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Items: 1 to 20 of 293

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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
    nsv7098530copy number variation1nstd102humanUncertain significance GRCh37 chrX: 40,440,318-41,782,241 , GRCh38.p12 chrX: 40,581,066-41,922,988 RN7SL144P, TNIP2P1, 27 more genes
    nsv7098307copy number variation3nstd102humanPathogenic, Uncertain significance GRCh37 chrX: 39,911,362-41,782,241 , GRCh38.p12 chrX: 40,052,109-41,922,988 LOC107985687, BCOR, 33 more genes
    nsv7081039copy number variation1nstd229human GRCh38 chrX: 40,831,650-40,831,738 , GRCh37.p13 chrX: 40,690,903-40,690,991 TNIP2P1
    nsv7081038copy number variation1nstd229human GRCh38 chrX: 40,827,305-40,852,804 , GRCh37.p13 chrX: 40,686,558-40,712,057 MKRN4P, TNIP2P1
    nsv7081037copy number variation1nstd229human GRCh38 chrX: 40,788,607-40,837,276 , GRCh37.p13 chrX: 40,647,860-40,696,529 TNIP2P1, MKRN4P
    nsv7081027copy number variation1nstd229human GRCh38 chrX: 40,615,160-40,942,802 , GRCh37.p13 chrX: 40,474,412-40,802,055 TNIP2P1, MED14, 9 more genes
    nsv7081009copy number variation1nstd229human GRCh38 chrX: 40,487,001-41,078,400 , GRCh37.p13 chrX: 40,346,253-40,937,653 CXorf38, MPC1L, 12 more genes
    nsv7080985copy number variation1nstd229human GRCh38 chrX: 40,263,272-41,326,727 , GRCh37.p13 chrX: 40,122,525-41,185,980 CLIC4P3, MPC1L, 19 more genes
    nsv7080971copy number variation1nstd229human GRCh38 chrX: 40,188,484-41,072,065 , GRCh37.p13 chrX: 40,047,737-40,931,318 CXorf38, MPC1L, 14 more genes
    nsv7033650inversion1nstd229human GRCh38 chrX: 37,770,465-43,935,549 , GRCh37.p13 chrX: 37,669,767-43,794,795 RN7SL15P, NANOGP10, 79 more genes
    nsv7032924inversion1nstd229human GRCh38 chrX: 34,355,734-41,258,887 , GRCh37.p13 chrX: 34,373,851-41,118,140 IMPDH1P2, RPL32P36, 81 more genes
    nsv7023589inversion1nstd229human GRCh38 chrX: 40,822,419-40,832,131 , GRCh37.p13 chrX: 40,681,672-40,691,384 TNIP2P1
    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
    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
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