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Items: 1 to 20 of 130

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5423972copy number variation1nstd206human GRCh38 chr1: 155,047,651-155,175,025 , GRCh37.p13 chr1: 155,020,127-155,147,501 DCST1, EFNA4, 9 more genes
    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
    nsv5211686copy number variation1nstd204human GRCh38.p13 chr1: 153,974,901-155,189,600 , GRCh37.p13 chr1: 153,947,377-155,161,231 JTB, PYGO2-AS1, 56 more genes
    nsv5203279copy number variation1nstd204human GRCh38.p13 chr1: 154,942,701-155,189,300 , GRCh37.p13 chr1: 154,915,177-155,160,979 MUC1, MIR4258, 21 more genes
    nsv4897514copy number variation1nstd200human GRCh38 chr1: 155,045,696-155,071,730 , GRCh37.p13 chr1: 155,018,172-155,044,206 ADAM15, DCST1-AS1, 2 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
    nsv4370099copy number variation2nstd173human GRCh37 chr1: 155,017,823-155,211,654 , GRCh38.p12 chr1: 155,045,347-155,241,863 THBS3, ADAM15, 17 more genes
    nsv4058975copy number variation1nstd166human GRCh37.p13 chr1: 155,004,645-155,043,477 , GRCh38.p12 chr1: 155,032,169-155,071,001 DCST1-AS1, ADAM15, 3 more genes
    nsv4058865copy number variation1nstd166human GRCh37.p13 chr1: 155,018,172-155,044,206 , GRCh38.p12 chr1: 155,045,696-155,071,730 DCST1, DCST1-AS1, 2 more genes
    nsv4057815copy number variation1nstd166human GRCh37.p13 chr1: 155,031,000-155,042,000 , GRCh38.p12 chr1: 155,058,524-155,069,524 EFNA4, DCST1-AS1, 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
    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
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