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Items: 1 to 20 of 157

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5381285copy number variation2nstd102humanUncertain significance GRCh37 chr1: 130,980,840-248,900,000 , GRCh38.p12 chr1: 120,324,463-248,736,699 , DCST1, 2428 more genes
    nsv4767860inversion1nstd199human GRCh37 chr1: 17,051,740-234,912,187 , GRCh38.p12 chr1: 16,725,245-234,776,440 , ABCA4, 4269 more genes
    nsv4751400inversion1nstd199human GRCh37 chr1: 17,125,657-234,919,132 , GRCh38.p12 chr1: 16,799,162-234,783,385 , ABCA4, 4264 more genes
    nsv4673954copy number variation1nstd102humanUncertain significance GRCh37 chr1: 154,898,854-155,242,457 , GRCh38.p12 chr1: 154,926,378-155,272,666 GBA1LP, PBXIP1, 31 more genes
    nsv4579739copy number variation2nstd183human GRCh37 chr1: 155,227,059-155,262,674 , GRCh38.p12 chr1: 155,257,268-155,292,883 , GRCh38.p12 chr1|NW_003315906.1: 62,291-97,906 PKLR, HCN3, 2 more genes
    nsv4412627copy number variation1nstd174human GRCh37 chr1: 155,180,848-155,230,610 , GRCh38.p12 chr1: 155,211,057-155,260,819 GBA1, GBA1LP, 4 more genes
    nsv4397258copy number variation1nstd174human GRCh37 chr1: 155,180,791-155,234,821 , GRCh38.p12 chr1: 155,211,000-155,265,030 , GRCh38.p12 chr1|NW_003315906.1: 1-70,053 CLK2, GBA1, 6 more genes
    nsv3970158insertion1nstd168human GRCh38 chr1: 155,233,397-155,264,748 , GRCh37.p13 chr1: 155,203,188-155,234,539 CLK2, GBA1, 3 more genes
    nsv3968124copy number variation1nstd168human GRCh38 chr1: 155,261,977-155,285,340 , GRCh37.p13 chr1: 155,231,768-155,255,131 CLK2, HCN3, 1 more genes
    nsv3918947copy number variation1nstd102humanPathogenic NCBI36 chr1: 144,475,856-247,199,719 , GRCh37.p13 chr1: 145,764,499-249,233,096 , GRCh38.p12 chr1: 120,836,007-206,268,643 , LOC101060227, 1608 more genes
    nsv3917016copy number variation1nstd102humanPathogenic NCBI36 chr1: 152,220,775-155,340,341 , GRCh37.p13 chr1: 153,954,151-157,073,717 , GRCh38.p12 chr1: 153,981,675-157,103,925 SMU1P1, LOC100419798, 152 more genes
    nsv3912840copy number variation1nstd102humanPathogenic NCBI36 chr1: 144,764,751-247,199,719 , GRCh37.p13 chr1: 146,053,394-249,233,096 , GRCh38.p12 chr1: 120,836,007-206,268,643 , CRB1, 1608 more genes
    nsv3909898inversion1nstd102humanLikely pathogenic GRCh38.p12 chr1: 154,158,509-156,874,085 , GRCh37 chr1: 154,130,985-156,843,877 ADAR, BGLAP, 136 more genes
    nsv3906950copy number variation1nstd102humanPathogenic GRCh38 chr1: 154,566,501-157,624,084 , NCBI36 chr1: 152,805,601-155,860,498 , GRCh37 chr1: 154,538,977-157,593,874 ARHGEF2-AS2, INSRR, 131 more genes
    nsv3906070copy number variation1nstd102humanPathogenic NCBI36 chr1: 152,814,789-153,529,316 , GRCh37 chr1: 154,548,165-155,262,692 , GRCh38 chr1: 154,575,689-155,292,901 PBXIP1, ZBTB7B, 37 more genes
    nsv3900459copy number variation1nstd102humanPathogenic GRCh38 chr1: 149,854,269-180,267,197 , NCBI36 chr1: 148,092,455-178,502,955 , GRCh37 chr1: 149,825,831-180,236,332 HORMAD1, BCAN-AS1, 923 more genes
    nsv3892457copy number variation1nstd102humanUncertain significance GRCh38 chr1: 155,182,457-155,787,428 , GRCh37 chr1: 155,154,933-155,757,219 , NCBI36 chr1: 153,421,557-154,023,843 DAP3P1, GBA1LP, 35 more genes
    nsv3890833copy number variation1nstd102humanUncertain significance NCBI36 chr1: 153,245,646-153,700,678 , GRCh37 chr1: 154,979,022-155,434,054 , GRCh38 chr1: 155,006,546-155,464,263 CLK2, DCST2, 32 more genes
    nsv3885206copy number variation1nstd102humanPathogenic GRCh37 chr1: 82,154-249,218,992 , GRCh38.p12 chr1: 82,154-248,924,793 , SNAP47, 4927 more genes
    nsv3884414copy number variation2nstd102humanPathogenic GRCh37 chr1: 849,467-249,224,684 , GRCh38.p12 chr1: 914,087-248,930,485 , RNU1-153P, 4887 more genes
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