MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9a88ce3f-daaa-4d97-a6ed-a4d5a9ba6c2f CLINVAR:826488 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c19834ed-22b2-4d43-af8f-8055d3166019 CLINVAR:824232 biolink:associated_with_increased_likelihood_of MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ade5e153-4784-4fbd-b1bc-0be383d2467c CLINVAR:824232 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 67673e55-c473-4c92-bcab-4467de3ad541 CLINVAR:422414 biolink:genetically_associated_with MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f0babea5-fcee-4525-9513-6402541c62ca CLINVAR:422414 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ba7d691d-f266-4bd9-b546-a15858d13107 CLINVAR:2758378 biolink:associated_with_increased_likelihood_of MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5c0f7bf5-6f68-4b10-b852-431f0277ea7a CLINVAR:2758378 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 46921224-de3c-43a3-a4f5-cd8df8b4cd65 CLINVAR:376633 biolink:causes MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen fb350f71-6847-433d-b35a-4b2d12643753 CLINVAR:376633 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c15b1595-ffba-4433-9b4f-1951dcb7621a CLINVAR:551723 biolink:associated_with_increased_likelihood_of MONDO:0009595 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 39951d27-43c9-4a36-ac21-934841e4be53 CLINVAR:551723 biolink:is_sequence_variant_of HGNC:10031 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 04f806f0-6e0a-4175-b84c-44a9ecd9fa6c CLINVAR:208611 biolink:causes MONDO:0009677 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 82c4a5dc-270e-465a-9537-fec50b4b2c75 CLINVAR:208611 biolink:is_sequence_variant_of HGNC:10809 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 15fba647-d523-46c1-853a-aa032c52e484 CLINVAR:94305 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen cfd799ef-6580-465a-b7d3-496ff8b9a21e CLINVAR:94305 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fd056b6e-9927-491a-895d-7bb71782bf56 CLINVAR:195748 biolink:genetically_associated_with MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 13d770d7-82b3-4d13-be3d-3df20a6dc54f CLINVAR:195748 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e3a66433-b3f9-4417-a55c-7a4235593a7e CLINVAR:496979 biolink:genetically_associated_with MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d0bab44d-fa4a-4c5f-ad6a-7ba3163706d5 CLINVAR:496979 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f10bb7d6-6614-438b-9b5a-c3a9569e403b CLINVAR:288397 biolink:genetically_associated_with MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4be722a7-fd1f-47a3-b601-1ee5cd6a01fc CLINVAR:288397 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 94927e2b-bafc-4cff-89ac-396b0f75d155 CLINVAR:2441135 biolink:genetically_associated_with MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen bdf064f2-1dae-417c-9d65-bfeea06cf671 CLINVAR:2441135 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c568e63b-ad45-4eda-ae9d-78747bd83de2 CLINVAR:217149 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 503b2dc6-8290-4004-91ca-b270db3d4c5d CLINVAR:217149 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b6e748d3-0f33-4356-bd25-1a86f7f043c4 CLINVAR:96679 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ce4d498f-b25f-4273-be6f-b8929e8c6453 CLINVAR:96679 biolink:is_sequence_variant_of HGNC:27337 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 83b3a808-e830-479b-8a29-273bbfd0269b CLINVAR:813969 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 60ad27b2-6eef-425b-bf3d-9f8dfff81a13 CLINVAR:813969 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d42a3099-f7df-48ba-9136-49d51e66e7fc CLINVAR:281140 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b5bc9723-12ee-44df-b5d2-d7f6c264fedc CLINVAR:281140 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ebc48c0d-0e79-4c8d-9d28-567a153b80f7 CLINVAR:198495 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a860479e-fb33-4a1a-83ec-b7eb6ec56af9 CLINVAR:198495 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9eb987ff-04a7-4497-b11a-d3616d9358d2 CLINVAR:2441119 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0c20f190-78c6-4c72-8db9-1cde1439cb87 CLINVAR:2441119 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 96ff2124-2224-4f39-9f37-98a21fd9ee73 CLINVAR:288183 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 84a47fb2-48db-4eda-a5c0-e0b7111fe7cc CLINVAR:288183 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen def7cbd8-e704-462a-8d8e-7429864a69b8 CLINVAR:281954 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d4efa0a9-1b11-4fdf-8d0e-fbc0cf671314 CLINVAR:281954 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1b3616ec-c6f1-4dc7-ac78-daee47994f41 CLINVAR:545663 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen bc06fdb9-9a93-41ae-b739-6088d5aa9118 CLINVAR:545663 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c7ccf167-cdb3-4bbf-b16e-240684ba4c76 CAID:CA2586964930 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f3e7f795-107a-429f-8aa6-bcccfc3d8797 CAID:CA2586964930 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7d734235-f34c-4a3f-a0e0-9a0004b97054 CLINVAR:545009 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ad4ee107-0857-4b42-b762-67aaa26992ec CLINVAR:545009 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b679ba18-b4f4-4b73-84c1-94fe6345a2b2 CLINVAR:288442 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5d205f38-d56a-4ca9-b8d7-136b3fce3d37 CLINVAR:288442 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 48d0306b-df3f-4be7-afa4-0ca5c2dc6ee4 CLINVAR:551236 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3396e87e-6e18-4f8a-9b20-b73f66c65c11 CLINVAR:551236 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0ab93a45-e684-485f-9ad4-ffc05943a63f CLINVAR:196175 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7b5af2de-063e-4e96-8abe-c510e768009e CLINVAR:196175 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e65f7554-f44f-4ba2-80b4-ef5784c8c5a8 CLINVAR:4067072 biolink:causes MONDO:0016971 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 61956b77-c7ec-4072-bf6c-0849cbdb477c CLINVAR:4067072 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 54b99b06-3473-4a05-aad6-baaaf82f0c4d CLINVAR:94303 biolink:causes MONDO:0016971 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen cdc67e6e-3bc6-4643-a297-406a1346a7e4 CLINVAR:94303 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 31d39dca-98f7-4404-be52-7d13427f1d45 CLINVAR:282449 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e77a20b6-1129-4250-89d3-0af8eb6734ed CLINVAR:282449 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 72f1c9a1-cade-4082-92f0-b8d99f86f768 CLINVAR:6676 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e67d49c6-2073-436a-8c1a-ea38065f7f04 CLINVAR:6676 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a63e0bec-4a0d-430d-8d22-0bc5803ba18c CLINVAR:2441144 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3c92eb7a-cc7a-4f3e-8f3d-2baf368b3e69 CLINVAR:2441144 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d860dfd8-327b-415c-9188-b45b2ff44e42 CLINVAR:498954 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5da1e3eb-1bbf-46c5-9de4-879587bd7f9b CLINVAR:498954 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d1ce2421-3682-4b1e-a325-193e90566c7c CLINVAR:1521979 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b99f4abf-dcef-489e-abc6-00e242c9af27 CLINVAR:1521979 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1ed7b273-e569-44d0-9244-0f3ce016b0fc CLINVAR:658470 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a6f0b657-75eb-42f4-a0ef-4bd4aeba538e CLINVAR:658470 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f391d209-002f-4e50-87d8-9bcac0e87765 CLINVAR:288830 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d59fc80a-c76d-4be9-b1c9-3ae7ed405e80 CLINVAR:288830 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b5b94f01-d938-48f6-97c8-b6634041378d CLINVAR:2674972 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 13fbd1c5-eb1d-4380-b790-5fa3716b0e6c CLINVAR:2674972 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 83e5f8e8-e14b-46fd-98d0-93eef377ec8c CLINVAR:242527 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 01538dbb-4158-4018-b59b-937f24149c79 CLINVAR:242527 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eeeb5821-aa02-4b35-b378-f164aa5de646 CLINVAR:567124 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0e7c190f-94cc-4d27-8be1-469766944e2a CLINVAR:567124 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5cbd067e-96a9-42b8-8f88-88d133809253 CAID:CA347220971 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen be14a5c8-1c9d-4302-8dc8-fe7ab7055f70 CAID:CA347220971 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2f1520ef-f9f8-4131-a610-9f463aa5194f CLINVAR:94336 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a7e9c947-5926-4656-bd4e-ce21d3f0e53f CLINVAR:94336 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ea60f9a8-3a1a-4d2b-a823-d3888999f67f CLINVAR:283243 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d020d5b9-4cdb-4dfe-90f9-00735e7b0ba0 CLINVAR:283243 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6afb09af-adf8-4fe8-a33f-82e7a7550854 CLINVAR:284471 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 39239af6-4f17-4529-aa95-8108920d1de2 