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Items: 1 to 20 of 222

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7093499delins1nstd102humanLikely pathogenic GRCh37 chr13: 77,569,985-77,570,062 , GRCh38 chr13: 76,995,850-76,995,927 CLN5, FBXL3
    nsv7075338inversion1nstd229human GRCh38 chr13: 76,983,038-76,993,614 , GRCh37.p13 chr13: 77,557,173-77,567,749 CLN5, FBXL3, 1 more genes
    nsv7065657inversion1nstd229human GRCh38 chr13: 76,225,150-84,243,039 , GRCh37.p13 chr13: 76,799,286-84,817,174 HSPD1P8, ELOCP23, 85 more genes
    nsv7061790inversion1nstd229human GRCh38 chr13: 76,348,646-84,254,120 , GRCh37.p13 chr13: 76,922,782-84,828,255 LINC01068, LOC105370264, 83 more genes
    nsv6638047copy number variation1nstd102humanPathogenic GRCh37 chr13: 75,268,539-115,107,733 , GRCh38.p12 chr13: 74,694,402-114,342,258 CUL4A, LOC105370373, 488 more genes
    nsv6637317copy number variation1nstd102humanUncertain significance GRCh37 chr13: 73,600,015-77,624,907 , GRCh38.p12 chr13: 73,025,877-77,050,772 LOC105370261, BTF3P11, 53 more genes
    nsv6634431copy number variation1nstd102humanPathogenic GRCh37 chr13: 19,253,848-115,108,937 , GRCh38.p12 chr13: 18,679,708-114,343,462 MTUS2-AS1, LOC105370213, 1330 more genes
    nsv6494197copy number variation1nstd223human GRCh38 chr13: 76,977,306-77,105,587 , GRCh37.p13 chr13: 77,551,441-77,679,722 CLN5, FBXL3, 4 more genes
    nsv6493018copy number variation1nstd223human GRCh38 chr13: 76,987,992-76,990,388 , GRCh37.p13 chr13: 77,562,127-77,564,523 DHX9P1, CLN5
    nsv6476075copy number variation1nstd223human GRCh38 chr13: 77,004,387-77,004,858 , GRCh37.p13 chr13: 77,578,522-77,578,993 CLN5, FBXL3
    nsv6475765copy number variation1nstd223human GRCh38 chr13: 77,004,801-77,006,800 , GRCh37.p13 chr13: 77,578,936-77,580,935 CLN5, FBXL3
    nsv6315495copy number variation1nstd102humanPathogenic GRCh37 chr13: 1-115,169,878 , GRCh38.p12 chr13: 18,445,862-114,344,403 RNU6-80P, EFNB2, 1334 more genes
    nsv6314172copy number variation1nstd102humanPathogenic GRCh37 chr13: 75,574,661-87,784,831 , GRCh38.p12 chr13: 75,000,524-87,132,576 LMO7, TBC1D4, 119 more genes
    nsv6314117copy number variation1nstd102humanPathogenic GRCh37 chr13: 36,376,204-80,681,753 , GRCh38.p12 chr13: 35,802,067-80,107,618 RBM26, RNY4P31, 591 more genes
    nsv6314030copy number variation1nstd102humanPathogenic GRCh37 chr13: 19,436,286-114,981,726 , GRCh38.p12 chr13: 18,862,146-114,216,251 RPSAP53, LOC105370213, 1310 more genes
    nsv6309537copy number variation1nstd102humanUncertain significance GRCh37 chr13: 77,566,087-77,575,104 , GRCh38.p12 chr13: 76,991,952-77,000,969 FBXL3, CLN5
    nsv6309493copy number variation1nstd102humanLikely pathogenic GRCh37 chr13: 77,566,176-77,566,487 , GRCh38 chr13: 76,992,041-76,992,352 CLN5, FBXL3
    nsv6291752copy number variation1nstd102humanPathogenic GRCh37 chr13: 59,574,760-89,410,027 , GRCh38.p12 chr13: 59,000,626-88,757,773 GYG1P2, LOC102723968, 284 more genes
    nsv6291487copy number variation1nstd102humanPathogenic GRCh37 chr13: 42,504,540-108,206,269 , GRCh38.p12 chr13: 41,930,404-107,553,921 CALM2P4, RNU6-81P, 778 more genes
    nsv6289999copy number variation1nstd102humanPathogenic GRCh37 chr13: 1-115,169,878 , GRCh38.p12 chr13: 18,445,862-114,344,403 LINC00363, LOC105370118, 1334 more genes
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