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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7147924copy number variation1nstd232human GRCh37.p13 chr12: 103,261,862-103,261,965 , GRCh38.p12 chr12: 102,868,084-102,868,187 PAH
    nsv7140789copy number variation1nstd232human GRCh37.p13 chr12: 103,261,866-103,261,963 , GRCh38.p12 chr12: 102,868,088-102,868,185 PAH
    nsv7094196copy number variation1nstd102humanUncertain significance GRCh37 chr12: 103,288,493-103,352,733 , GRCh38.p12 chr12: 102,894,715-102,958,955 ASCL1, PAH, 1 more genes
    nsv7094195copy number variation1nstd102humanUncertain significance GRCh37 chr12: 103,232,953-103,310,908 , GRCh38.p12 chr12: 102,839,175-102,917,130 PAH
    nsv7094119copy number variation1nstd102humanPathogenic GRCh37 chr12: 103,248,776-103,260,427 , GRCh38.p12 chr12: 102,854,998-102,866,649 PAH
    nsv7093951copy number variation1nstd102humanLikely pathogenic GRCh37 chr12: 103,260,354-103,260,461 , GRCh38.p12 chr12: 102,866,576-102,866,683 PAH
    nsv7093433delins1nstd102humanPathogenic GRCh37 chr12: 103,248,268-103,249,067 , GRCh38 chr12: 102,854,490-102,855,289 PAH
    nsv7074674inversion1nstd229human GRCh38 chr12: 100,072,817-104,989,567 , GRCh37.p13 chr12: 100,466,595-105,383,345 SYCP3, GOLGA2P5, 84 more genes
    nsv7068612inversion1nstd229human GRCh38 chr12: 100,083,131-104,989,539 , GRCh37.p13 chr12: 100,476,909-105,383,317 EID3, RNU6-1068P, 84 more genes
    nsv7058425inversion1nstd229human GRCh38 chr12: 102,846,035-103,364,077 , GRCh37.p13 chr12: 103,239,813-103,757,855 C12orf42-AS1, ASCL1, 3 more genes
    nsv6937277copy number variation1nstd229human GRCh38 chr12: 102,853,528-102,853,884 , GRCh37.p13 chr12: 103,247,306-103,247,662 PAH
    nsv6936873copy number variation1nstd229human GRCh38 chr12: 102,901,785-102,906,410 , GRCh37.p13 chr12: 103,295,563-103,300,188 PAH
    nsv6936112copy number variation1nstd229human GRCh38 chr12: 102,855,885-102,868,944 , GRCh37.p13 chr12: 103,249,663-103,262,722 PAH
    nsv6931557copy number variation1nstd229human GRCh38 chr12: 102,917,537-102,921,296 , GRCh37.p13 chr12: 103,311,315-103,315,074 PAH
    nsv6924706copy number variation1nstd229human GRCh38 chr12: 102,857,301-102,861,100 , GRCh37.p13 chr12: 103,251,079-103,254,878 PAH
    nsv6923427copy number variation1nstd229human GRCh38 chr12: 102,893,268-102,899,866 , GRCh37.p13 chr12: 103,287,046-103,293,644 PAH
    nsv6922635copy number variation1nstd229human GRCh38 chr12: 96,115,345-104,800,221 , GRCh37.p13 chr12: 96,509,123-105,193,999 RNY1P16, CHST11, 121 more genes
    nsv6922602copy number variation1nstd229human GRCh38 chr12: 102,930,631-102,940,965 , GRCh37.p13 chr12: 103,324,409-103,334,743 LOC112267865, PAH
    nsv6922310copy number variation1nstd229human GRCh38 chr12: 102,926,816-102,927,051 , GRCh37.p13 chr12: 103,320,594-103,320,829 LOC112267865, PAH
    nsv6921825copy number variation1nstd229human GRCh38 chr12: 102,843,549-102,843,732 , GRCh37.p13 chr12: 103,237,327-103,237,510 PAH
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