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Items: 1 to 20 of 240

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7094166copy number variation1nstd102humanPathogenic GRCh37 chr11: 31,804,921-31,816,356 , GRCh38.p12 chr11: 31,783,373-31,794,808 PAX6, ELP4
    nsv7094165copy number variation1nstd102humanUncertain significance GRCh37 chr11: 31,804,921-31,807,095 , GRCh38.p12 chr11: 31,783,373-31,785,547 ELP4, PAX6
    nsv7093847copy number variation1nstd102humanPathogenic GRCh37 chr11: 31,814,966-31,816,356 , GRCh38.p12 chr11: 31,793,418-31,794,808 PAX6
    nsv7093768copy number variation1nstd102humanPathogenic GRCh37 chr11: 31,625,295-31,822,424 , GRCh38.p12 chr11: 31,603,748-31,800,876 PAX6, ELP4
    nsv7093685copy number variation1nstd102humanPathogenic GRCh37 chr11: 31,822,233-31,823,148 , GRCh38.p12 chr11: 31,800,685-31,801,600 PAX6
    nsv7093684copy number variation1nstd102humanPathogenic GRCh37 chr11: 31,815,560-31,824,402 , GRCh38.p12 chr11: 31,794,012-31,802,854 PAX6
    nsv7093682copy number variation1nstd102humanUncertain significance GRCh37 chr11: 30,253,450-32,460,464 , GRCh38.p12 chr11: 30,231,903-32,438,918 ARL14EP, PAX6, 28 more genes
    nsv7093217copy number variation1nstd102humanPathogenic GRCh38 chr11: 31,793,930-31,794,052 , GRCh37 chr11: 31,815,478-31,815,600 PAX6
    nsv7070141inversion1nstd229human GRCh38 chr11: 29,327,534-32,366,322 , GRCh37.p13 chr11: 29,349,081-32,387,868 PAX6, PAUPAR, 35 more genes
    nsv6912198copy number variation1nstd229human GRCh38 chr11: 31,640,606-31,786,816 , GRCh37.p13 chr11: 31,662,154-31,808,364 PAX6, ELP4
    nsv6910571copy number variation1nstd229human GRCh38 chr11: 31,800,240-31,815,395 , GRCh37.p13 chr11: 31,821,788-31,836,943 PAX6-AS1, PAX6
    nsv6904988copy number variation1nstd229human GRCh38 chr11: 31,803,539-31,810,380 , GRCh37.p13 chr11: 31,825,087-31,831,928 PAX6
    nsv6900150copy number variation1nstd229human GRCh38 chr11: 31,796,636-31,796,699 , GRCh37.p13 chr11: 31,818,184-31,818,247 PAX6
    nsv6638023copy number variation1nstd102humanPathogenic GRCh37 chr11: 31,372,721-38,259,316 , GRCh38.p12 chr11: 31,351,174-38,237,766 THEM7P, LOC105376624, 92 more genes
    nsv6637510copy number variation1nstd102humanPathogenic GRCh37 chr11: 31,794,997-31,822,354 , GRCh38.p12 chr11: 31,773,449-31,800,806 ELP4, PAX6
    nsv6637271copy number variation1nstd102humanUncertain significance GRCh37 chr11: 31,736,984-32,119,792 , GRCh38.p12 chr11: 31,715,436-32,098,246 LOC101928385, RCN1, 8 more genes
    nsv6437411copy number variation1nstd223human GRCh38 chr11: 31,799,101-31,799,500 , GRCh37.p13 chr11: 31,820,649-31,821,048 PAX6
    nsv6309211copy number variation1nstd102humanPathogenic GRCh37 chr11: 31,824,326-31,832,375 , GRCh38.p12 chr11: 31,802,778-31,810,827 PAX6
    nsv6309210copy number variation1nstd102humanPathogenic GRCh37 chr11: 31,804,921-31,812,428 , GRCh38.p12 chr11: 31,783,373-31,790,880 PAX6, ELP4
    nsv6309193copy number variation1nstd102humanUncertain significance GRCh37 chr11: 31,669,269-32,460,464 , GRCh38.p12 chr11: 31,647,721-32,438,918 LOC107984322, PAX6-AS1, 13 more genes
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