CLINVAR:284471 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3932ab04-d137-47bd-b038-1ef119abe552 CLINVAR:283475 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c498c308-ec84-4a29-affb-c3941f6ee01e CLINVAR:283475 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8562a778-529f-47f7-8443-1aafcb665fb5 CLINVAR:858838 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3f001059-822d-485f-b73a-cc7d48934244 CLINVAR:858838 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d00d24eb-a6ff-4370-b940-f205aba72e12 CLINVAR:17614 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d9bd82f7-d0c1-42d8-b1eb-9013b14b5919 CLINVAR:17614 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 71b906ce-9db3-487f-ae98-eabbd048a252 CLINVAR:551477 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5347657e-0808-4d6c-828e-4b09b7f92f6b CLINVAR:551477 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 29eb606d-d636-483e-bd0c-3f534e22ef9a CLINVAR:871348 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1171f874-a0c2-4b8a-a2ee-ef4b774a3428 CLINVAR:871348 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 50b55d28-c541-4a70-b1cd-5f3c8cb06176 CLINVAR:2163 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1ee5d849-1d47-4f43-8dc7-8907acf72009 CLINVAR:2163 biolink:is_sequence_variant_of HGNC:27337 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3934123b-57d5-4304-8a89-61c6fd2223ee CLINVAR:280038 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d137f343-2d19-4c37-a75f-a5b4efcb777e CLINVAR:280038 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aa92d332-69f5-44fa-ac91-ee062713cfdf CLINVAR:1491619 biolink:genetically_associated_with MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen af3f44f0-572b-4f3f-90b6-a2cbb5b8bfda CLINVAR:1491619 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f8b562eb-3b57-410f-9500-5d6160a1b424 CLINVAR:597829 biolink:genetically_associated_with MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c1306b16-ea72-4978-ad4e-cac073d194f2 CLINVAR:597829 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 18ff221e-4c63-4773-9693-272d179caa45 CAID:CA343724244 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0046d649-3c88-4eb5-8ea2-0729a05d1993 CAID:CA343724244 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 91b17c65-bebe-4b2c-8adf-c370c00110be CAID:CA2649105995 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9315f8ab-575b-464e-b31c-6271b8968ba4 CAID:CA2649105995 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2effef04-9fad-407f-95ce-ad5e869cdf39 CLINVAR:99343 biolink:genetically_associated_with MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3298afee-b145-4453-be2d-762b69c3d98d CLINVAR:99343 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a48f18fa-f125-4dfe-8517-bd522e69a676 CLINVAR:99476 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6b651454-385b-452b-ad1d-21baba890b4c CLINVAR:99476 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f1db1b02-6e62-46ff-96ec-dc7fd3fcedf9 CLINVAR:650634 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3ab320e4-fb84-45b9-a4b2-25eca526d096 CLINVAR:650634 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1f0a9275-b983-4e31-b286-dfef27d6822f CLINVAR:501312 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 53c90cf7-09b0-46d5-9de5-2ef60366703d CLINVAR:501312 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 647cb099-1568-4be9-9610-11b8d479214e CLINVAR:14210 biolink:causes MONDO:0009595 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen efa6ea87-017a-4847-900f-a8c1a570dae4 CLINVAR:14210 biolink:is_sequence_variant_of HGNC:10031 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 591c3f8d-43d1-4b4d-83a7-f885fb914147 CLINVAR:1683999 biolink:associated_with_increased_likelihood_of MONDO:0015628 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 38bfb740-ba7e-416e-8e3e-c38f9fe2afb3 CLINVAR:1683999 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 459fc6a9-c35a-4979-b856-e6f2d41f0a66 CAID:CA2580612114 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ca343b15-faf5-497f-a1d0-c7588441e4aa CAID:CA2580612114 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 06aa0ba1-9fc9-46cb-b446-522d7ab6d79b CLINVAR:585928 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 725b3a5e-fcf3-4d84-b19d-a782697ab5d0 CLINVAR:585928 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fd3ab6d3-83e0-4d74-9ffe-a3a496e9a326 CLINVAR:3766052 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 219e60fa-5db4-4822-a57c-c49fa1060261 CLINVAR:3766052 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 79728e8b-81f1-44cb-9317-c13738dc0923 CLINVAR:2136531 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 80371a8b-43c2-45a2-892a-f655346e1a3c CLINVAR:2136531 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 85e4b5ee-8748-48e0-ba29-3a246abbcea1 CLINVAR:447422 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen cd0e6146-aad5-49ca-89d0-b6829fdbd6d5 CLINVAR:447422 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8dfc8885-b444-4711-a6a0-28a5fbbe44e2 CLINVAR:1720715 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8a3c497b-45e7-423b-83a6-694785e36cb6 CLINVAR:1720715 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cd2b6c1e-3ad6-46ba-aa20-28f0894f9ff4 CLINVAR:2202780 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5582b14c-0b20-47db-ba44-37bbff2c5af8 CLINVAR:2202780 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 74c149a5-1762-4ced-bc24-0ee6d7a95929 CLINVAR:2202779 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 64b7d9df-b04e-4cf1-ba27-28988c5ff64c CLINVAR:2202779 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0985f77c-a88a-4a49-8917-b82e7343ea7e CLINVAR:1048145 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7ab46fcd-4173-4f05-bf53-43f232161dc7 CLINVAR:1048145 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d5472f7f-7b42-44f2-97a5-15b4a7e18c97 CLINVAR:99472 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 00fb3f3c-ec7e-47c0-b4fc-6076be7755cf CLINVAR:99472 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a690ae80-59f9-4cf2-b40d-68502e04beb3 CLINVAR:1457683 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b1eb93e3-4dae-4ea8-bf9b-d3ea89b1950e CLINVAR:1457683 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0e04e0a2-8fb2-41aa-8790-2b045004a4a5 CLINVAR:1999524 biolink:genetically_associated_with MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen cd93438f-b095-4aae-9205-fa83d465f482 CLINVAR:1999524 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8a358428-f941-495a-816f-f94f9b2a24a3 CLINVAR:99428 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3cf65e7f-f9f8-4c48-8df5-51a4379f54bf CLINVAR:99428 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 736d274b-88a4-4dae-bbc9-7087279615d5 CLINVAR:18029 biolink:causes MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d022e583-35aa-4c05-af5c-811b46a4bec9 CLINVAR:18029 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f66d7876-833c-4a6a-92af-71376ecc6e8c CLINVAR:2429353 biolink:causes MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen abf3d267-f527-4797-9081-3fd7ce1f6699 CLINVAR:2429353 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0456af04-fcbd-46ce-95b7-677a8b1ed1d2 CLINVAR:18041 biolink:genetically_associated_with MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a8897ad3-34cd-4079-92f3-4be154be1a42 CLINVAR:18041 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 77e4fece-9dca-4cfd-b504-8b68bdfebb29 CLINVAR:18023 biolink:causes MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a1bef600-3a44-44d0-9cce-48fb88233c4a CLINVAR:18023 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2963f2d0-9b4c-43cd-a90f-5fa457ea43b1 CLINVAR:1028786 biolink:genetically_associated_with MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 711e436d-2be1-466c-9ecb-9919e2d39d36 CLINVAR:1028786 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0f6e6d82-ecdc-4db0-bffd-cb29821958ce CLINVAR:661362 biolink:causes MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3612b50d-a089-4525-8ff4-dc866e944eb0 CLINVAR:661362 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 88dbce29-72bb-4f87-b2cc-8f3d6112a2eb CLINVAR:618107 biolink:associated_with_increased_likelihood_of MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f3f0a1cf-08dc-41e5-9dce-9bb0d80552cb CLINVAR:618107 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6133e50d-5ce9-4959-ad1f-ef0030f3046d CLINVAR:627155 biolink:causes MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 18a0677a-8400-47e4-81cf-53bd204f0c20 CLINVAR:627155 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 254aaa48-f1c0-476f-854b-dcfc4dac4073 CLINVAR:102486 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen af5c7579-cc38-411b-b461-7cd390cb8521 CLINVAR:102486 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9a6a714e-cdb1-41c3-af7a-c5770fe4ce88 CLINVAR:458078 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4070ddd9-01d5-49b4-b121-e93e7a7b1afa CLINVAR:458078 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0078235c-0a56-41ef-86fb-2bcf2eddcc3a CLINVAR:590456 biolink:associated_with_increased_likelihood_of MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 45a53d6a-2919-4b4e-8b3b-13fb2c565dca CLINVAR:590456 