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Items: 1 to 20 of 286

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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
    nsv7092061copy number variation1nstd229human GRCh38 chrX: 55,655,565-55,667,619 , GRCh37.p13 chrX: 55,681,998-55,694,052 XAGE-4
    nsv7092060copy number variation1nstd229human GRCh38 chrX: 55,649,323-55,654,681 , GRCh37.p13 chrX: 55,675,756-55,681,114 XAGE-4
    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
    nsv7024182inversion1nstd229human GRCh38 chrX: 55,283,275-57,909,590 , GRCh37.p13 chrX: 55,309,708-57,936,024 UBQLN2, USP51, 27 more genes
    nsv7019911inversion1nstd229human GRCh38 chrX: 55,655,556-55,655,584 , GRCh37.p13 chrX: 55,681,989-55,682,017 XAGE-4
    nsv6636248copy number variation1nstd102humanLikely pathogenic GRCh37 chrX: 53,731,940-63,932,866 , GRCh38.p12 chrX: 53,704,997-64,712,986 ALAS2, FGD1, 89 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
    nsv6314322complex chromosomal rearrangement2nstd102humanUncertain significance GRCh37 chrX: 52,351,997-52,351,997 , GRCh37 chrX: 55,677,409-55,677,409 , GRCh37 chrX: 55,679,529-55,679,529 , GRCh37 chrX: 52,351,024-52,351,024 , GRCh38.p12 chrX: 52,404,034-52,404,034 , GRCh38.p12 chrX: 52,405,007-52,405,007 , GRCh38.p12 chrX: 55,650,976-55,650,976 , GRCh38.p12 chrX: 55,653,096-55,653,096 XAGE-4
    nsv6313227copy number variation1nstd102humanLikely pathogenic GRCh37 chrX: 52,881,435-55,684,871 , GRCh38.p12 chrX: 52,852,398-55,658,438 ACTG1P10, ALAS2, 64 more genes
    nsv6290656copy number variation1nstd102humanPathogenic GRCh37 chrX: 52,901,458-55,684,871 , GRCh38.p12 chrX: 52,872,427-55,658,438 MTND1P30, ALAS2, 63 more genes
    nsv6137619copy number variation1nstd213human GRCh37 chrX: 52,520,000-58,560,001 , GRCh38.p12 chrX: 52,523,686-58,533,568 ACTG1P10, ALAS2, 106 more genes
    nsv6137618copy number variation1nstd213human GRCh37 chrX: 52,510,000-58,560,001 , GRCh38.p12 chrX: 52,523,686-58,533,568 ACTG1P10, ALAS2, 106 more genes
    nsv6137617copy number variation1nstd213human GRCh37 chrX: 52,480,000-58,240,001 , GRCh38.p12 chrX: 52,523,686-58,213,567 ACTG1P10, ALAS2, 106 more genes
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