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Items: 1 to 20 of 141

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5942572copy number variation1nstd209human GRCh38 chr17: 54,475,297-54,477,516 , GRCh37.p13 chr17: 52,552,658-52,554,877 ISCA1P3
    nsv5885320copy number variation2nstd209human GRCh38 chr17: 54,475,641-54,476,740 , GRCh37.p13 chr17: 52,553,002-52,554,101 ISCA1P3
    nsv5874334copy number variation2nstd209human GRCh38 chr17: 54,475,341-54,477,196 , GRCh37.p13 chr17: 52,552,702-52,554,557 ISCA1P3
    nsv5554090sequence alteration1nstd206human GRCh38 chr17: 32,109,732-67,925,723 , GRCh37.p13 chr17: 30,436,751-65,921,839 , APOH, 1099 more genes
    nsv5532440copy number variation1nstd206human GRCh38 chr17: 54,417,569-54,493,238 , GRCh37.p13 chr17: 52,494,930-52,570,599 ISCA1P3
    nsv5026531copy number variation1nstd200human GRCh38 chr17: 54,417,569-54,493,238 , GRCh37.p13 chr17: 52,494,930-52,570,599 ISCA1P3
    nsv5026529copy number variation1nstd200human GRCh38 chr17: 54,345,674-54,482,797 , GRCh37.p13 chr17: 52,423,035-52,560,158 ISCA1P3
    nsv4680468copy number variation1nstd189human GRCh37.p13 chr17: 51,983,384-52,635,627 , GRCh38.p12 chr17: 53,906,023-54,558,266 LOC100128713, ISCA1P3, 1 more genes
    nsv4457639copy number variation1nstd102humanUncertain significance GRCh37 chr17: 51,564,311-52,793,787 , GRCh38.p12 chr17: 53,486,950-54,716,426 RPS2P48, LOC107985001, 4 more genes
    nsv4330632inversion1nstd166human GRCh37.p13 chr17: 18,838,526-72,042,289 , GRCh38.p12 chr17: 18,935,213-74,046,150 , ACACA, 1499 more genes
    nsv3920880copy number variation1nstd102humanPathogenic GRCh38 chr17: 49,974,533-56,807,609 , NCBI36 chr17: 45,406,896-52,239,969 , GRCh37 chr17: 48,051,897-54,884,970 LOC107984983, LOC102724732, 85 more genes
    nsv3919874copy number variation1nstd102humanUncertain significance NCBI36 chr17: 49,865,990-50,008,709 , GRCh37.p13 chr17: 52,510,991-52,653,710 , GRCh38.p12 chr17: 54,433,630-54,576,349 ISCA1P3
    nsv3916185copy number variation1nstd102humanUncertain significance GRCh37 chr17: 51,653,200-52,729,855 , GRCh38 chr17: 53,575,839-54,652,494 , NCBI36 chr17: 49,008,199-50,084,854 KIF2B, LOC107984982, 4 more genes
    nsv3915195copy number variation1nstd102humanUncertain significance NCBI36 chr17: 49,008,254-50,084,867 , GRCh38 chr17: 53,575,894-54,652,507 , GRCh37 chr17: 51,653,255-52,729,868 KIF2B, LOC107984982, 4 more genes
    nsv3914783copy number variation1nstd102humanPathogenic NCBI36 chr17: 16,698,288-78,654,742 , GRCh37.p13 chr17: 16,757,563-81,048,189 , GRCh38.p12 chr17: 16,854,249-83,103,577 LOC105371922, GJD3, 1855 more genes
    nsv3913552copy number variation1nstd102humanPathogenic GRCh38 chr17: 36,449,220-75,053,130 , NCBI36 chr17: 54,950,518-70,560,820 , GRCh37 chr17: 57,595,736-73,049,225 RNU6-131P, ZNF652, 1075 more genes
    nsv3911811copy number variation1nstd102humanPathogenic NCBI36 chr17: 31,824,931-78,654,742 , GRCh37.p13 chr17: 34,750,818-81,048,189 , GRCh38.p12 chr17: 36,382,248-83,103,577 PRPSAP1, CACNG1, 1350 more genes
    nsv3911563copy number variation1nstd102humanPathogenic NCBI36 chr17: 45,918,236-63,677,950 , GRCh37 chr17: 48,563,237-65,936,105 , GRCh38 chr17: 36,449,220-68,170,214 PLEKHH3, CHCT1, 958 more genes
    nsv3909511copy number variation1nstd102humanPathogenic GRCh37 chr17: 42,580,684-81,085,615 , GRCh38.p12 chr17: 44,503,316-83,137,846 FOXK2, SOCS3-DT, 958 more genes
    nsv3907261copy number variation2nstd102humanPathogenic GRCh37 chr17: 526-81,041,938 , GRCh38.p12 chr17: 150,733-83,084,062 SMURF2, LOC112268199, 2366 more genes
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