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c2809b73-d1aa-4744-ad3b-bd8b0c881c71 CAID:CA2584893460 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9bce98ca-da06-46b6-b333-e7667e01d17c CAID:CA2584893460 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8c43d52f-19aa-4849-ab10-58e89cc8c769 CLINVAR:2903463 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7c63ee95-7378-4c23-9529-4f1ee5243b7c CLINVAR:2903463 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 437ab6a5-a634-4a5d-835e-94f2316672ef CLINVAR:557150 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen cc62437b-629b-44d2-a1b5-fca16ad7b59c CLINVAR:557150 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 120a040c-1978-4bbb-9e9f-f40392284183 CLINVAR:556156 biolink:associated_with_increased_likelihood_of MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9f0d66ce-a4aa-4f58-95cf-05256631a885 CLINVAR:556156 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fd4ebbef-d5a5-43ee-bc84-5fd0cad26b98 CLINVAR:1076379 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c111acce-b440-455b-af5c-dc1ad52727d4 CLINVAR:1076379 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 857b015d-7fa6-42db-9023-60c6fe757150 CLINVAR:554213 biolink:genetically_associated_with MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen deb39a94-7092-4c7d-80db-7bcd6efa96a2 CLINVAR:554213 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 315591e0-a453-43aa-b7b0-6c37d920838c CLINVAR:550458 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 76ccb4b6-8d0e-4ae8-bc72-4d660e2177fc CLINVAR:550458 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 674e3671-82df-4f33-b7fb-120c1a5bf705 CLINVAR:556184 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen bac93b8a-7f61-4b21-b40f-5df4b1ba6fa4 CLINVAR:556184 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 449a49b1-b427-4c48-8f2a-629700c41334 CLINVAR:440660 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5bc07d9d-8e52-4046-aff1-ad92c18f8527 CLINVAR:440660 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f987269c-6407-4fe8-9a6c-5f2909b4973d CLINVAR:440604 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d0650beb-ef08-4925-836c-69df3d29af4f CLINVAR:440604 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 25f9fedc-215f-4c9d-b4f2-8553e74f41fb CAID:CA3050953909 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 84d5b20d-cc47-48d4-ab2c-94b6613fc5e3 CAID:CA3050953909 biolink:is_sequence_variant_of HGNC:4439 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a0ee90c9-1e82-44b0-83cf-a82b1a73d2cb CAID:CA8314879 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e5e16c59-2a91-4f9c-8421-b54ae693633d CAID:CA8314879 biolink:is_sequence_variant_of HGNC:4439 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 695a64ea-4f01-451c-9cf6-98cf89d59cb3 CLINVAR:4151 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e7145fe7-304a-4b69-bf97-e9c5495646ae CLINVAR:4151 biolink:is_sequence_variant_of HGNC:4439 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5dd3fc02-5503-47f1-99f9-4c6b0fa425fe CAID:CA2580610935 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 66edb5e9-08d5-4c22-999a-58fc8bfbd941 CAID:CA2580610935 biolink:is_sequence_variant_of HGNC:4439 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 72797cde-f1c8-4c0a-87bd-0b8b209e2cb5 CLINVAR:993015 biolink:genetically_associated_with MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 64a24e0a-31a7-45d6-b410-3eac05ac1800 CLINVAR:993015 biolink:is_sequence_variant_of HGNC:4444 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 832edefe-f880-4fe0-b70a-bb02ee4afeb2 CAID:CA354450038 biolink:genetically_associated_with MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 18a433e5-0ac2-4cc1-8d1d-35c5a2e128b7 CAID:CA354450038 biolink:is_sequence_variant_of HGNC:4444 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2e6682bb-b6c4-4ffc-8211-fb3c730077ed CLINVAR:627039 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 627bac12-d869-403a-bc88-8962aae35cbb CLINVAR:627039 biolink:is_sequence_variant_of HGNC:4440 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4733353d-e439-4ffe-ac87-a9bd714c0a67 CLINVAR:13531 biolink:causes MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3cf52033-444a-482c-b5de-6f32c0ec95c1 CLINVAR:13531 biolink:is_sequence_variant_of HGNC:4444 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0117025d-1078-4342-b1c3-0a3a1641deb5 CLINVAR:4687494 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c4789413-9628-407e-a37b-ad7ff11c3104 CLINVAR:4687494 biolink:is_sequence_variant_of HGNC:4444 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3933faea-1c9b-4631-a8ce-7c4abc0c6554 CLINVAR:52448 biolink:genetically_associated_with MONDO:0700269 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ef208283-9dc6-49bc-8c04-28285701182d CLINVAR:52448 biolink:is_sequence_variant_of HGNC:1101 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d49790c6-18fb-4a56-ada0-e1582b7c11f9 CLINVAR:55433 biolink:genetically_associated_with MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4289c2ac-2459-4c79-b9b9-d5924da08f2c CLINVAR:55433 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 45ee0d21-0a4c-495a-ab44-1d39a3a9235f CLINVAR:232793 biolink:associated_with_increased_likelihood_of MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 86324443-2985-4701-95da-cfcc8888869e CLINVAR:232793 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fc4fbb50-af97-400f-8eb5-7023fce949fc CLINVAR:3723841 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 68c98d60-b21e-4cb9-b926-4572c7a13f02 CLINVAR:3723841 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f39f4323-a7ba-4769-abc0-5bd82a7bed33 CLINVAR:36227 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 422ad6e1-54da-4325-9075-e9ecd86dde8d CLINVAR:36227 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 40b6e4a5-7313-4aba-9f43-6cffbc48ca13 CAID:CA367401653 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d8f99704-1b56-428f-9e3f-456f4b9ede81 CAID:CA367401653 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fe1ab90c-a7c9-4ae6-b84b-f8489510c745 CAID:CA367401649 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a1362a2f-93eb-4d50-a497-73b954f17ae4 CAID:CA367401649 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 35344611-fa9c-4398-bb65-e3258165816c CLINVAR:972809 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3cad7a4c-b869-44ca-a4e1-f541081964d3 CLINVAR:972809 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b1dbc2bc-b350-46bf-9b90-43e09e544af0 CAID:CA4239675 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6039b824-126b-486e-8d6e-208902ba4d2b CAID:CA4239675 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c2f488f4-7f75-4f7d-a80c-65981bc73606 CLINVAR:447402 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3d5ba7d2-f91a-4a3a-9fef-ab9c84ce65f0 CLINVAR:447402 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 20444e88-99a7-4a81-a299-f940d4eac279 CLINVAR:418448 biolink:associated_with_increased_likelihood_of MONDO:0000572 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9187b042-ad68-4998-b451-99388afbb5db CLINVAR:418448 biolink:is_sequence_variant_of HGNC:9831 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 37d918be-39a2-4e3b-a60d-7ddc2123e85e CLINVAR:2709658 biolink:genetically_associated_with MONDO:0015974 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen af1a4778-22de-4983-89cb-c5d74daa7f10 CLINVAR:2709658 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d4f15cb0-b782-4a82-984e-96949f077f68 CLINVAR:1005573 biolink:genetically_associated_with MONDO:0100150 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5657116c-eba7-49b6-9ebb-fd89eddd1779 CLINVAR:1005573 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a40fd274-5232-430b-b398-10d6c5cad272 CLINVAR:65979 biolink:causes MONDO:0100150 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 370e91f8-75c0-4c71-9d9b-2e05ec33c495 CLINVAR:65979 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cc5656e2-39d7-4732-9e31-90b76ebc8f13 CLINVAR:329073 biolink:genetically_associated_with MONDO:0100150 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d4379e7c-3dba-4319-b73f-d42bc579759d CLINVAR:329073 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dfeed7fa-a7a3-4051-bc13-b6c0225d0663 CLINVAR:2035105 biolink:genetically_associated_with MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1e0fe570-dc8b-4b37-bb16-7bb3824e575e CLINVAR:2035105 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 63d08aec-83e2-4fdd-8014-ac8915873e8a CLINVAR:2865406 biolink:genetically_associated_with MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 711a031c-8a3c-4476-94fe-a6dd5145bad8 CLINVAR:2865406 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 432f87a9-3e8d-40e3-a765-72c66a4083fc CLINVAR:99219 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 30259760-629c-484d-9d8d-2062c34f995c CLINVAR:99219 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen df6d6a94-6dcd-4c34-adf0-6db5e24c3f5b CLINVAR:866229 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 87ab9793-17a6-4675-aec9-e279d79b42f3 CLINVAR:866229 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1aff2d12-5f1f-42e6-9f32-d075e6b498aa CLINVAR:1639209 biolink:genetically_associated_with MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4081ee48-8b57-4a75-9db6-ae65fe7ea1f9 