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Items: 1 to 20 of 143

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5344050translocation1nstd200human GRCh37 chr1: 10,497,553-10,497,553 , GRCh37 chr1: 10,497,263-10,497,263 , GRCh38.p12 chr1: 10,437,206-10,437,206 , GRCh38.p12 chr1: 10,437,496-10,437,496 CENPS, CENPS-CORT
    nsv4889844copy number variation1nstd200human GRCh38 chr1: 10,437,206-10,437,496 , GRCh37.p13 chr1: 10,497,263-10,497,553 CENPS, CENPS-CORT
    nsv4782931copy number variation1nstd200human GRCh37 chr1: 10,487,884-10,488,834 , GRCh38.p12 chr1: 10,427,827-10,428,777 CENPS-CORT, CENPS
    nsv4681229copy number variation1nstd102humanUncertain significance GRCh37 chr1: 9,770,494-10,690,064 , GRCh38.p12 chr1: 9,710,436-10,630,007 LOC105376717, MIR5697, 23 more genes
    nsv4674003copy number variation1nstd102humanLikely pathogenic GRCh37 chr1: 9,852,396-11,909,475 , GRCh38.p12 chr1: 9,792,338-11,849,418 CLCN6, CORT, 59 more genes
    nsv4454705copy number variation1nstd102humanUncertain significance GRCh37 chr1: 10,246,640-12,841,900 , GRCh38.p12 chr1: 10,186,582-12,781,757 LINC01647, MIR7846, 73 more genes
    nsv4436680complex substitution1nstd102humanUncertain significance GRCh38.p12 chr1: 973,858-24,379,779 , GRCh37 chr1: 909,238-24,706,269 ALPL, RERE, 636 more genes
    nsv4436526complex substitution1nstd102humanUncertain significance GRCh38.p12 chr1: 973,858-16,409,637 , GRCh37 chr1: 909,238-16,736,132 RERE, CA6, 415 more genes
    nsv4436181copy number variation1nstd102humanUncertain significance GRCh37 chr1: 10,333,430-103,467,088 , GRCh38.p12 chr1: 10,273,372-103,001,532 LINC01776, IGSF21-AS1, 1853 more genes
    nsv4436105copy number variation1nstd102humanPathogenic GRCh37 chr1: 82,154-11,784,118 , GRCh38.p12 chr1: 82,154-11,724,061 PARK7, RNF223, 325 more genes
    nsv4045540copy number variation1nstd166human GRCh37.p13 chr1: 10,487,927-10,488,787 , GRCh38.p12 chr1: 10,427,870-10,428,730 CENPS, CENPS-CORT
    nsv4035612copy number variation1nstd166human GRCh37.p13 chr1: 10,502,523-10,502,926 , GRCh38.p12 chr1: 10,442,466-10,442,869 CENPS, CENPS-CORT
    nsv3962041copy number variation1nstd168human GRCh38 chr1: 10,427,277-10,452,009 , GRCh37.p13 chr1: 10,487,334-10,512,066 CENPS, CENPS-CORT, 1 more genes
    nsv3913790copy number variation1nstd102humanPathogenic NCBI36 chr1: 10,370,726-15,979,918 , GRCh37.p13 chr1: 10,448,139-16,107,331 , GRCh38.p12 chr1: 10,388,082-15,780,836 PRAMEF15, LOC105376759, 149 more genes
    nsv3912305copy number variation1nstd102humanPathogenic NCBI36 chr1: 8,912,677-16,390,632 , GRCh37.p13 chr1: 8,990,090-16,518,045 , GRCh38.p12 chr1: 8,930,031-16,191,550 DDI2, RN7SL614P, 200 more genes
    nsv3908546copy number variation1nstd102humanPathogenic GRCh38 chr1: 6,554,885-16,056,011 , GRCh37 chr1: 6,614,945-16,382,506 , NCBI36 chr1: 6,537,532-16,255,093 LOC105376717, LOC107984915, 244 more genes
    nsv3905483copy number variation1nstd102humanPathogenic GRCh38 chr1: 6,303,641-15,799,093 , NCBI36 chr1: 6,286,288-15,998,175 , GRCh37 chr1: 6,363,701-16,125,588 VPS13D, PRAMEF30P, 240 more genes
    nsv3903672copy number variation1nstd102humanPathogenic GRCh38 chr1: 9,064,492-12,666,744 , NCBI36 chr1: 9,047,138-12,649,342 , GRCh37 chr1: 9,124,551-12,726,755 LOC105376712, CENPS, 101 more genes
    nsv3903444copy number variation1nstd102humanPathogenic GRCh37 chr1: 4,958,499-13,178,528 , NCBI36 chr1: 4,858,359-13,101,115 , GRCh38 chr1: 4,898,439-13,111,056 NPPA-AS1, PARK7, 195 more genes
    nsv3903387copy number variation1nstd102humanPathogenic GRCh37 chr1: 8,343,754-12,530,188 , GRCh38 chr1: 8,283,694-12,470,133 , NCBI36 chr1: 8,266,341-12,452,775 TNFRSF1B, H6PD, 113 more genes
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