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Items: 1 to 20 of 352

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7148140copy number variation1nstd102humanPathogenic GRCh38 chrX: 23,730,430-32,849,918 , GRCh37.p13 chrX: 23,748,547-32,868,035 ARX, LOC107985632, 85 more genes
    nsv7148046copy number variation1nstd102humanPathogenic GRCh38 chrX: 25,013,828-25,017,089 , GRCh37 chrX: 25,031,945-25,035,206 ARX
    nsv7137063copy number variation1nstd102humanPathogenic GRCh37 chrX: 200,855-155,240,074 , GRCh38.p12 chrX: 284,188-156,010,409 RN7SL581P, HMGB1P32, 2151 more genes
    nsv7098251copy number variation2nstd102humanPathogenic, Uncertain significance GRCh37 chrX: 24,483,573-25,033,854 , GRCh38.p12 chrX: 24,465,456-25,015,737 PCYT1B-AS1, PCYT1B, 8 more genes
    nsv7098016copy number variation1nstd102humanUncertain significance GRCh37 chrX: 24,512,839-25,033,854 , GRCh38.p12 chrX: 24,494,722-25,015,737 EEF1B2P3, PDK3, 8 more genes
    nsv7093061copy number variation1nstd102humanPathogenic GRCh38 chrX: 25,013,536-25,013,617 , GRCh37 chrX: 25,031,653-25,031,734 ARX
    nsv7086300copy number variation1nstd229human GRCh38 chrX: 24,982,034-25,110,694 , GRCh37.p13 chrX: 25,000,151-25,128,811 RN7SL91P, PAFAH1B2P1, 2 more genes
    nsv7086273copy number variation1nstd229human GRCh38 chrX: 24,648,380-25,614,602 , GRCh37.p13 chrX: 24,666,497-25,632,719 LOC107985652, POLA1, 10 more genes
    nsv7086252copy number variation1nstd229human GRCh38 chrX: 24,357,128-25,105,439 , GRCh37.p13 chrX: 24,375,245-25,123,556 EEF1B2P3, PDK3, 12 more genes
    nsv7086247copy number variation1nstd229human GRCh38 chrX: 24,287,892-25,219,400 , GRCh37.p13 chrX: 24,306,009-25,237,517 PDK3, EEF1B2P3, 14 more genes
    nsv7086101copy number variation1nstd229human GRCh38 chrX: 19,663,657-28,237,068 , GRCh37.p13 chrX: 19,681,775-28,255,185 MAGEB18, RPS6KA3, 89 more genes
    nsv7037605inversion1nstd229human GRCh38 chrX: 18,692,586-26,419,471 , GRCh37.p13 chrX: 18,710,705-26,437,588 PPEF1-AS1, MAP7D2, 79 more genes
    nsv7034193inversion1nstd229human GRCh38 chrX: 24,736,694-25,265,218 , GRCh37.p13 chrX: 24,754,811-25,283,335 POLA1, PAFAH1B2P1, 5 more genes
    nsv7020068inversion1nstd229human GRCh38 chrX: 25,008,000-25,010,956 , GRCh37.p13 chrX: 25,026,117-25,029,073 ARX
    nsv6636147copy number variation1nstd102humanPathogenic GRCh37 chrX: 24,879,855-32,902,136 , GRCh38.p12 chrX: 24,861,738-32,884,019 RNA5SP500, MAGEB6, 64 more genes
    nsv6636122copy number variation1nstd102humanPathogenic GRCh37 chrX: 24,675,165-31,490,279 , GRCh38.p12 chrX: 24,657,048-31,472,162 SCARNA23, CKS1BP6, 65 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
    nsv6315577complex substitution1nstd102humanPathogenic GRCh37 chrX: 590,376-56,315,041 , GRCh38.p12 chrX: 629,641-56,288,608 ACTG1P10, NR0B1, 778 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
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