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Items: 1 to 20 of 314

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7138686insertion1nstd232human GRCh37.p13 chrX: 100,656,797-100,656,797 , GRCh38.p12 chrX: 101,401,809-101,401,809 GLA, RPL36A-HNRNPH2
    nsv7137063copy number variation1nstd102humanPathogenic GRCh37 chrX: 200,855-155,240,074 , GRCh38.p12 chrX: 284,188-156,010,409 RN7SL581P, HMGB1P32, 2151 more genes
    nsv7098681copy number variation3nstd102humanPathogenic, Uncertain significance GRCh37 chrX: 99,551,275-101,097,764 , GRCh38.p12 chrX: 100,296,277-101,842,792 TMEM35A, TNMD, 43 more genes
    nsv7098481copy number variation1nstd102humanPathogenic GRCh37 chrX: 100,651,964-100,653,826 , GRCh38.p12 chrX: 101,396,976-101,398,838 RPL36A-HNRNPH2, GLA
    nsv7098480copy number variation1nstd102humanUncertain significance GRCh37 chrX: 100,601,487-100,662,891 , GRCh38.p12 chrX: 101,346,499-101,407,903 HNRNPH2, RPL36A, 4 more genes
    nsv7098206copy number variation1nstd102humanPathogenic GRCh37 chrX: 100,655,634-100,656,817 , GRCh38.p12 chrX: 101,400,646-101,401,829 GLA, RPL36A-HNRNPH2
    nsv7098104copy number variation1nstd102humanUncertain significance GRCh37 chrX: 100,617,141-100,662,891 , GRCh38.p12 chrX: 101,362,153-101,407,903 GLA, RPL36A, 3 more genes
    nsv7097972copy number variation1nstd102humanPathogenic GRCh37 chrX: 100,499,986-100,662,891 , GRCh38.p12 chrX: 101,244,997-101,407,903 DRP2, GLA, 9 more genes
    nsv7090487copy number variation1nstd229human GRCh38 chrX: 101,398,342-101,399,008 , GRCh37.p13 chrX|NW_004070883.1: 80,018-80,684 , GRCh37.p13 chrX: 100,653,330-100,653,996 RPL36A-HNRNPH2, GLA
    nsv7090477copy number variation1nstd229human GRCh38 chrX: 101,314,695-102,956,469 , GRCh37.p13 chrX: 100,569,683-102,211,397 LOC105373299, RPL21P132, 59 more genes
    nsv7038255inversion1nstd229human GRCh38 chrX: 101,403,809-101,407,710 , GRCh37.p13 chrX: 100,658,797-100,662,698 , GRCh37.p13 chrX|NW_004070883.1: 85,485-89,386 HNRNPH2, RPL36A-HNRNPH2, 1 more genes
    nsv6636543copy number variation1nstd102humanPathogenic GRCh37 chrX: 93,805,850-118,913,329 , GRCh38.p12 chrX: 94,550,851-119,779,366 TRPC5OS, LOC105373314, 351 more genes
    nsv6636116copy number variation1nstd102humanPathogenic GRCh37 chrX: 100,652,808-100,657,327 , GRCh38 chrX: 101,397,820-101,402,339 GLA, RPL36A-HNRNPH2
    nsv6634329copy number variation1nstd102humanPathogenic GRCh37 chrX: 76,794,355-119,282,836 , GRCh38.p12 chrX: 77,538,874-120,148,930 NXF4, RHOXF1P1, 489 more genes
    nsv6634242copy number variation1nstd224human GRCh37 chrX: 1-155,270,560 , GRCh38.p12 chrX: 10,001-156,030,895 NR0B1, ALAS2, 2154 more genes
    nsv6315429copy number variation1nstd102humanPathogenic GRCh37 chrX: 77,670,699-155,233,731 , GRCh38.p12 chrX: 78,415,202-156,004,066 H2AB1, GPR174, 1081 more genes
    nsv6315393copy number variation1nstd102humanPathogenic GRCh37 chrX: 61,545-155,226,048 , GRCh38.p12 chrX: 11,545-155,996,383 H2BP8, LOC101060199, 2151 more genes
    nsv6315389copy number variation1nstd102humanPathogenic GRCh37 chrX: 11,522,765-155,233,731 , GRCh38.p12 chrX: 11,504,645-156,004,066 RBMX, LOC100129144, 2042 more genes
    nsv6315332copy number variation1nstd102humanPathogenic GRCh37 chrX: 62,685,885-155,233,731 , GRCh38.p12 chrX: 63,466,005-156,004,066 MAGT1, TAFAZZIN, 1337 more genes
    nsv6315331copy number variation4nstd102humanPathogenic GRCh37 chrX: 1-155,270,560 , GRCh38.p12 chrX: 10,001-156,030,895 PLAC1, PGK1P1, 2154 more genes
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