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Items: 1 to 20 of 352

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7148175copy number variation1nstd102humanPathogenic GRCh38 chr1: 230,178,121-243,646,135 , GRCh37.p13 chr1: 230,313,867-243,809,437 AGT, MAP10, 221 more genes
    nsv7148158copy number variation1nstd102humanPathogenic GRCh38 chr1: 235,215,476-247,005,888 , GRCh37.p13 chr1: 235,378,791-247,169,190 RNU6-747P, LINC01139, 172 more genes
    nsv7099270copy number variation1nstd231human GRCh38.p12 chr1: 237,610,040-242,246,069 , GRCh37 chr1: 237,773,340-242,409,371 CHML, CHRM3, 59 more genes
    nsv7095520copy number variation1nstd102humanUncertain significance GRCh37 chr1: 241,661,128-244,218,672 , GRCh38.p12 chr1: 241,497,828-244,055,370 LOC105373231, LOC105373234, 39 more genes
    nsv7093371copy number variation1nstd102humannot provided GRCh37 chr1: 224,230,307-243,181,599 , GRCh38.p12 chr1: 224,042,605-243,018,297 RPL36P6, MTND4LP21, 377 more genes
    nsv7052317inversion1nstd229human GRCh38 chr1: 241,490,183-241,546,459 , GRCh37.p13 chr1: 241,653,483-241,709,759 KMO, FH
    nsv7050815inversion1nstd229human GRCh38 chr1: 240,664,933-241,655,110 , GRCh37.p13 chr1: 240,828,233-241,818,412 THAP12P8, OPN3, 12 more genes
    nsv7048087inversion1nstd229human GRCh38 chr1: 240,132,685-242,030,818 , GRCh37.p13 chr1: 240,295,985-242,194,120 RPS11P2, MIR3123, 27 more genes
    nsv7040493inversion1nstd229human GRCh38 chr1: 240,436,239-242,512,823 , GRCh37.p13 chr1: 240,599,539-242,676,125 CFL1P4, RNU5F-8P, 34 more genes
    nsv7038410inversion1nstd229human GRCh38 chr1: 240,665,018-241,655,164 , GRCh37.p13 chr1: 240,828,318-241,818,466 LOC100506929, MIR3123, 12 more genes
    nsv6678068copy number variation1nstd229human GRCh38 chr1: 241,569,270-241,580,963 , GRCh37.p13 chr1: 241,732,570-241,744,265 KMO
    nsv6676598copy number variation1nstd229human GRCh38 chr1: 241,569,301-241,582,700 , GRCh37.p13 chr1: 241,732,601-241,746,002 KMO
    nsv6675142copy number variation1nstd229human GRCh38 chr1: 241,577,301-241,587,900 , GRCh37.p13 chr1: 241,740,603-241,751,202 KMO
    nsv6674357copy number variation1nstd229human GRCh38 chr1: 241,568,801-241,581,200 , GRCh37.p13 chr1: 241,732,101-241,744,502 KMO
    nsv6673163copy number variation1nstd229human GRCh38 chr1: 241,544,725-241,547,143 , GRCh37.p13 chr1: 241,708,025-241,710,443 KMO
    nsv6673142copy number variation1nstd229human GRCh38 chr1: 240,779,703-242,915,971 , GRCh37.p13 chr1: 240,943,003-243,079,273 OPN3, LOC107985466, 30 more genes
    nsv6672996copy number variation1nstd229human GRCh38 chr1: 241,557,019-241,563,601 , GRCh37.p13 chr1: 241,720,319-241,726,901 KMO
    nsv6672742copy number variation1nstd229human GRCh38 chr1: 241,326,784-241,678,502 , GRCh37.p13 chr1: 241,490,084-241,841,804 KMO, RGS7, 4 more genes
    nsv6671079copy number variation1nstd229human GRCh38 chr1: 241,569,001-241,583,100 , GRCh37.p13 chr1: 241,732,301-241,746,402 KMO
    nsv6664203copy number variation1nstd229human GRCh38 chr1: 241,529,601-241,537,700 , GRCh37.p13 chr1: 241,692,901-241,701,000 KMO
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