CLINVAR:1639209 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 98c32f03-9506-4ca8-906a-be591c129faf CLINVAR:236129 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d88ae8b5-1b15-47be-8818-2409a2b3fac5 CLINVAR:236129 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a73718a4-defd-485e-8966-f17c59522720 CLINVAR:2664262 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen bb3495c8-b82d-478c-8a1c-3e0d8b2ee20b CLINVAR:2664262 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2ccb0de7-1864-44f0-a22e-6e46d041e77d CLINVAR:2151916 biolink:genetically_associated_with MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4945ffd9-13c4-4328-85dc-565feeb2bdff CLINVAR:2151916 biolink:is_sequence_variant_of HGNC:12601 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8fd907d3-f42a-4f77-9a16-8ae9262c060c CLINVAR:133098 biolink:associated_with_increased_likelihood_of MONDO:0100150 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8b0582a9-de6c-44ba-b1ba-06e31a5815a4 CLINVAR:133098 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1e3230ea-c60a-4bea-b8a7-f20852e583c4 CLINVAR:2440386 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 319e76f7-d42d-487b-bd5b-a89df77580c4 CLINVAR:2440386 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c5ce78af-4d6e-40dd-acbd-1b8435f40982 CLINVAR:52999 biolink:causes MONDO:0100316 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f0cc0e35-d1de-49da-8c93-4eebfd3a7620 CLINVAR:52999 biolink:is_sequence_variant_of HGNC:6294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2c271c9e-9e1c-474a-9ebf-047239b220f3 CLINVAR:517664 biolink:genetically_associated_with MONDO:0100316 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ed862f27-7929-4d21-8cab-f6c65ca5864c CLINVAR:517664 biolink:is_sequence_variant_of HGNC:6294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4e5a5380-f3fc-44d7-a28b-a5c2f5b31aa6 CLINVAR:635221 biolink:associated_with_increased_likelihood_of MONDO:0100316 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 116b1298-4e2d-4290-b4f8-0102223fe7fa CLINVAR:635221 biolink:is_sequence_variant_of HGNC:6294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 49058fe0-3f77-4a34-86a0-5f56b020c051 CLINVAR:53101 biolink:genetically_associated_with MONDO:0100316 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0df98899-6447-4d64-8959-8aadefd64763 CLINVAR:53101 biolink:is_sequence_variant_of HGNC:6294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c7d8ef64-41f3-4169-95b1-de8ad0e74144 CLINVAR:67087 biolink:genetically_associated_with MONDO:0100316 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen bdd9239d-ef7a-45ca-b52b-e2df1129d9f3 CLINVAR:67087 biolink:is_sequence_variant_of HGNC:6294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f0855245-ac46-475b-97b3-904054878b86 CLINVAR:52936 biolink:associated_with_increased_likelihood_of MONDO:0100316 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 32d64fd7-7cfd-4f2f-95e5-69a48530eea6 CLINVAR:52936 biolink:is_sequence_variant_of HGNC:6294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b8a15041-4bac-4e84-907e-c1a1c9395f74 CLINVAR:44587 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 87705634-c8e5-4c16-ae01-4a22f401908e CLINVAR:44587 biolink:is_sequence_variant_of HGNC:6840 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b5b7cb49-22e4-4733-b29a-de36eedeb167 CLINVAR:1723651 biolink:associated_with_increased_likelihood_of MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c7099f2b-d58c-42e6-ac76-70df7bc6ae98 CLINVAR:1723651 biolink:is_sequence_variant_of HGNC:6840 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8f59d4fc-b1bf-412f-9877-5f58e28a5995 CLINVAR:13343 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a76b4185-5162-4b46-a45a-421b207b8794 CLINVAR:13343 biolink:is_sequence_variant_of HGNC:9644 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8d7c856d-61e2-44ef-a33c-c9c063a4d97f CLINVAR:13342 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen fc69aa88-796c-4079-a6b7-f42712201bf0 CLINVAR:13342 biolink:is_sequence_variant_of HGNC:9644 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 25e0a6b8-389c-4784-a0ff-14e7929fe161 CLINVAR:560190 biolink:genetically_associated_with MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ea67013f-5e34-4b1e-be94-318cbe3f8bb8 CLINVAR:560190 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8a1e0eec-43a1-4984-a156-c3b1ed7af968 CLINVAR:2229884 biolink:causes MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 61fc0e8f-4c7e-4bd6-8972-19ef7e70fe05 CLINVAR:2229884 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cdb177dc-efb7-49ec-abe3-864137cc31f5 CAID:CA2580612246 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c4fb0352-4442-4069-9871-c5ecf4ce05ba CAID:CA2580612246 biolink:is_sequence_variant_of HGNC:4439 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 114143c6-934e-43de-8968-c6d2ed15f799 CAID:CA410676362 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8ce6c0eb-86ac-48f4-a50c-912ff3b97a4a CAID:CA410676362 biolink:is_sequence_variant_of HGNC:4440 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c831cd4a-ad5d-49bc-a1b5-287a260e65a5 CAID:CA2695224137 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen bfd90bca-6bbc-4e0b-964b-e0738c284ec7 CAID:CA2695224137 biolink:is_sequence_variant_of HGNC:4439 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6eb2540d-696a-4cda-9d96-458f82cc3452 CAID:CA410676379 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 094a555d-6df7-414a-8e58-a411f2750f11 CAID:CA410676379 biolink:is_sequence_variant_of HGNC:4440 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fa12b8e5-5db7-45dc-8dd6-cf0ef4e1a7b8 CAID:CA410676935 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4d91a143-8c33-4ce2-94af-e4586099c098 CAID:CA410676935 biolink:is_sequence_variant_of HGNC:4440 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ba064787-d0b7-4693-9c36-4876c519367b CAID:CA410676943 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 45c6c5df-69d6-403b-841e-f211d0ee9269 CAID:CA410676943 biolink:is_sequence_variant_of HGNC:4440 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a134ade7-15d2-4d52-bf49-05877c37404b CAID:CA410677044 biolink:genetically_associated_with MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2ba2e2c2-93b0-4175-9755-689344b4afec CAID:CA410677044 biolink:is_sequence_variant_of HGNC:4440 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 796c47a9-ee1f-44b3-b23a-b765939751ce CAID:CA354447926 biolink:genetically_associated_with MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 70095485-6f54-4a04-aaea-00948df7bd21 CAID:CA354447926 biolink:is_sequence_variant_of HGNC:4444 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b8bc8995-b6a8-42e5-98cd-02985a3f0bc0 CAID:CA8314714 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 90b8ce86-c596-4bf6-a4a5-7223808e61ef CAID:CA8314714 biolink:is_sequence_variant_of HGNC:4439 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8ed70bdd-a54e-4238-8bd7-6099933cb1e0 CLINVAR:2570683 biolink:causes MONDO:0100062 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 028c2db4-ff96-4364-ae3c-10c9e34eea1b CLINVAR:2570683 biolink:is_sequence_variant_of HGNC:10590 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 926e2ff0-1caa-4af5-b350-227ed89afa30 CLINVAR:1330694 biolink:genetically_associated_with MONDO:0015628 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 854feed6-97e0-4da4-b945-b7de06bb4da0 CLINVAR:1330694 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3dd3c0cc-2486-43db-994f-d9f0ef115aa5 CLINVAR:993126 biolink:genetically_associated_with MONDO:0019565 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e2ce47e0-3547-4c80-a4ff-79ea7006bbaa CLINVAR:993126 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aac7e397-8434-4f0d-b806-6fceb3216df8 CLINVAR:801294 biolink:genetically_associated_with MONDO:0019565 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 058fa07b-79f2-42a7-b757-f70741f66d63 CLINVAR:801294 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 144382c8-bf76-45d7-a3c2-503b74ce3058 CLINVAR:36294 biolink:genetically_associated_with MONDO:0013517 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8de206e0-579c-4a6b-be2c-19c74e6fbad1 CLINVAR:36294 biolink:is_sequence_variant_of HGNC:4827 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen be667145-bea8-42c2-9558-29335f43ad5b CLINVAR:869245 biolink:genetically_associated_with MONDO:0013517 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6e32945b-fea9-46fa-88b7-a41ee8c2e159 CLINVAR:869245 biolink:is_sequence_variant_of HGNC:4827 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d792a4c9-61bb-4258-9504-276798a94578 CLINVAR:15447 biolink:causes MONDO:0013517 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 21b9b4fc-273a-42de-acea-cb3710f9313e CLINVAR:15447 biolink:is_sequence_variant_of HGNC:4827 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 97526a65-bc34-462a-b221-2bea8068bc8c CLINVAR:15488 biolink:causes MONDO:0013517 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b4325b69-bf2b-4807-94a4-3ac6ec24244e CLINVAR:15488 biolink:is_sequence_variant_of HGNC:4827 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 98091e20-46aa-4531-8653-a97e62a9b4b2 CLINVAR:15401 biolink:causes MONDO:0013517 