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Items: 1 to 20 of 192

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7098827copy number variation1nstd102humanPathogenic GRCh37 chr1: 4,481,271-20,530,242 , GRCh38.p12 chr1: 4,421,211-20,203,749 LOC107985467, LINC01777, 386 more genes
    nsv7095712copy number variation1nstd102humanUncertain significance GRCh37 chr1: 17,316,166-17,338,233 , GRCh38.p12 chr1: 16,989,671-17,011,738 ATP13A2
    nsv7095562copy number variation1nstd102humanUncertain significance GRCh37 chr1: 17,312,716-17,338,233 , GRCh38.p12 chr1: 16,986,221-17,011,738 ATP13A2
    nsv7049927inversion1nstd229human GRCh38 chr1: 12,447,483-21,286,051 , GRCh37.p13 chr1: 12,507,539-21,612,544 SLC25A34, RNA5SP41, 238 more genes
    nsv6644537copy number variation1nstd229human GRCh38 chr1: 16,997,179-17,021,733 , GRCh37.p13 chr1: 17,323,674-17,348,228 ATP13A2, SDHB
    nsv6644535copy number variation1nstd229human GRCh38 chr1: 16,985,316-16,985,529 , GRCh37.p13 chr1: 17,311,811-17,312,024 ATP13A2
    nsv6644492copy number variation1nstd229human GRCh38 chr1: 16,999,314-16,999,861 , GRCh37.p13 chr1: 17,325,809-17,326,356 ATP13A2
    nsv6636785copy number variation1nstd102humanPathogenic GRCh37 chr1: 6,758,933-19,287,770 , GRCh38.p12 chr1: 6,698,873-18,961,276 GPR157, MST1L, 313 more genes
    nsv6625920copy number variation1nstd224human GRCh37 chr1: 17,318,065-17,342,659 , GRCh38.p12 chr1: 16,991,570-17,016,164 ATP13A2
    nsv6625681copy number variation1nstd224human GRCh37 chr1: 17,316,686-17,380,483 , GRCh38.p12 chr1: 16,990,191-17,053,988 ATP13A2, SDHB
    nsv6334369copy number variation1nstd223human GRCh38 chr1: 16,985,601-16,987,200 , GRCh37.p13 chr1: 17,312,096-17,313,695 ATP13A2
    nsv6330314copy number variation1nstd223human GRCh38 chr1: 16,985,316-16,985,529 , GRCh37.p13 chr1: 17,311,811-17,312,024 ATP13A2
    nsv6325982copy number variation1nstd223human GRCh38 chr1: 16,989,078-17,061,247 , GRCh37.p13 chr1: 17,315,573-17,387,742 ATP13A2, SDHB
    nsv6310919copy number variation1nstd102humanPathogenic GRCh37 chr1: 17,330,807-17,332,293 , GRCh38.p12 chr1: 17,004,312-17,005,798 ATP13A2
    nsv6310739copy number variation1nstd102humanPathogenic GRCh37 chr1: 17,316,166-17,332,293 , GRCh38.p12 chr1: 16,989,671-17,005,798 ATP13A2
    nsv6290672copy number variation1nstd102humanPathogenic GRCh37 chr1: 849,466-17,525,065 , GRCh38.p12 chr1: 914,086-17,198,570 RPL9P11, FAM131C2P, 466 more genes
    nsv6290472copy number variation1nstd102humanPathogenic GRCh37 chr1: 16,773,001-20,221,073 , GRCh38.p12 chr1: 16,446,506-19,894,580 MIR1290, RNU6-1099P, 92 more genes
    nsv6290458copy number variation1nstd102humanPathogenic GRCh37 chr1: 17,284,531-17,770,100 , GRCh38.p12 chr1|NW_011332688.1: 1-288,827 , GRCh38.p12 chr1: 16,958,036-17,443,604 PADI2, RCC2, 12 more genes
    nsv6137724copy number variation1nstd102humanPathogenic GRCh37 chr1: 16,785,250-23,491,592 , GRCh38.p12 chr1: 16,458,755-23,165,099 PADI1, RPS15AP6, 176 more genes
    nsv6133948copy number variation1nstd213human GRCh37 chr1: 17,280,000-26,950,001 , GRCh38.p12 chr1: 16,953,505-26,623,510 ALPL, C1QA, 250 more genes
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