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Items: 1 to 20 of 430

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7137063copy number variation1nstd102humanPathogenic GRCh37 chrX: 200,855-155,240,074 , GRCh38.p12 chrX: 284,188-156,010,409 RN7SL581P, HMGB1P32, 2151 more genes
    nsv7098867copy number variation1nstd102humanPathogenic GRCh37 chrX: 200,855-6,069,814 , GRCh38.p12 chrX: 284,188-6,151,773 RPL14P5, NLGN4X, 64 more genes
    nsv7069931copy number variation1nstd229human GRCh38 chrX: 3,689,674-4,270,789 , GRCh37.p13 chrX: 3,607,715-4,188,830 RPS27AP20, FAM239B, 8 more genes
    nsv7059872copy number variation1nstd229human GRCh38 chrX: 3,621,338-5,069,395 , GRCh37.p13 chrX: 3,539,379-4,987,436 FAM239B, FAM239C, 10 more genes
    nsv6636165copy number variation1nstd102humanPathogenic GRCh37 chrX: 2,703,633-14,515,021 , GRCh38.p12 chrX: 2,785,592-14,496,899 GPX1P1, XG, 108 more genes
    nsv6636029copy number variation1nstd102humanUncertain significance GRCh37 chrX: 1,626,596-7,832,236 , GRCh38.p12 chrX: 1,507,703-7,864,195 ARSL, FAM239A, 53 more genes
    nsv6635989copy number variation1nstd102humanLikely pathogenic GRCh37 chrX: 1,932,788-9,676,331 , GRCh38.p12 chrX: 1,813,895-9,708,291 STS, ARSD, 67 more genes
    nsv6635241copy number variation1nstd227human GRCh37 chrX: 1,853,035-4,151,086 , GRCh38.p12 chrX: 1,734,142-4,233,045 ARSD, ARSL, 33 more genes
    nsv6634242copy number variation1nstd224human GRCh37 chrX: 1-155,270,560 , GRCh38.p12 chrX: 10,001-156,030,895 NR0B1, ALAS2, 2154 more genes
    nsv6634135copy number variation1nstd224human GRCh37 chrX: 2,700,157-26,836,730 , GRCh38.p12 chrX: 2,782,116-26,818,613 AMELX, ARSF, 258 more genes
    nsv6633868copy number variation1nstd224human GRCh37 chrX: 3,595,827-4,170,897 , GRCh38.p12 chrX: 3,677,786-4,252,856 PRKX, LOC389906, 8 more genes
    nsv6633811copy number variation1nstd224human GRCh37 chrX: 3,183,507-4,293,277 , GRCh38.p12 chrX: 3,265,466-4,375,236 FAM239B, TRI-GAT1-1, 15 more genes
    nsv6315577complex substitution1nstd102humanPathogenic GRCh37 chrX: 590,376-56,315,041 , GRCh38.p12 chrX: 629,641-56,288,608 ACTG1P10, NR0B1, 778 more genes
    nsv6315454copy number variation1nstd102humanPathogenic GRCh37 chrX: 168,546-10,368,820 , GRCh38.p12 chrX: 251,879-10,400,780 LOC107985675, PRKX-AS1, 101 more genes
    nsv6315430copy number variation1nstd102humanPathogenic GRCh37 chrX: 168,546-11,080,743 , GRCh38.p12 chrX: 251,879-11,062,623 RPS27AP20, PPP2R3B, 103 more genes
    nsv6315393copy number variation1nstd102humanPathogenic GRCh37 chrX: 61,545-155,226,048 , GRCh38.p12 chrX: 11,545-155,996,383 H2BP8, LOC101060199, 2151 more genes
    nsv6315331copy number variation4nstd102humanPathogenic GRCh37 chrX: 1-155,270,560 , GRCh38.p12 chrX: 10,001-156,030,895 PLAC1, PGK1P1, 2154 more genes
    nsv6315330copy number variation1nstd102humanPathogenic GRCh37 chrX: 168,546-57,841,304 , GRCh38.p12 chrX: 251,879-57,814,871 NPM1P9, UBE2E4P, 799 more genes
    nsv6314786copy number variation1nstd220human GRCh37 chrX: 2,795,214-17,648,380 , GRCh38.p12 chrX: 2,877,173-17,630,260 AMELX, SHROOM2, 156 more genes
    nsv6314783copy number variation1nstd220human GRCh37 chrX: 2,795,214-16,240,667 , GRCh38.p12 chrX: 2,877,173-16,222,544 AMELX, SHROOM2, 137 more genes
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