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 14f18c1a-3061-4427-8955-bc7404b0f2ae CLINVAR:15401 biolink:is_sequence_variant_of HGNC:4827 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 36fd72c1-68a9-41a6-b8a7-ec3811e58c41 CLINVAR:799593 biolink:genetically_associated_with MONDO:0013517 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e51e0e85-1954-4d81-9a91-49eb4f2be306 CLINVAR:799593 biolink:is_sequence_variant_of HGNC:4827 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dea2d491-b679-4624-b3a6-c320987afdab CLINVAR:36312 biolink:causes MONDO:0013517 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 18cf0a18-a04c-4c30-aca1-fd4e5dcb81d4 CLINVAR:36312 biolink:is_sequence_variant_of HGNC:4827 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 00959131-aced-4295-997a-1688e404de99 CLINVAR:15464 biolink:causes MONDO:0013517 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6a008d61-cf1f-4448-906c-76d008e4b290 CLINVAR:15464 biolink:is_sequence_variant_of HGNC:4827 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d3e131b5-43bf-4a61-8c61-2488b84f749f CLINVAR:15458 biolink:causes MONDO:0013517 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ce8dba4b-a489-4f37-909f-d6dbbf327bf6 CLINVAR:15458 biolink:is_sequence_variant_of HGNC:4827 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 35a09fda-002f-4552-b385-80f886a908a2 CLINVAR:15483 biolink:genetically_associated_with MONDO:0013517 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a4e0464a-aa27-43f5-a262-49d359655ec2 CLINVAR:15483 biolink:is_sequence_variant_of HGNC:4827 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4f61c09d-12c0-4ad9-98ed-0d6c77b90ed3 CLINVAR:15457 biolink:causes MONDO:0013517 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 84634162-8e48-4e26-aa0f-37e4d5725477 CLINVAR:15457 biolink:is_sequence_variant_of HGNC:4827 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b7955468-6dda-4483-b8cf-a9e1655b76e0 CLINVAR:15454 biolink:causes MONDO:0013517 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4e0d0567-c9f9-43b6-9b4a-58a661abc43a CLINVAR:15454 biolink:is_sequence_variant_of HGNC:4827 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0326a289-d2f2-47b6-9787-3f68b38d4d9e CLINVAR:15405 biolink:causes MONDO:0013517 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6137c7df-0163-4f36-b9d0-95d18f0e4d53 CLINVAR:15405 biolink:is_sequence_variant_of HGNC:4827 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 17339b34-e614-49dc-8553-211ece5c6aa5 CLINVAR:15239 biolink:causes MONDO:0013517 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 905e85be-1759-4f38-9aca-da4da8c9c87e CLINVAR:15239 biolink:is_sequence_variant_of HGNC:4827 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d7f9c4d7-6341-446e-b32d-ab592f1ce3bf CLINVAR:15470 biolink:causes MONDO:0013517 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 02f1a982-ec11-4dd6-be18-8b310ebf4542 CLINVAR:15470 biolink:is_sequence_variant_of HGNC:4827 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f19fc088-f71d-4fd7-ae46-4498bd116724 CLINVAR:1684030 biolink:genetically_associated_with MONDO:0015628 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 835b3f8f-ab6e-47a8-80e4-c279b486db5a CLINVAR:1684030 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 333b1c21-26f6-4803-a021-a1a3111d7611 CLINVAR:100409 biolink:genetically_associated_with MONDO:0015628 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8a3d3a96-1848-4846-b9c7-2c1e15536f9b CLINVAR:100409 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2545b31b-4407-4727-ada0-3d9e81910d4a CLINVAR:507028 biolink:genetically_associated_with MONDO:0019565 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6adda868-f80a-44a7-9e94-d727bcf98411 CLINVAR:507028 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7a39a918-d03b-47d1-81d3-f6a21df9cff0 CLINVAR:15692 biolink:causes MONDO:0100562 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c6b10b73-d543-44ba-84e2-5d9fbbadc48f CLINVAR:15692 biolink:is_sequence_variant_of HGNC:4824 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c315fa58-6cb0-41d6-b127-5dcb629ce347 CLINVAR:15624 biolink:causes MONDO:0100562 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 23a524f8-7089-412f-b12b-4a9a1a4691da CLINVAR:15624 biolink:is_sequence_variant_of HGNC:4824 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b5940651-abb0-4c82-aee2-63bdbe6b94cd CLINVAR:804215 biolink:associated_with_increased_likelihood_of MONDO:0100562 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 72677dbc-1bfa-48dd-b06b-0f7ebb276bee CLINVAR:804215 biolink:is_sequence_variant_of HGNC:4824 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3d59a4c1-7300-4f4a-b55b-8d4090939c25 CLINVAR:439112 biolink:causes MONDO:0100562 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f7569c2a-d21c-4c52-aa14-699202ddc073 CLINVAR:439112 biolink:is_sequence_variant_of HGNC:4824 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a62cf532-107f-4951-9b8a-44c0f381e23c CLINVAR:15647 biolink:causes MONDO:0100562 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f6621a1d-26fb-44da-8c33-dedbef23f5e9 CLINVAR:15647 biolink:is_sequence_variant_of HGNC:4824 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9bf1355c-5df7-42ad-83b8-80fcad43787c CLINVAR:439111 biolink:genetically_associated_with MONDO:0100562 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1ac5ba74-e7c7-4572-8247-d6c05057c665 CLINVAR:439111 biolink:is_sequence_variant_of HGNC:4824 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dea39181-9f46-4569-ae98-df26200455bd CLINVAR:869219 biolink:genetically_associated_with MONDO:0100562 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a39723a3-ebc1-4902-b021-27d484fa7555 CLINVAR:869219 biolink:is_sequence_variant_of HGNC:4824 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 53977ea5-cb87-4bea-96e0-d201a674d04d CLINVAR:15651 biolink:causes MONDO:0100562 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f72f8875-2036-4858-bbeb-89d73a7ac0db CLINVAR:15651 biolink:is_sequence_variant_of HGNC:4824 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 974aa436-3ead-4faf-9b8b-a62dc238d51b CLINVAR:375746 biolink:causes MONDO:0100562 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen fdf9dc2e-c116-4db1-9314-2fabdabe5ca4 CLINVAR:375746 biolink:is_sequence_variant_of HGNC:4824 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a258a61a-2289-4595-acab-ee3685703288 CLINVAR:15690 biolink:associated_with_increased_likelihood_of MONDO:0100562 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6eebc485-3144-41d3-b4ac-07a7142833a5 CLINVAR:15690 biolink:is_sequence_variant_of HGNC:4824 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a4286b00-5b61-4d4e-a9c9-0efb862db025 CLINVAR:1209788 biolink:genetically_associated_with MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen dae0ec89-3ae4-4360-a51d-1e53813b4d73 CLINVAR:1209788 biolink:is_sequence_variant_of HGNC:10809 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0fdf99b5-a759-49f3-a3e2-f1112d8c032c CLINVAR:2675763 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 17329fa6-85d1-4d65-8c02-a8926fa95c11 CLINVAR:2675763 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 216777e4-5ed5-4e20-bd5d-0de9e1ee4a7b CLINVAR:4032 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d0f10566-6da3-4e46-bd34-22a0c4e2385e CLINVAR:4032 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6fd868e4-6f44-4bbc-a48a-dea0e66bc7b6 CLINVAR:370483 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6023c33f-1e53-4e8b-bd49-b9c49573ecd8 CLINVAR:370483 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7b026806-6ad8-4d58-b2e7-9fcc5e161fd7 CLINVAR:1190471 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7319fe34-1785-4c36-ad18-e18d72285ade CLINVAR:1190471 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b3c79841-5a1e-4269-82ae-b1beafe5ed5c CLINVAR:140553 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a8b4a302-f6cc-40ca-9eff-73b8154e393d CLINVAR:140553 biolink:is_sequence_variant_of HGNC:27337 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 41addb62-21f8-4f90-be4c-2a493c619fa9 CLINVAR:1323589 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen bfb90afc-21a0-4ea4-ba41-5813f88cfbfb CLINVAR:1323589 biolink:is_sequence_variant_of HGNC:10809 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0413a118-f5e3-4e3e-ab75-a486fb8193bd CLINVAR:283179 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 26230463-edcd-4e91-9ce5-baabd10aae30 CLINVAR:283179 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2cf37265-e339-4cb2-a4c1-4d72d94c1934 CLINVAR:284122 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen bb7c05bd-e5bd-4b57-b3a0-bb2ca9e475f9 CLINVAR:284122 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e509fac8-a6bd-4ca3-b255-26d1b9ed3377 CLINVAR:285927 biolink:genetically_associated_with MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 41857af2-58e3-44c1-add0-cddadca02ea2 CLINVAR:285927 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 055ed4ee-b432-42e4-9431-05e0bc05ee74 CLINVAR:92407 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1beaffea-55de-4304-a9a8-617ce1967ff4 CLINVAR:92407 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aa71448e-3640-4852-8cac-b53382bf51e5 CLINVAR:92414 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 