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Items: 1 to 20 of 373

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7099262copy number variation1nstd231human GRCh38.p12 chr1: 211,826,028-221,140,287 , GRCh37 chr1: 211,999,370-221,313,629 ATF3, CENPF, 114 more genes
    nsv7096026copy number variation1nstd102humanUncertain significance GRCh37 chr1: 220,298,559-220,325,126 , GRCh38.p12 chr1: 220,125,217-220,151,784 RAB3GAP2, RPS15AP12, 1 more genes
    nsv7095973copy number variation1nstd102humanPathogenic GRCh37 chr1: 220,088,791-220,445,679 , GRCh38.p12 chr1: 219,915,449-220,272,337 AURKAP1, IARS2, 13 more genes
    nsv7095972copy number variation1nstd102humanPathogenic GRCh37 chr1: 218,520,044-220,986,760 , GRCh38.p12 chr1: 218,346,702-220,813,418 TGFB2, LOC105373475, 38 more genes
    nsv7095588copy number variation1nstd102humanPathogenic GRCh37 chr1: 220,330,592-220,335,630 , GRCh38.p12 chr1: 220,157,250-220,162,288 RAB3GAP2
    nsv7095587copy number variation1nstd102humanUncertain significance GRCh37 chr1: 220,088,791-220,986,760 , GRCh38.p12 chr1: 219,915,449-220,813,418 BPNT1, SNORA36B, 24 more genes
    nsv7095512copy number variation1nstd102humanUncertain significance GRCh37 chr1: 220,088,791-220,406,225 , GRCh38.p12 chr1: 219,915,449-220,232,883 MIR215, SNX2P1, 11 more genes
    nsv7053169inversion1nstd229human GRCh38 chr1: 220,201,642-220,202,025 , GRCh37.p13 chr1: 220,374,984-220,375,367 RAB3GAP2
    nsv7052462inversion1nstd229human GRCh38 chr1: 219,653,745-221,511,784 , GRCh37.p13 chr1: 219,827,087-221,685,126 RNA5SP76, MIR215, 36 more genes
    nsv7049972inversion1nstd229human GRCh38 chr1: 220,248,089-220,248,183 , GRCh37.p13 chr1: 220,421,431-220,421,525 RAB3GAP2
    nsv6675558copy number variation1nstd229human GRCh38 chr1: 220,172,097-220,172,260 , GRCh37.p13 chr1: 220,345,439-220,345,602 RAB3GAP2
    nsv6673615copy number variation1nstd229human GRCh38 chr1: 220,263,035-220,267,544 , GRCh37.p13 chr1: 220,436,377-220,440,886 AURKAP1, RAB3GAP2
    nsv6673250copy number variation1nstd229human GRCh38 chr1: 220,214,857-220,223,888 , GRCh37.p13 chr1: 220,388,199-220,397,230 RAB3GAP2
    nsv6673103copy number variation1nstd229human GRCh38 chr1: 220,261,901-220,267,600 , GRCh37.p13 chr1: 220,435,243-220,440,942 RAB3GAP2, AURKAP1
    nsv6670580copy number variation1nstd229human GRCh38 chr1: 220,263,101-220,266,700 , GRCh37.p13 chr1: 220,436,443-220,440,042 AURKAP1, RAB3GAP2
    nsv6664896copy number variation1nstd229human GRCh38 chr1: 220,207,037-220,213,340 , GRCh37.p13 chr1: 220,380,379-220,386,682 SNX2P1, RAB3GAP2
    nsv6662359copy number variation1nstd229human GRCh38 chr1: 220,234,297-220,234,384 , GRCh37.p13 chr1: 220,407,639-220,407,726 RAB3GAP2
    nsv6660773copy number variation1nstd229human GRCh38 chr1: 220,180,616-220,192,762 , GRCh37.p13 chr1: 220,353,958-220,366,104 RAB3GAP2
    nsv6659061copy number variation1nstd229human GRCh38 chr1: 220,052,331-220,322,940 , GRCh37.p13 chr1: 220,225,673-220,496,282 AURKAP1, RPS15AP12, 12 more genes
    nsv6638068copy number variation1nstd102humanassociation GRCh38 chr1: 208,430,918-228,938,006 , GRCh37.p13 chr1: 208,604,263-229,073,753 AURKAP1, TLR5, 372 more genes
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