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Items: 1 to 20 of 162

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7051246inversion1nstd229human GRCh38 chr2: 99,001,430-99,852,801 , GRCh37.p13 chr2: 99,617,893-100,469,263 EIF5B, MITD1, 12 more genes
    nsv6689456copy number variation1nstd229human GRCh38 chr2: 99,185,351-99,204,568 , GRCh37.p13 chr2: 99,801,814-99,821,031 MRPL30
    nsv6688619copy number variation1nstd229human GRCh38 chr2: 99,198,229-99,201,852 , GRCh37.p13 chr2: 99,814,692-99,818,315 MRPL30
    nsv6682900copy number variation1nstd229human GRCh38 chr2: 99,199,401-99,218,900 , GRCh37.p13 chr2: 99,815,864-99,835,363 MRPL30
    nsv6681206copy number variation1nstd229human GRCh38 chr2: 99,177,793-99,328,393 , GRCh37.p13 chr2: 99,794,256-99,944,856 MRPL30, LYG1, 4 more genes
    nsv6679675copy number variation1nstd229human GRCh38 chr2: 99,175,065-99,198,510 , GRCh37.p13 chr2: 99,791,528-99,814,973 MRPL30, MITD1
    nsv6636315copy number variation1nstd102humanLikely pathogenic GRCh37 chr2: 95,341,388-100,340,514 , GRCh38.p12 chr2: 94,675,663-99,724,052 ADRA2B, ATP5F1BP1, 130 more genes
    nsv6634330copy number variation1nstd102humanPathogenic GRCh37 chr2: 11,504,318-111,365,996 , GRCh38.p12 chr2: 11,364,192-110,608,419 CYP1B1-AS1, LOC107985771, 1649 more genes
    nsv6547030inversion1nstd223human GRCh38 chr2: 99,195,998-99,196,442 , GRCh37.p13 chr2: 99,812,461-99,812,905 MRPL30
    nsv6350797copy number variation1nstd223human GRCh38 chr2: 99,175,065-99,198,504 , GRCh37.p13 chr2: 99,791,528-99,814,967 MITD1, MRPL30
    nsv6336876copy number variation1nstd223human GRCh38 chr2: 99,198,229-99,201,851 , GRCh37.p13 chr2: 99,814,692-99,818,314 MRPL30
    nsv6315390copy number variation1nstd102humanPathogenic GRCh37 chr2: 1-243,199,373 , GRCh38.p12 chr2: 10,001-242,157,305 LOC112268439, RNA5SP116, 3737 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
    nsv6313594copy number variation1nstd102humanUncertain significance GRCh37 chr2: 99,725,222-99,846,305 , GRCh38.p12 chr2: 99,108,759-99,229,842 LIPT1, MITD1, 3 more genes
    nsv6296615copy number variation1nstd186human GRCh37 chr2: 99,738,242-99,799,220 , GRCh38.p12 chr2: 99,121,779-99,182,757 MRPL30, LIPT1, 3 more genes
    nsv6134377copy number variation1nstd213human GRCh37 chr2: 99,750,000-100,700,001 , GRCh38.p12 chr2: 99,133,537-100,083,539 AFF3, EIF5B, 11 more genes
    nsv5554214mobile element insertion1nstd206human GRCh38 chr2: 43,826,578-177,947,868 , GRCh37.p13 chr2: 44,053,717-178,812,595 , POLR1B, 2149 more genes
    nsv5451223copy number variation1nstd206human GRCh38 chr2: 99,175,065-99,198,504 , GRCh37.p13 chr2: 99,791,528-99,814,967 MRPL30, MITD1
    nsv5448881copy number variation1nstd206human GRCh38 chr2: 99,121,779-99,182,757 , GRCh37.p13 chr2: 99,738,242-99,799,220 LIPT1, MRPL30, 3 more genes
    nsv5435117copy number variation1nstd206human GRCh38 chr2: 99,191,126-99,200,400 , GRCh37.p13 chr2: 99,807,589-99,816,863 MRPL30
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