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Items: 1 to 20 of 247

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5980451copy number variation1nstd102humanLikely pathogenic GRCh37 chr14: 54,654,001-75,828,024 , GRCh38.p12 chr14: 54,187,283-75,361,321 ACTN1, ACYP1, 400 more genes
    nsv5976464insertion1nstd209human GRCh38 chr14: 67,508,753-67,508,753 , GRCh37.p13 chr14: 67,975,470-67,975,470 TMEM229B
    nsv5941245copy number variation1nstd209human GRCh38 chr14: 67,515,598-67,515,649 , GRCh37.p13 chr14: 67,982,315-67,982,366 TMEM229B
    nsv5931378copy number variation1nstd209human GRCh38 chr14: 67,255,048-67,637,246 , GRCh37.p13 chr14: 67,721,765-68,103,963 , MIR5694, 11 more genes
    nsv5859830copy number variation2nstd209human GRCh38 chr14: 67,514,007-67,515,006 , GRCh37.p13 chr14: 67,980,724-67,981,723 TMEM229B
    nsv5704520mobile element insertion2nstd211human GRCh38 chr14: 67,511,375-67,511,375 , GRCh37.p13 chr14: 67,978,092-67,978,092 TMEM229B
    nsv5508666copy number variation1nstd206human GRCh38 chr14: 67,515,599-67,515,650 , GRCh37.p13 chr14: 67,982,316-67,982,367 TMEM229B
    nsv5506647copy number variation1nstd206human GRCh38 chr14: 67,472,822-67,472,872 , GRCh37.p13 chr14: 67,939,539-67,939,589 TMEM229B
    nsv5501791copy number variation1nstd206human GRCh38 chr14: 67,479,586-67,479,981 , GRCh37.p13 chr14: 67,946,303-67,946,698 TMEM229B
    nsv5380972copy number variation2nstd102humanUncertain significance GRCh37 chr14: 65,937,790-68,354,021 , GRCh38.p12 chr14: 65,471,072-67,887,304 RPL21P9, LOC100419668, 35 more genes
    nsv5187421mobile element insertion1nstd203human GRCh38 chr14: 67,508,753-67,508,768 , GRCh37.p13 chr14: 67,975,470-67,975,485 TMEM229B
    nsv5032025inversion1nstd200human GRCh38 chr14: 53,190,097-88,878,877 , GRCh37.p13 chr14: 53,656,815-89,345,221 , IFT43, 578 more genes
    nsv5004726copy number variation1nstd200human GRCh38 chr14: 67,489,064-67,497,478 , GRCh37.p13 chr14: 67,955,781-67,964,195 TMEM229B
    nsv5004725copy number variation1nstd200human GRCh38 chr14: 67,476,326-67,500,420 , GRCh37.p13 chr14: 67,943,043-67,967,137 TMEM229B
    nsv4844653copy number variation1nstd200human GRCh37 chr14: 67,955,781-67,964,195 , GRCh38.p12 chr14: 67,489,064-67,497,478 TMEM229B
    nsv4838047copy number variation1nstd200human GRCh37 chr14: 67,721,720-68,104,019 , GRCh38.p12 chr14: 67,255,003-67,637,302 , PIGH, 11 more genes
    nsv4675709copy number variation1nstd102humanUncertain significance GRCh37 chr14: 67,331,167-68,451,970 , GRCh38.p12 chr14: 66,864,449-67,985,253 RDH11, RN7SL369P, 25 more genes
    nsv4669188copy number variation1nstd186human GRCh37 chr14: 68,000,011-68,000,056 , GRCh38.p12 chr14: 67,533,294-67,533,339 TMEM229B, PLEKHH1
    nsv4631663copy number variation1nstd183human GRCh37 chr14: 67,984,105-67,985,082 , GRCh38.p12 chr14: 67,517,388-67,518,365 TMEM229B
    nsv4626416copy number variation1nstd183human GRCh37 chr14: 67,982,381-68,000,056 , GRCh38.p12 chr14: 67,515,664-67,533,339 PLEKHH1, TMEM229B
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