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Items: 1 to 20 of 214

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7143564insertion1nstd232human GRCh37.p13 chr2: 136,701,050-136,701,050 , GRCh38.p12 chr2: 135,943,480-135,943,480 DARS1
    nsv7141912insertion1nstd232human GRCh37.p13 chr2: 136,678,170-136,678,170 , GRCh38.p12 chr2: 135,920,600-135,920,600 DARS1
    nsv7140629insertion1nstd232human GRCh37.p13 chr2: 136,680,492-136,680,492 , GRCh38.p12 chr2: 135,922,922-135,922,922 DARS1
    nsv7096367copy number variation1nstd102humanUncertain significance GRCh37 chr2: 136,545,894-136,875,630 , GRCh38.p12 chr2: 135,788,324-136,118,060 DARS1-AS1, LCT, 5 more genes
    nsv7095856copy number variation1nstd102humanUncertain significance GRCh37 chr2: 135,809,878-136,875,630 , GRCh38.p12 chr2: 135,052,308-136,118,060 G3BP1P1, UBXN4, 14 more genes
    nsv7056255inversion1nstd229human GRCh38 chr2: 135,915,971-135,931,110 , GRCh37.p13 chr2: 136,673,541-136,688,680 DARS1
    nsv6697472copy number variation1nstd229human GRCh38 chr2: 135,944,870-135,945,528 , GRCh37.p13 chr2: 136,702,440-136,703,098 DARS1
    nsv6694307copy number variation1nstd229human GRCh38 chr2: 135,750,511-136,163,087 , GRCh37.p13 chr2: 136,508,081-136,920,657 CXCR4, LCT-AS1, 6 more genes
    nsv6691112copy number variation1nstd229human GRCh38 chr2: 135,915,600-135,916,353 , GRCh37.p13 chr2: 136,673,170-136,673,923 DARS1
    nsv6679692copy number variation1nstd229human GRCh38 chr2: 128,625,642-138,426,614 , GRCh37.p13 chr2: 129,383,216-139,184,184 MTND4P27, LOC646674, 194 more genes
    nsv6554152inversion1nstd223human GRCh38 chr2: 135,963,438-135,964,577 , GRCh37.p13 chr2: 136,721,008-136,722,147 DARS1
    nsv6548252inversion1nstd223human GRCh38 chr2: 135,967,999-135,968,940 , GRCh37.p13 chr2: 136,725,569-136,726,510 DARS1
    nsv6544376inversion1nstd223human GRCh38 chr2: 135,934,667-135,935,042 , GRCh37.p13 chr2: 136,692,237-136,692,612 DARS1
    nsv6353082copy number variation1nstd223human GRCh38 chr2: 135,750,511-136,163,087 , GRCh37.p13 chr2: 136,508,081-136,920,657 DARS1, LCT, 6 more genes
    nsv6343109copy number variation1nstd223human GRCh38 chr2: 128,625,639-138,426,614 , GRCh37.p13 chr2: 129,383,213-139,184,184 CYP4F30P, CCDC74B, 194 more genes
    nsv6315390copy number variation1nstd102humanPathogenic GRCh37 chr2: 1-243,199,373 , GRCh38.p12 chr2: 10,001-242,157,305 LOC112268439, RNA5SP116, 3737 more genes
    nsv6314748copy number variation1nstd102humanPathogenic GRCh37 chr2: 112,475,655-145,691,999 , GRCh38.p12 chr2: 111,718,078-144,934,432 MED15P9, TMEM37, 474 more genes
    nsv6314726copy number variation1nstd102humanLikely pathogenic GRCh37 chr2: 40,607,042-146,902,764 , GRCh38.p12 chr2: 40,379,902-146,145,196 ACTG2, ACYP2, 1713 more genes
    nsv6291353copy number variation1nstd102humanPathogenic GRCh37 chr2: 111,484,468-146,333,604 , GRCh38.p12 chr2: 110,726,891-145,576,036 LINC01120, LOC105373585, 490 more genes
    nsv6290867copy number variation1nstd102humanPathogenic GRCh37 chr2: 122,699,106-143,799,629 , GRCh38.p12 chr2: 121,941,530-143,042,060 RNU6-675P, RNU6-1049P, 300 more genes
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