07b29995-dbfd-4f5c-9573-601818aad669 CLINVAR:92414 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 61b31853-4c6e-459a-927e-ad10a3eabd4d CLINVAR:869485 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 289c875f-c9fe-4eae-866f-26ec9ac08c03 CLINVAR:869485 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9cbb0c29-bafe-4d4c-a5a3-55159f8cf4ab CLINVAR:2165 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d98ddb1b-b787-48ff-8504-f483a540b28d CLINVAR:2165 biolink:is_sequence_variant_of HGNC:27337 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 24881d33-45e3-4dc8-9279-b7a1eaccf539 CLINVAR:197403 biolink:genetically_associated_with MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d9461a3f-3d69-4d0c-af29-b9bc750aac7e CLINVAR:197403 biolink:is_sequence_variant_of HGNC:27337 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c5c07ec3-4794-4e66-a4f0-7b828db210bb CLINVAR:92405 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen cfdafc6d-2869-4c4d-934d-aeef98894fd8 CLINVAR:92405 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8cf4096c-34f4-494b-b007-2a1769f9e5bd CLINVAR:96685 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8314790d-4d40-48fd-8b13-561f9d9fb32e CLINVAR:96685 biolink:is_sequence_variant_of HGNC:27337 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 01215a49-1a1d-484d-b6d3-1effb151e8d2 CLINVAR:282681 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7bc4ecf1-cfb2-4598-8e04-ffc9a06b685c CLINVAR:282681 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8fe92dd1-c0f3-4542-9777-fa0d32be1ca6 CLINVAR:652571 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8320d81b-44ce-4cbb-91f8-2ae7452481b5 CLINVAR:652571 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b468e031-8f27-4c4b-84b8-2e68bb33b821 CLINVAR:1180840 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c530e37a-2de3-4a08-8afd-fc2f82daf76b CLINVAR:1180840 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 69785299-9679-4d39-9e9d-435352234738 CLINVAR:210563 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 58768941-1006-426c-b9b5-35d6b0d6b2c9 CLINVAR:210563 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fd79df3d-063f-441c-8e45-159dcba264b7 CLINVAR:128570 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen de89113b-b2cf-49a5-be10-0db839bbbadd CLINVAR:128570 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aa7d280e-1829-406e-a393-44498b85a699 CLINVAR:1407049 biolink:genetically_associated_with MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8777d6cf-1c52-4ba0-baa4-a0919394960f CLINVAR:1407049 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 77d7a10d-a202-411a-9247-ac38d3ffb8bc CLINVAR:233573 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4da30f7c-cb47-4815-8b17-5a609c980ece CLINVAR:233573 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f584775e-8a24-4307-8507-4938d52a162a CLINVAR:3047 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen cf38f814-80b1-4ac9-b2a4-e5deabd466ed CLINVAR:3047 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cdab6450-525d-41e6-8871-ac12863d53c7 CLINVAR:644144 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 930fa193-957c-4e14-b742-d4e1e5f5e78f CLINVAR:644144 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e7787443-c7f2-4839-bfc9-907c8a7bb9e7 CLINVAR:490724 biolink:genetically_associated_with MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fff858b9-9f5c-436d-9303-25f567db4857 CLINVAR:490724 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9ee95fb0-55c8-49a1-805d-c54188eb8afb CLINVAR:870645 biolink:associated_with_increased_likelihood_of MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3565ab9c-c189-418b-9359-bf8d63007a67 CLINVAR:870645 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 02904a24-c611-4840-85b8-ea1b11c72013 CLINVAR:1054111 biolink:associated_with_increased_likelihood_of MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7ebbfb20-eebe-41e6-b9e3-b15787d4a716 CLINVAR:1054111 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ffab6ffc-0866-4890-add4-9ab1bc59cc7c CLINVAR:187501 biolink:associated_with_increased_likelihood_of MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 567d04fd-2c29-4ed6-a1bd-3f131ffe4598 CLINVAR:187501 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 01fbeea9-8b9e-4228-87bc-e518bc2241cd CLINVAR:490685 biolink:genetically_associated_with MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e9e0bc07-758b-4583-aa68-8b49a941a3ce CLINVAR:490685 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 46c80043-1887-4dda-ab0b-b1d22675ea22 CLINVAR:230152 biolink:genetically_associated_with MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4c495cd0-4784-4eac-a932-f82237b7121c CLINVAR:230152 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4f203569-e44f-4ca9-9a03-2664cbb46470 CLINVAR:219787 biolink:genetically_associated_with MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d974f90b-ffd0-40c8-9909-2f3b9b2172c6 CLINVAR:219787 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c3c03369-2a25-4a73-b9b6-926c97937ad2 CLINVAR:453684 biolink:associated_with_increased_likelihood_of MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5f544185-29d1-42c9-8b4f-ab9c2592367f CLINVAR:453684 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ac714541-26c4-4010-b3e5-f78a3ecf1737 CLINVAR:140823 biolink:associated_with_increased_likelihood_of MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ee806911-354e-4dad-b562-00b87ec69021 CLINVAR:140823 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dbf10e97-0aeb-4d19-aa82-bccfbddfa734 CLINVAR:407464 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 641582c7-8f00-4ccd-a2cb-20c46fd7c718 CLINVAR:407464 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7991d179-7961-46a9-8bda-ca3ea54dea72 CLINVAR:3148196 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b0dbe752-0bcc-46ca-9af5-2a8f9959f723 CLINVAR:3148196 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7023adaa-c5c4-481d-8b5d-46457f2e8378 CLINVAR:1488412 biolink:genetically_associated_with MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1a7fc469-e234-42c1-b0a1-2af251619f58 CLINVAR:1488412 biolink:is_sequence_variant_of HGNC:27337 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4f0d4287-e99f-4098-b03d-a630d3edf18a CLINVAR:304110 biolink:genetically_associated_with MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8dca2b3c-efd1-4620-b735-b3ff1eb5af8f CLINVAR:304110 biolink:is_sequence_variant_of HGNC:27337 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1f468b0e-f8d2-4221-95bb-9fc054ac986d CLINVAR:497131 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen fd4d5a40-c657-48f7-9087-632c9eeab605 CLINVAR:497131 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 316f021c-1c9b-4ea4-be35-9d7ec588bad8 CLINVAR:3677022 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ccde3c9f-7640-48ce-a6da-e24788d8c1e7 CLINVAR:3677022 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cf4cb040-1a60-4e44-a2b5-1fd034bfca86 CLINVAR:94355 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ed2bc406-f7ac-4baa-8311-7ca1717bed76 CLINVAR:94355 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9058c3ef-56e0-4776-ac0e-bbeef0d7923e CAID:CA414435987 biolink:causes MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e16bd587-d6c1-4081-9b47-922ac0d614d7 CAID:CA414435987 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 746a6534-9624-4b1c-9230-2d63baa81cf2 CAID:CA414435980 biolink:associated_with_increased_likelihood_of MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen bb4d2965-4dd1-4d00-9c67-23a773bf5b63 CAID:CA414435980 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 21f0f2d0-1100-4316-ab46-4d06ac9e011d CLINVAR:618643 biolink:associated_with_increased_likelihood_of MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen fe2b63e0-5dd9-4d22-823f-e7df5f3fe221 CLINVAR:618643 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen daa97b9a-8917-48ec-adc2-efae31a7e3c8 CLINVAR:425730 biolink:associated_with_increased_likelihood_of MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6c1c6a0a-61cb-479a-beb4-656bf8179c93 CLINVAR:425730 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2706b28e-2a17-4947-88b2-ed93bd5aea52 CLINVAR:425732 biolink:associated_with_increased_likelihood_of MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e14d679a-848b-4031-b36c-04a5fb7dbd09 CLINVAR:425732 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a666d6bd-c1e9-4d72-9dee-4e513966695a CLINVAR:1163208 biolink:associated_with_increased_likelihood_of MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b47f3c2c-8deb-4b01-9f03-84d721c46afb CLINVAR:1163208 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 47d6c54e-df90-4b4a-b8e9-5ba814a0d1f1 CAID:CA414435594 biolink:causes MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 451569e0-2a68-43d5-b678-9f337fc3114c CAID:CA414435594 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9ef609b8-7ac0-4331-959e-287cdf8bb67a CAID:CA10567758 biolink:causes MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen acd989c3-11b8-44fd-8820-1d38e6c1f933 CAID:CA10567758 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 71985c6d-6cf2-4c37-a4de-85f7b6784272 CLINVAR:627400 biolink:associated_with_increased_likelihood_of MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 15fad802-69c8-4c61-882d-aea9c1a90b68 CLINVAR:627400 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b1fb3329-b271-4462-b951-738a0b57b919 CLINVAR:548686 biolink:associated_with_increased_likelihood_of MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9cf18db5-e543-4de5-a1dd-6605aa513778 CLINVAR:548686 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 23ca2430-461c-4f53-b1d1-51aef4d47070 CLINVAR:1164394 biolink:genetically_associated_with MONDO:0018544 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen edee8432-47c2-43ed-9c56-401aa7301a57 CLINVAR:1164394 biolink:is_sequence_variant_of HGNC:61 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2224a2f2-c643-4287-ae0f-b32e4e608245 CLINVAR:11317 biolink:associated_with_increased_likelihood_of MONDO:0018544 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c8c38ab4-7b72-4574-b49f-caf8fe561acc CLINVAR:11317 biolink:is_sequence_variant_of HGNC:61 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b93eca7c-1145-4dd5-afef-fdf7c298cf2f CLINVAR:92325 biolink:associated_with_increased_likelihood_of MONDO:0018544 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7f50aab2-37aa-43c1-81d8-58b1f35cb78a CLINVAR:92325 biolink:is_sequence_variant_of HGNC:61 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f04ff0e8-278e-494c-8d51-28ee0288719d CLINVAR:218422 biolink:causes MONDO:0018544 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen fc58410e-5f97-4cc7-a24c-075720c9d753 CLINVAR:218422 biolink:is_sequence_variant_of HGNC:61 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f9cf0c07-8dab-43d2-8138-f2dc6ed5db0e CAID:CA386295701 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 987c8a21-e950-480a-9875-883a8bffac7b CAID:CA386295701 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 93d93a13-116c-4bba-a612-e6338892a3a6 CLINVAR:583 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 91e1c79a-0664-4f29-b511-4b21e40dab85 CLINVAR:583 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 14dfaadb-0ca8-44f7-b2aa-778c0d21bfc4 CLINVAR:1504560 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a6f48036-f127-45d9-96c9-8e22c864b316 CLINVAR:1504560 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 901951f8-b3f1-4995-9c78-4f223635135d CLINVAR:449353 biolink:associated_with_increased_likelihood_of MONDO:0018544 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6805970c-9169-46b2-9eac-318540309073 CLINVAR:449353 biolink:is_sequence_variant_of HGNC:61 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0487891f-f608-44ca-bc13-3df37ac01bb4 CLINVAR:665836 biolink:associated_with_increased_likelihood_of MONDO:0018544 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8bbac438-f85f-4b98-a1d4-b6578548c111 CLINVAR:665836 biolink:is_sequence_variant_of HGNC:61 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 03098980-6805-404c-89a3-4036f9b7f3d7 CAID:CA415098539 biolink:associated_with_increased_likelihood_of MONDO:0018544 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1d508fff-7fdd-492d-9c8f-465d54b710ab CAID:CA415098539 biolink:is_sequence_variant_of HGNC:61 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b53c93dd-0b29-4102-accc-3e0e81549388 CAID:CA415099400 biolink:associated_with_increased_likelihood_of MONDO:0018544 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8e0d2c28-4c9f-421e-94be-dc2bd05992f1 CAID:CA415099400 biolink:is_sequence_variant_of HGNC:61 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 245ce21f-32f0-4f0e-9f3b-2f95702e2d0e CAID:CA415100409 biolink:associated_with_increased_likelihood_of MONDO:0018544 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 69b51501-9141-4418-9dd3-a079180460c7 CAID:CA415100409 biolink:is_sequence_variant_of HGNC:61 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2630ffab-68f9-4b1c-bc9e-686bdcd10173 CLINVAR:930240 biolink:associated_with_increased_likelihood_of MONDO:0018544 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f43a1be1-2186-494e-ae8b-13cd9af7278b CLINVAR:930240 biolink:is_sequence_variant_of HGNC:61 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 986fa97d-e219-461b-8ee4-718361abf5e0 CLINVAR:11310 biolink:causes MONDO:0018544 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 70597f7d-d3b4-45d3-b675-86e22c836d57 CLINVAR:11310 biolink:is_sequence_variant_of HGNC:61 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 56bfc4c7-b234-472b-8fb2-1fb23957321a CLINVAR:11312 biolink:causes MONDO:0018544 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 00cecfa2-32da-4142-9b97-2df5aa04cd39 CLINVAR:11312 biolink:is_sequence_variant_of HGNC:61 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6f86ff12-5998-4ab8-a858-cee6bf020178 CLINVAR:1357576 biolink:causes MONDO:0018544 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 56407938-ee71-42a9-8331-271978e0874a CLINVAR:1357576 biolink:is_sequence_variant_of HGNC:61 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c42cced0-1e3c-4f07-863f-8dfd8b2ed842 CLINVAR:458646 biolink:causes MONDO:0018544 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 876d0e68-6a60-4adb-bb48-5e1d846084b1 CLINVAR:458646 biolink:is_sequence_variant_of HGNC:61 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a89cc85a-49b4-4958-bf2d-7f6adfbc0660 CLINVAR:872971 biolink:genetically_associated_with MONDO:0018544 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 06595bea-af48-401a-a841-5787611918df CLINVAR:872971 biolink:is_sequence_variant_of HGNC:61 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1ce6158f-3e93-4532-83f9-dd96694bdb7a CLINVAR:974948 biolink:genetically_associated_with MONDO:0018544 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8da43095-798c-4cc1-b5ad-870b3f7279aa CLINVAR:974948 biolink:is_sequence_variant_of HGNC:61 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f00db53c-3105-49a9-9128-08700393f12c CLINVAR:1172887 biolink:associated_with_increased_likelihood_of MONDO:0018544 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 530ef0d0-ec76-42c9-9dbb-a1862ee0e4cc CLINVAR:1172887 biolink:is_sequence_variant_of HGNC:61 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 42441c8d-12d0-4d77-8dee-e06ddee0961f CAID:CA341292216 biolink:genetically_associated_with MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f1dfb074-dd9d-4f80-a63d-ecd606e7ae24 CAID:CA341292216 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 30521ca4-6f2f-41f0-ad11-3a538b9ea5ca CLINVAR:2021273 biolink:associated_with_increased_likelihood_of MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e9674607-34ba-48a8-a8dc-c4fff162db8f CLINVAR:2021273 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f54d736c-a7fb-46b5-af78-c8d905a65164 CAID:CA341289425 biolink:genetically_associated_with MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4bfea71d-2da1-4d60-8cbf-900ebd2ba784 CAID:CA341289425 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bd766f48-837e-4da4-979c-2fb0f884b815 CAID:CA2588340115 biolink:genetically_associated_with MONDO:0018544 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b1ff6d35-337e-434b-a923-b2c527e2088d CAID:CA2588340115 biolink:is_sequence_variant_of HGNC:61 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ddd2c23f-a2a0-4edc-87a3-de011d25d7d2 CLINVAR:4710906 biolink:associated_with_increased_likelihood_of MONDO:0018544 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d4c0a0d1-e19f-4f87-a388-3ea17b4d5d44 CLINVAR:4710906 biolink:is_sequence_variant_of HGNC:61 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e68193fb-924a-4563-8dbd-d088773688fd CLINVAR:837244 biolink:associated_with_increased_likelihood_of MONDO:0018544 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e9e03598-7dc3-4cb5-bf72-fbcb44792cf8 CLINVAR:837244 biolink:is_sequence_variant_of HGNC:61 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 197e4333-ee78-46e2-98a9-a024b5d7487d CLINVAR:3724631 biolink:genetically_associated_with MONDO:0018544 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen bfe8661d-ee16-4a6e-8f98-bba4d49d97e7 CLINVAR:3724631 biolink:is_sequence_variant_of HGNC:61 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3171f36e-4a25-4291-b1b7-3ae0efb0f3d7 CLINVAR:914586 biolink:genetically_associated_with MONDO:0018544 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 43dcd438-f3b0-48dd-9f21-00ab74db1f92 CLINVAR:914586 biolink:is_sequence_variant_of HGNC:61 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 29b9ecfe-31a2-44d2-8b83-21e3814aba80 CLINVAR:420900 biolink:genetically_associated_with MONDO:0018544 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d2cc0386-39e5-4d17-8dc9-000f8fc6e6a5 CLINVAR:420900 biolink:is_sequence_variant_of HGNC:61 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e8c80eff-1888-4062-8383-13821abe2da0 CLINVAR:528335 biolink:genetically_associated_with MONDO:0018544 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 42fe791f-f6ec-4b4e-84af-261816adb92b CLINVAR:528335 biolink:is_sequence_variant_of HGNC:61 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a0e1a89f-6d77-4394-9f5a-939192232d53 CLINVAR:1410844 biolink:genetically_associated_with MONDO:0018544 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4ca91744-0632-40e3-84ad-acab1a7d4f5d CLINVAR:1410844 biolink:is_sequence_variant_of HGNC:61 