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Items: 1 to 20 of 155

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7093972copy number variation1nstd102humanUncertain significance GRCh37 chr12: 44,171,413-44,180,518 , GRCh38.p12 chr12: 43,777,610-43,786,715 IRAK4
    nsv7058459inversion1nstd229human GRCh38 chr12: 42,355,078-43,880,813 , GRCh37.p13 chr12: 42,748,880-44,274,616 LINC02461, LOC390308, 18 more genes
    nsv6933876copy number variation1nstd229human GRCh38 chr12: 43,690,901-43,960,400 , GRCh37.p13 chr12: 44,084,704-44,354,203 TWF1, PUS7L, 2 more genes
    nsv6931955copy number variation1nstd229human GRCh38 chr12: 43,732,178-43,882,560 , GRCh37.p13 chr12: 44,125,981-44,276,363 PUS7L, TWF1, 2 more genes
    nsv6930463copy number variation1nstd229human GRCh38 chr12: 43,780,850-43,783,601 , GRCh37.p13 chr12: 44,174,653-44,177,404 IRAK4
    nsv6923831copy number variation1nstd229human GRCh38 chr12: 43,770,323-43,778,120 , GRCh37.p13 chr12: 44,164,126-44,171,923 IRAK4
    nsv6922498copy number variation1nstd229human GRCh38 chr12: 43,747,333-43,785,141 , GRCh37.p13 chr12: 44,141,136-44,178,944 IRAK4, PUS7L
    nsv6920023copy number variation1nstd229human GRCh38 chr12: 43,756,897-43,757,383 , GRCh37.p13 chr12: 44,150,700-44,151,186 PUS7L, IRAK4
    nsv6918864copy number variation1nstd229human GRCh38 chr12: 43,761,388-43,779,576 , GRCh37.p13 chr12: 44,155,191-44,173,379 IRAK4
    nsv6637776copy number variation1nstd102humanUncertain significance GRCh37 chr12: 44,080,990-44,354,797 , GRCh38.p12 chr12: 43,687,187-43,960,994 PUS7L, TMEM117, 2 more genes
    nsv6589303inversion1nstd223human GRCh38 chr12: 43,787,929-43,788,564 , GRCh37.p13 chr12: 44,181,732-44,182,367 IRAK4
    nsv6474050copy number variation1nstd223human GRCh38 chr12: 43,775,914-43,788,573 , GRCh37.p13 chr12: 44,169,717-44,182,376 IRAK4
    nsv6468872copy number variation1nstd223human GRCh38 chr12: 43,788,626-43,793,160 , GRCh37.p13 chr12: 44,182,429-44,186,963 TWF1, IRAK4
    nsv6456362copy number variation1nstd223human GRCh38 chr12: 43,784,309-43,784,818 , GRCh37.p13 chr12: 44,178,112-44,178,621 IRAK4
    nsv6309416copy number variation1nstd102humanUncertain significance GRCh37 chr12: 44,180,182-44,180,518 , GRCh38.p12 chr12: 43,786,379-43,786,715 IRAK4
    nsv6309268copy number variation1nstd102humanPathogenic GRCh37 chr12: 44,176,090-44,176,313 , GRCh38.p12 chr12: 43,782,287-43,782,510 IRAK4
    nsv6132424copy number variation1nstd213human GRCh37 chr12: 43,770,000-44,920,001 , GRCh38.p12 chr12: 43,376,197-44,526,218 PUS7L, LOC400026, 9 more genes
    nsv6023494copy number variation1nstd212human GRCh38 chr12: 43,764,656-43,765,346 , GRCh37.p13 chr12: 44,158,459-44,159,149 IRAK4
    nsv5945121copy number variation1nstd209human GRCh38 chr12: 43,762,002-43,762,126 , GRCh37.p13 chr12: 44,155,805-44,155,929 IRAK4
    nsv5564512copy number variation1nstd102humanLikely pathogenic GRCh37 chr12: 37,873,948-49,578,619 , GRCh38.p12 chr12: 37,480,146-49,184,836 ADCY6, ABCD2, 187 more genes
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