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Items: 1 to 20 of 507

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7094207copy number variation1nstd102humanUncertain significance GRCh37 chr12: 133,214,590-133,215,894 , GRCh38.p12 chr12: 132,638,004-132,639,308 POLE
    nsv7094134copy number variation1nstd102humanLikely pathogenic GRCh37 chr12: 133,239,587-133,245,061 , GRCh38.p12 chr12: 132,663,001-132,668,475 POLE
    nsv7094133copy number variation1nstd102humanUncertain significance GRCh37 chr12: 133,234,444-133,263,901 , GRCh38.p12 chr12: 132,657,858-132,687,315 POLE, PXMP2
    nsv7094034copy number variation1nstd102humanLikely pathogenic GRCh37 chr12: 133,210,752-133,210,984 , GRCh38.p12 chr12: 132,634,166-132,634,398 POLE
    nsv7093961copy number variation1nstd102humanPathogenic GRCh37 chr12: 133,225,505-133,252,113 , GRCh38.p12 chr12: 132,648,919-132,675,527 POLE
    nsv7093960copy number variation1nstd102humanUncertain significance GRCh37 chr12: 132,414,268-133,263,901 , GRCh38.p12 chr12: 131,929,723-132,687,315 LOC107987169, NOC4L, 20 more genes
    nsv7093446delins1nstd102humanPathogenic GRCh37 chr12: 133,225,923-133,226,426 , GRCh38 chr12: 132,649,337-132,649,840 POLE
    nsv7093318copy number variation1nstd102humanUncertain significance GRCh37 chr12: 133,235,790-133,235,867 , GRCh38 chr12: 132,659,204-132,659,281 POLE
    nsv7076776inversion1nstd229human GRCh38 chr12: 132,670,295-132,670,486 , GRCh37.p13 chr12: 133,246,881-133,247,072 POLE
    nsv7074199inversion1nstd229human GRCh38 chr12: 123,186,434-132,825,682 , GRCh37.p13 chr12: 123,670,981-133,402,268 PIWIL1, FZD10-AS1, 187 more genes
    nsv7067298inversion1nstd229human GRCh38 chr12: 132,079,777-132,851,356 , GRCh37.p13 chr12: 132,564,322-133,427,942 LRCOL1, PGAM5, 26 more genes
    nsv7060022inversion1nstd229human GRCh38 chr12: 132,642,735-132,642,792 , GRCh37.p13 chr12: 133,219,321-133,219,378 POLE
    nsv6936197copy number variation1nstd229human GRCh38 chr12: 132,513,673-132,826,503 , GRCh37.p13 chr12: 133,090,259-133,403,089 RNA5SP379, ANKLE2, 11 more genes
    nsv6935132copy number variation1nstd229human GRCh38 chr12: 132,645,590-132,649,890 , GRCh37.p13 chr12: 133,222,176-133,226,476 POLE
    nsv6934654copy number variation1nstd229human GRCh38 chr12: 132,501,807-133,106,378 , GRCh37.p13 chr12: 133,078,393-133,682,964 ZNF605, LRCOL1, 23 more genes
    nsv6932805copy number variation1nstd229human GRCh38 chr12: 132,634,230-132,634,427 , GRCh37.p13 chr12: 133,210,816-133,211,013 POLE
    nsv6927841copy number variation1nstd229human GRCh38 chr12: 132,669,263-132,721,388 , GRCh37.p13 chr12: 133,245,849-133,297,974 PGAM5, POLE, 1 more genes
    nsv6927748copy number variation1nstd229human GRCh38 chr12: 132,670,201-132,697,600 , GRCh37.p13 chr12: 133,246,787-133,274,186 POLE, PXMP2
    nsv6927311copy number variation1nstd229human GRCh38 chr12: 132,625,369-132,625,445 , GRCh37.p13 chr12: 133,201,955-133,202,031 POLE
    nsv6920921copy number variation1nstd229human GRCh38 chr12: 132,674,620-132,677,914 , GRCh37.p13 chr12: 133,251,206-133,254,500 POLE
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