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Items: 1 to 20 of 261

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7148056copy number variation1nstd102humanPathogenic GRCh37 chr2: 186,698,504-223,918,111 , GRCh38.p12 chr2: 185,833,777-223,053,393 DNAJB1P1, MTCO2P17, 580 more genes
    nsv7046234inversion1nstd229human GRCh38 chr2: 207,213,579-207,224,238 , GRCh37.p13 chr2: 208,078,303-208,088,962 MYOSLID-AS1
    nsv7040011inversion1nstd229human GRCh38 chr2: 206,913,241-207,274,391 , GRCh37.p13 chr2: 207,777,965-208,139,115 KLF7, MYOSLID, 6 more genes
    nsv7039158inversion1nstd229human GRCh38 chr2: 207,227,910-207,227,982 , GRCh37.p13 chr2: 208,092,634-208,092,706 MYOSLID-AS1
    nsv7038468inversion1nstd229human GRCh38 chr2: 206,896,569-207,345,676 , GRCh37.p13 chr2: 207,761,293-208,210,400 KLF7, LINC01802, 7 more genes
    nsv6694866copy number variation1nstd229human GRCh38 chr2: 207,217,801-207,222,400 , GRCh37.p13 chr2: 208,082,525-208,087,124 MYOSLID-AS1
    nsv6688929copy number variation1nstd229human GRCh38 chr2: 207,192,045-207,202,410 , GRCh37.p13 chr2: 208,056,769-208,067,134 MYOSLID-AS1
    nsv6687242copy number variation1nstd229human GRCh38 chr2: 207,218,441-207,218,629 , GRCh37.p13 chr2: 208,083,165-208,083,353 MYOSLID-AS1
    nsv6685793copy number variation1nstd229human GRCh38 chr2: 207,203,973-207,205,868 , GRCh37.p13 chr2: 208,068,697-208,070,592 MYOSLID-AS1
    nsv6684208copy number variation1nstd229human GRCh38 chr2: 207,213,045-207,214,561 , GRCh37.p13 chr2: 208,077,769-208,079,285 MYOSLID-AS1
    nsv6680531copy number variation1nstd229human GRCh38 chr2: 207,175,150-207,185,368 , GRCh37.p13 chr2: 208,039,874-208,050,092 MYOSLID-AS1
    nsv6637127copy number variation1nstd102humanPathogenic GRCh37 chr2: 189,909,904-209,468,383 , GRCh38.p12 chr2: 189,045,178-208,603,658 LOC100421409, LOC100507443, 310 more genes
    nsv6353989copy number variation1nstd223human GRCh38 chr2: 207,189,357-207,189,881 , GRCh37.p13 chr2: 208,054,081-208,054,605 MYOSLID-AS1
    nsv6341460copy number variation1nstd223human GRCh38 chr2: 207,213,263-207,213,833 , GRCh37.p13 chr2: 208,077,987-208,078,557 MYOSLID-AS1
    nsv6336030copy number variation1nstd223human GRCh38 chr2: 207,175,149-207,185,367 , GRCh37.p13 chr2: 208,039,873-208,050,091 MYOSLID-AS1
    nsv6315398copy number variation1nstd102humanPathogenic GRCh37 chr2: 185,697,659-213,002,074 , GRCh38.p12 chr2: 184,832,932-212,137,349 LOC107985785, MYO1B, 381 more genes
    nsv6315390copy number variation1nstd102humanPathogenic GRCh37 chr2: 1-243,199,373 , GRCh38.p12 chr2: 10,001-242,157,305 LOC112268439, RNA5SP116, 3737 more genes
    nsv6313730copy number variation1nstd102humanPathogenic GRCh37 chr2: 200,851,079-209,054,267 , GRCh38.p12 chr2: 199,986,356-208,189,543 RN7SKP200, PIMREGP1, 179 more genes
    nsv6311631copy number variation1nstd102humanUncertain significance GRCh37 chr2: 203,420,070-211,811,277 , GRCh38.p12 chr2: 202,555,347-210,946,553 MIR3130-2, WDR12, 133 more genes
    nsv6306039insertion1nstd186human GRCh37 chr2: 208,061,649-208,061,700 , GRCh38.p12 chr2: 207,196,925-207,196,976 MYOSLID-AS1
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