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Items: 1 to 20 of 153

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv6975366copy number variation1nstd229human GRCh38 chr14: 74,274,557-74,288,289 , GRCh37.p13 chr14: 74,741,260-74,754,992 ABCD4
    nsv6970078copy number variation1nstd229human GRCh38 chr14: 74,279,186-74,287,896 , GRCh37.p13 chr14: 74,745,889-74,754,599 ABCD4
    nsv6969565copy number variation1nstd229human GRCh38 chr14: 74,290,661-74,290,767 , GRCh37.p13 chr14: 74,757,364-74,757,470 ABCD4
    nsv6958982copy number variation1nstd229human GRCh38 chr14: 74,298,906-74,303,505 , GRCh37.p13 chr14: 74,765,609-74,770,208 VRTN, ABCD4, 1 more genes
    nsv6634490copy number variation1nstd102humanLikely pathogenic GRCh37 chr14: 74,764,773-74,769,768 , GRCh38.p12 chr14: 74,298,070-74,303,065 ABCD4, VRTN
    nsv6495168copy number variation1nstd223human GRCh38 chr14: 74,298,906-74,303,501 , GRCh37.p13 chr14: 74,765,609-74,770,204 ABCD4, VRTN, 1 more genes
    nsv6489379copy number variation1nstd223human GRCh38 chr14: 74,252,507-74,284,141 , GRCh37.p13 chr14: 74,719,210-74,750,844 VSX2, ABCD4
    nsv6315524copy number variation1nstd102humanPathogenic GRCh37 chr14: 37,671,058-106,985,955 , GRCh38.p12 chr14: 37,201,853-106,530,013 PAPOLA-DT, LOC105378180, 1338 more genes
    nsv6309705copy number variation1nstd102humanPathogenic GRCh37 chr14: 74,766,231-74,769,615 , GRCh38.p12 chr14: 74,299,528-74,302,912 VRTN, ABCD4
    nsv6291477copy number variation1nstd102humanUncertain significance GRCh37 chr14: 74,490,251-75,116,040 , GRCh38.p12 chr14: 74,023,548-74,649,337 RN7SL530P, RNY4P21, 19 more genes
    nsv6241518mobile element insertion1nstd215human GRCh38 chr14: 74,296,384-74,296,384 , GRCh37.p13 chr14: 74,763,087-74,763,087 ABCD4
    nsv6132792copy number variation1nstd213human GRCh37 chr14: 74,650,000-75,390,001 , GRCh38.p12 chr14: 74,183,297-74,923,298 AREL1, NPC2, 23 more genes
    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
    nsv5861081copy number variation1nstd209human GRCh38 chr14: 74,283,126-74,288,925 , GRCh37.p13 chr14: 74,749,829-74,755,628 ABCD4
    nsv5505032copy number variation1nstd206human GRCh38 chr14: 74,290,661-74,290,767 , GRCh37.p13 chr14: 74,757,364-74,757,470 ABCD4
    nsv5357394translocation1nstd200human GRCh38 chr14: 74,290,767-74,290,767 , GRCh38 chr14: 74,290,661-74,290,661 , GRCh37.p13 chr14: 74,757,470-74,757,470 , GRCh37.p13 chr14: 74,757,364-74,757,364 ABCD4
    nsv5301351copy number variation1nstd204human GRCh38.p13 chr14: 74,273,637-74,310,341 , GRCh37.p13 chr14: 74,740,340-74,777,044 SUB1P2, ABCD4, 1 more genes
    nsv5279735copy number variation1nstd204human GRCh38.p13 chr14: 74,272,976-74,309,243 , GRCh37.p13 chr14: 74,739,679-74,775,946 VRTN, SUB1P2, 1 more genes
    nsv5032025inversion1nstd200human GRCh38 chr14: 53,190,097-88,878,877 , GRCh37.p13 chr14: 53,656,815-89,345,221 , IFT43, 578 more genes
    nsv5004796copy number variation1nstd200human GRCh38 chr14: 74,273,660-74,310,317 , GRCh37.p13 chr14: 74,740,363-74,777,020 VRTN, ABCD4, 1 more genes
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