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 05a1a0d8-1822-4974-9abe-e296810c668a CLINVAR:851448 biolink:associated_with_increased_likelihood_of MONDO:0018544 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e6f5e78b-bb91-4ba2-b090-2eff7df5753a CLINVAR:851448 biolink:is_sequence_variant_of HGNC:61 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 01d2b2c1-bbd6-4027-8aed-dcb8d4d28dd3 CLINVAR:1420866 biolink:associated_with_increased_likelihood_of MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 747588f8-9167-4070-b209-04efba799bb1 CLINVAR:1420866 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3b9d2f6f-51c9-4712-86c0-6015669bf843 CLINVAR:219532 biolink:associated_with_increased_likelihood_of MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 27388ab8-ebcb-4fb0-84e3-adac0e226e26 CLINVAR:219532 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8be01e3f-5ff8-4436-9819-1855b7408b0a CLINVAR:934410 biolink:associated_with_increased_likelihood_of MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ef6cbdcd-993e-450e-aa14-bac3930ca249 CLINVAR:934410 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen da58d46b-9707-4649-bcc6-4f9eda48607b CLINVAR:480759 biolink:genetically_associated_with MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 331078bf-b38f-4353-98df-4afa4d05c66e CLINVAR:480759 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen daebce42-aa26-4b99-8b95-02904ad17353 CLINVAR:486555 biolink:causes MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 13b3ac2c-e63a-4097-8e5d-1906ef70eac1 CLINVAR:486555 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c58ea12b-1e9a-4d1d-837d-a7d573a9363a CLINVAR:988616 biolink:causes MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c0a682b6-fd20-46d2-8974-804bc997598c CLINVAR:988616 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 595dfc81-c89e-44fa-88a8-8c4cbc8a10ac CAID:CA2695213741 biolink:causes MONDO:0000572 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 33815862-7445-4f9f-819f-2caeaaad8d5f CAID:CA2695213741 biolink:is_sequence_variant_of HGNC:9831 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eec6425c-3934-4d36-a22b-c24536d8b64c CLINVAR:1072413 biolink:causes MONDO:0000572 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 705e5bf5-e06d-47c2-a56c-f69279799c86 CLINVAR:1072413 biolink:is_sequence_variant_of HGNC:9831 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d159a63f-6b01-4b87-b068-2b802a00c1fc CLINVAR:13148 biolink:causes MONDO:0000572 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 81cef6f7-6049-4be6-8256-960ea6bd1d00 CLINVAR:13148 biolink:is_sequence_variant_of HGNC:9831 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 247bdb4b-59e0-438a-a25f-127a998b4b98 CAID:CA376060150 biolink:associated_with_increased_likelihood_of MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen dadcae43-8154-424e-b46b-6e43a6b6aeed CAID:CA376060150 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1f6af7b5-8191-4831-a76a-0ed9c4f2c900 CLINVAR:624584 biolink:associated_with_increased_likelihood_of MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 264f23b0-09ae-4d55-8086-c051ce0c17a4 CLINVAR:624584 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 52ca9e85-57ba-4d38-be52-9a907fd7f240 CLINVAR:488725 biolink:causes MONDO:0000572 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d1dd6ff2-36bc-48fc-9c89-d5f0775debd3 CLINVAR:488725 biolink:is_sequence_variant_of HGNC:9831 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ed049316-03ab-4e90-ab72-ea6f2cbfd185 CLINVAR:2943710 biolink:causes MONDO:0000572 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0c5fbfd7-18f6-49ef-983a-acfde07d6c3f CLINVAR:2943710 biolink:is_sequence_variant_of HGNC:9831 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 68731b8d-335c-4708-b8b7-6226887285d6 CLINVAR:36714 biolink:causes MONDO:0000572 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b466c05b-e41f-4a8d-9119-29e1aee47f51 CLINVAR:36714 biolink:is_sequence_variant_of HGNC:9831 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1a4de873-f586-46f4-942a-7673b9978906 CLINVAR:13146 biolink:causes MONDO:0000572 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 99c9da8a-c0e0-4972-a18d-ea0d627151f1 CLINVAR:13146 biolink:is_sequence_variant_of HGNC:9831 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a292ca3a-cbb6-40ce-a4b7-63028fc4c82c CAID:CA386958852 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 548ee225-d14e-448b-ba22-7b30c897b8b2 CAID:CA386958852 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ab800b83-1252-4a7f-ad7d-d7ae24d84303 CAID:CA386966502 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9b5c7fc3-ae02-4f6d-82dc-bfd71420e819 CAID:CA386966502 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7057f5e3-d4e8-42b7-8e9b-ceaa53562121 CLINVAR:562363 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3525aa63-e340-4dbc-97e9-34e479f56e3b CLINVAR:562363 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2e3a3b27-1125-4568-8d76-6ee13cf326e0 CLINVAR:972775 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 234dec30-21af-4c72-805d-2c96a051551b CLINVAR:972775 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7a41cb7d-a748-4187-95ce-c65a13e52afc CLINVAR:804857 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f39b891e-4a51-495a-8f64-b4a4bca34dd8 CLINVAR:804857 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fef7e7d4-3bbe-4ed1-9bab-c1418f0fa41c CAID:CA4239432 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 02cb19ed-3d65-4f7d-a0fc-65979e7fdecd CAID:CA4239432 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c549de14-1405-4718-9982-543a4f514d75 CAID:CA4239511 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 841a331b-c5c8-43ae-9029-85c513823b6b CAID:CA4239511 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1c222b98-fca2-4836-bb92-f062a9187306 CAID:CA4239428 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 296d177a-4f83-4a9a-a2c2-8d1c9158306f CAID:CA4239428 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 25a109a1-ffbd-4129-9b73-58efc91e5794 CLINVAR:1770532 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f34fe9fa-e644-4e37-b1b0-80bb113fd4dc CLINVAR:1770532 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c1dbe070-737b-44a3-b041-f00d786c29d0 CLINVAR:2734986 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen fe76d32d-167d-4d78-b0af-824aeeeda0b0 CLINVAR:2734986 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7c8fc443-7a6b-4743-b55d-e795e82a48df CAID:CA367396913 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ce1bac37-138c-4ea0-82aa-27e22cca24c3 CAID:CA367396913 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e57435a5-8127-4078-93d3-64a4f2a56d1e CLINVAR:1761162 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4377e0ae-dc3c-4843-aa96-502e6a962abd CLINVAR:1761162 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3a156b81-9407-4b85-8c41-adda6b0c4673 CLINVAR:3720744 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0aeadf0b-45c7-4e16-954e-379c5859e665 CLINVAR:3720744 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fdf12d43-85f0-4a43-b8b9-c588bd12b870 CAID:CA367398185 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 34a4b9d7-c96f-4c5d-ad68-6f6d7de89b54 CAID:CA367398185 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dbf1be13-5097-4d60-b719-7b73c371ccef CAID:CA367398898 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0c5e29a6-c80e-418a-947c-2490b6106682 CAID:CA367398898 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 57bb5ab1-ef7d-45b4-a208-8941ce5a3397 CLINVAR:3030720 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2830a3ce-10f0-422d-8580-0dc6bc645ebe CLINVAR:3030720 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 97496c6a-af98-45fc-a391-e48a23f76ce2 CLINVAR:918070 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4130df22-abdd-4edb-8a6c-d6f3ac5ec0a3 CLINVAR:918070 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 31a2788f-e9e5-4635-8dc8-9a5028456254 CLINVAR:635988 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c2a6dfa0-0894-4aa6-a025-f2c16dd60aa3 CLINVAR:635988 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4828d7cc-896e-467e-8e46-3f2627d3e70c CLINVAR:92870 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d180bf85-5b26-4987-b1b9-ece90b26ef27 CLINVAR:92870 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 35806991-e116-4ed0-a7ba-aaa05f7cf8d7 CLINVAR:236114 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a0569c78-3f55-40bc-ae01-b65d98806464 CLINVAR:236114 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 18ce69f7-eb98-41d5-850e-54742ddedc74 CLINVAR:666959 biolink:associated_with_increased_likelihood_of MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b6a449bb-838a-403e-974c-8a567d164d94 CLINVAR:666959 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 99b75718-6edb-416d-87b3-97406d3746b1 CAID:CA414435596 biolink:causes MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 30592961-2218-44dc-b043-eb688daa3ff9 CAID:CA414435596 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d414fb61-9642-4356-8902-663aa473c5ea CLINVAR:916723 biolink:genetically_associated_with MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 829feb93-d775-49c9-ad88-b4e5dcfec377 CLINVAR:916723 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen