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Items: 1 to 20 of 307

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7137157inversion1nstd234human GRCh37 chrX: 31,626,542-82,320,140 , GRCh38.p12 chrX: 31,608,425-83,065,132 ABCB7, ACTG1P10, 775 more genes
    nsv7137063copy number variation1nstd102humanPathogenic GRCh37 chrX: 200,855-155,240,074 , GRCh38.p12 chrX: 284,188-156,010,409 RN7SL581P, HMGB1P32, 2151 more genes
    nsv7091710copy number variation1nstd229human GRCh38 chrX: 51,664,492-51,745,517 , GRCh37.p13 chrX: 51,407,424-51,488,613 , GRCh37.p13 chrX|NW_004070877.1: 1,377,607-1,458,632 CENPVL1, GSPT2, 1 more genes
    nsv7028188inversion1nstd229human GRCh38 chrX: 48,271,055-52,545,048 , GRCh37.p13 chrX|NW_004070877.1: 1-2,258,163 SSXP8, CACNA1F, 141 more genes
    nsv7025237inversion1nstd229human GRCh38 chrX: 50,557,525-57,228,328 , GRCh37.p13 chrX|NW_004070877.1: 270,640-4,110,759 , GRCh37.p13 chrX: 50,300,525-54,424,077 UBQLN2, IPO7P1, 141 more genes
    nsv6637112copy number variation1nstd102humanUncertain significance GRCh37 chrX: 51,368,205-51,428,456 , GRCh38.p12 chrX: 51,625,353-51,685,523 CENPVL2, LOC105373205
    nsv6637069copy number variation1nstd102humanPathogenic GRCh37 chrX: 39,525,562-52,832,596 , GRCh38.p12 chrX: 39,666,308-52,803,572 LOC100419238, NDP, 312 more genes
    nsv6634296copy number variation1nstd102humanUncertain significance GRCh37 chrX: 49,375,617-52,838,206 , GRCh38.p12 chrX: 49,611,014-52,809,182 LOC791098, MAGED1, 80 more genes
    nsv6634242copy number variation1nstd224human GRCh37 chrX: 1-155,270,560 , GRCh38.p12 chrX: 10,001-156,030,895 NR0B1, ALAS2, 2154 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
    nsv6315389copy number variation1nstd102humanPathogenic GRCh37 chrX: 11,522,765-155,233,731 , GRCh38.p12 chrX: 11,504,645-156,004,066 RBMX, LOC100129144, 2042 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
    nsv6137616copy number variation1nstd213human GRCh37 chrX: 49,370,000-52,110,001 , GRCh38.p12 chrX: 49,605,397-52,366,858 CLCN5, GAGE1, 57 more genes
    nsv6137615copy number variation1nstd213human GRCh37 chrX: 49,310,000-52,120,001 , GRCh38.p12 chrX: 49,545,397-52,376,858 CLCN5, GAGE1, 64 more genes
    nsv6137607copy number variation1nstd213human GRCh37 chrX: 4,160,000-52,130,001 , GRCh38.p12 chrX: 4,241,959-52,386,858 NR0B1, AMELX, 630 more genes
    nsv6137606copy number variation1nstd213human GRCh37 chrX: 2,750,000-52,110,001 , GRCh38.p12 chrX: 2,831,959-52,366,858 NR0B1, AMELX, 653 more genes
    nsv6137605copy number variation1nstd213human GRCh37 chrX: 2,680,000-52,110,001 , GRCh38.p12 chrX: 2,761,959-52,366,858 NR0B1, AMELX, 654 more genes
    nsv6137394copy number variation1nstd213human GRCh37 chrX: 49,540,000-52,050,001 , GRCh38.p12 chrX: 49,775,397-52,306,857 CLCN5, AKAP4, 51 more genes
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