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Items: 1 to 20 of 129

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7094225copy number variation1nstd102humanPathogenic GRCh37 chr12: 88,452,605-88,494,960 , GRCh38.p12 chr12: 88,058,828-88,101,183 LOC100420011, CEP290
    nsv7077519inversion1nstd229human GRCh38 chr12: 86,495,718-92,133,299 , GRCh37.p13 chr12: 86,889,495-92,527,075 CEP290, MIR3059, 60 more genes
    nsv7060010inversion1nstd229human GRCh38 chr12: 86,085,575-91,207,469 , GRCh37.p13 chr12: 86,479,353-91,601,246 POC1B, C12orf50, 55 more genes
    nsv6937405copy number variation1nstd229human GRCh38 chr12: 87,957,217-88,286,316 , GRCh37.p13 chr12: 88,350,994-88,680,093 RNA5SP364, LOC107984542, 6 more genes
    nsv6932987copy number variation1nstd229human GRCh38 chr12: 87,925,501-88,494,507 , GRCh37.p13 chr12: 88,319,278-88,888,284 LOC107984542, RPS4XP15, 8 more genes
    nsv6931650copy number variation1nstd229human GRCh38 chr12: 88,048,244-88,058,235 , GRCh37.p13 chr12: 88,442,021-88,452,012 RNA5SP364, CEP290, 2 more genes
    nsv6929928copy number variation1nstd229human GRCh38 chr12: 87,978,901-88,153,800 , GRCh37.p13 chr12: 88,372,678-88,547,577 CEP290, C12orf50, 5 more genes
    nsv6928678copy number variation1nstd229human GRCh38 chr12: 88,027,812-88,118,908 , GRCh37.p13 chr12: 88,421,589-88,512,685 RLIG1, LOC100420011, 4 more genes
    nsv6925267copy number variation1nstd229human GRCh38 chr12: 88,047,969-88,320,569 , GRCh37.p13 chr12: 88,441,746-88,714,346 RLIG1, RNA5SP364, 4 more genes
    nsv6923370copy number variation1nstd229human GRCh38 chr12: 88,046,581-88,058,105 , GRCh37.p13 chr12: 88,440,358-88,451,882 RLIG1, RNA5SP364, 2 more genes
    nsv6621629copy number variation1nstd224human GRCh37 chr12: 88,447,475-88,474,003 , GRCh38.p12 chr12: 88,053,698-88,080,226 CEP290, LOC100420011
    nsv6475097copy number variation1nstd223human GRCh38 chr12: 88,056,670-88,057,272 , GRCh37.p13 chr12: 88,450,447-88,451,049 CEP290, LOC100420011
    nsv6472670copy number variation1nstd223human GRCh38 chr12: 88,056,393-88,060,519 , GRCh37.p13 chr12: 88,450,170-88,454,296 CEP290, LOC100420011
    nsv6466059copy number variation1nstd223human GRCh38 chr12: 87,815,838-88,090,776 , GRCh37.p13 chr12: 88,209,615-88,484,553 GADD45AP1, CEP290, 6 more genes
    nsv6314045copy number variation1nstd102humanUncertain significance GRCh37 chr12: 87,592,859-88,575,639 , GRCh38.p12 chr12: 87,199,082-88,181,862 LOC100420011, LOC107984542, 14 more genes
    nsv6309520copy number variation1nstd102humanPathogenic GRCh37 chr12: 88,442,961-88,452,817 , GRCh38.p12 chr12: 88,049,184-88,059,040 CEP290, RLIG1, 2 more genes
    nsv6309488copy number variation1nstd102humanUncertain significance GRCh37 chr12: 88,442,961-89,919,672 , GRCh38.p12 chr12: 88,049,184-89,525,895 RLIG1, LOC105369886, 20 more genes
    nsv6309422copy number variation1nstd102humanPathogenic GRCh37 chr12: 88,452,615-88,453,807 , GRCh38.p12 chr12: 88,058,838-88,060,030 LOC100420011, CEP290
    nsv6143026copy number variation1nstd206human GRCh38 chr12: 48,500,915-111,724,058 , GRCh37.p13 chr12: 48,894,698-112,161,862 , LINC00592, 1206 more genes
    nsv6132719copy number variation1nstd213human GRCh37 chr12: 87,560,000-88,490,001 , GRCh38.p12 chr12: 87,166,223-88,096,224 CYCSP30, LOC105369880, 15 more genes
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