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Items: 1 to 20 of 179

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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
    nsv7096119copy number variation2nstd102humanUncertain significance GRCh37 chr2: 189,839,216-192,012,929 , GRCh38.p12 chr2: 188,974,490-191,148,203 NAB1, ANKAR, 38 more genes
    nsv6684316copy number variation1nstd229human GRCh38 chr2: 189,764,616-189,775,162 , GRCh37.p13 chr2: 190,629,342-190,639,888 OSGEPL1-AS1, ORMDL1
    nsv6682584copy number variation1nstd229human GRCh38 chr2: 189,765,801-189,895,600 , GRCh37.p13 chr2: 190,630,527-190,760,326 C2orf88, LOC100421409, 4 more genes
    nsv6681294copy number variation1nstd229human GRCh38 chr2: 189,780,801-189,788,300 , GRCh37.p13 chr2: 190,645,527-190,653,026 PMS1, ORMDL1
    nsv6680798copy number variation1nstd229human GRCh38 chr2: 189,752,801-189,765,900 , GRCh37.p13 chr2: 190,617,527-190,630,626 ORMDL1, ANKAR, 2 more genes
    nsv6678780copy number variation1nstd229human GRCh38 chr2: 189,761,132-189,762,790 , GRCh37.p13 chr2: 190,625,858-190,627,516 ORMDL1, ANKAR, 2 more genes
    nsv6678144copy number variation1nstd229human GRCh38 chr2: 189,764,114-189,776,918 , GRCh37.p13 chr2: 190,628,840-190,641,644 OSGEPL1-AS1, ORMDL1
    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
    nsv6636571copy number variation1nstd102humanPathogenic GRCh37 chr2: 187,152,754-199,960,525 , GRCh38.p12 chr2: 186,288,027-199,095,802 GAPDHP59, OSGEPL1-AS1, 135 more genes
    nsv6627743copy number variation1nstd224human GRCh37 chr2: 190,521,054-191,071,369 , GRCh38.p12 chr2: 189,656,328-190,206,643 MSTN, LOC100421409, 14 more genes
    nsv6542262inversion1nstd223human GRCh38 chr2: 189,765,953-189,766,446 , GRCh37.p13 chr2: 190,630,679-190,631,172 ORMDL1, OSGEPL1-AS1
    nsv6340283copy number variation1nstd223human GRCh38 chr2: 189,755,601-189,762,300 , GRCh37.p13 chr2: 190,620,327-190,627,026 OSGEPL1, OSGEPL1-AS1, 2 more genes
    nsv6339620copy number variation1nstd223human GRCh38 chr2: 189,782,501-189,788,500 , GRCh37.p13 chr2: 190,647,227-190,653,226 ORMDL1, PMS1
    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
    nsv6295657copy number variation1nstd186human GRCh37 chr2: 190,636,628-190,640,290 , GRCh38.p12 chr2: 189,771,902-189,775,564 ORMDL1
    nsv5682371mobile element insertion1nstd211human GRCh38 chr2: 189,768,723-189,768,723 , GRCh37.p13 chr2: 190,633,449-190,633,449 ORMDL1
    nsv5560580sequence alteration1nstd206human GRCh38 chr2: 151,447,581-231,256,535 , GRCh37.p13 chr2: 152,304,095-232,121,248 , ATIC, 1163 more genes
    nsv5439054copy number variation1nstd206human GRCh38 chr2: 189,771,902-189,775,564 , GRCh37.p13 chr2: 190,636,628-190,640,290 ORMDL1
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