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Items: 1 to 20 of 302

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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
    nsv7147962insertion1nstd232human GRCh37.p13 chr2: 190,706,549-190,706,549 , GRCh38.p12 chr2: 189,841,823-189,841,823 PMS1
    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
    nsv7049845inversion1nstd229human GRCh38 chr2: 189,792,687-189,792,762 , GRCh37.p13 chr2: 190,657,413-190,657,488 PMS1
    nsv6693997copy number variation1nstd229human GRCh38 chr2: 189,850,301-189,860,668 , GRCh37.p13 chr2: 190,715,027-190,725,394 LOC105373796, PMS1
    nsv6693936copy number variation1nstd229human GRCh38 chr2: 189,848,584-189,873,305 , GRCh37.p13 chr2: 190,713,310-190,738,031 PMS1, LOC105373796
    nsv6693808copy number variation1nstd229human GRCh38 chr2: 189,843,189-189,851,456 , GRCh37.p13 chr2: 190,707,915-190,716,182 PMS1, LOC105373796
    nsv6691317copy number variation1nstd229human GRCh38 chr2: 189,853,228-189,855,439 , GRCh37.p13 chr2: 190,717,954-190,720,165 LOC105373796, PMS1
    nsv6687953copy number variation1nstd229human GRCh38 chr2: 189,842,460-189,844,790 , GRCh37.p13 chr2: 190,707,186-190,709,516 PMS1
    nsv6682689copy number variation1nstd229human GRCh38 chr2: 189,842,971-189,843,014 , GRCh37.p13 chr2: 190,707,697-190,707,740 PMS1
    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
    nsv6682418copy number variation1nstd229human GRCh38 chr2: 189,798,719-189,802,018 , GRCh37.p13 chr2: 190,663,445-190,666,744 PMS1
    nsv6681294copy number variation1nstd229human GRCh38 chr2: 189,780,801-189,788,300 , GRCh37.p13 chr2: 190,645,527-190,653,026 PMS1, ORMDL1
    nsv6680336copy number variation1nstd229human GRCh38 chr2: 189,862,801-189,871,200 , GRCh37.p13 chr2: 190,727,527-190,735,926 PMS1, LOC105373796
    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
    nsv6627800copy number variation1nstd224human GRCh37 chr2: 190,708,804-190,724,141 , GRCh38.p12 chr2: 189,844,078-189,859,415 PMS1, LOC105373796
    nsv6627744copy number variation1nstd224human GRCh37 chr2: 190,719,499-190,750,132 , GRCh38.p12 chr2: 189,854,773-189,885,406 LOC105373796, C2orf88, 1 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
    nsv6555291inversion1nstd223human GRCh38 chr2: 189,844,329-189,844,867 , GRCh37.p13 chr2: 190,709,055-190,709,593 PMS1
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