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Items: 1 to 20 of 259820

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv6137814delins1nstd102humanUncertain significance GRCh37 chr3: 38,768,166-38,768,229 , GRCh38 chr3: 38,726,675-38,726,738 SCN10A
    nsv6137811delins1nstd102humanUncertain significance GRCh37 chrX: 153,135,874-153,135,931 , GRCh38 chrX: 153,870,419-153,870,476 L1CAM
    nsv6137810insertion1nstd102humanBenign GRCh37 chr18: 28,666,527-28,666,527 , GRCh38.p12 chr18: 31,086,564-31,086,564 DSC2
    nsv6137808copy number variation1nstd102humanLikely pathogenic GRCh38.p12 chr19: 49,568,107-49,662,685 , GRCh37 chr19: 50,071,364-50,165,942 IRF3, PRRG2, 4 more genes
    nsv6137806copy number variation1nstd102humanUncertain significance GRCh37 chr3: 196,539,700-196,612,739 , GRCh38.p12 chr3: 196,812,829-196,885,868 SENP5, PAK2
    nsv6137796copy number variation1nstd102humanLikely benign GRCh37 chr9: 140,039,912-140,039,971 , GRCh38 chr9: 137,145,460-137,145,519 GRIN1
    nsv6137788copy number variation1nstd102humanPathogenic GRCh37 chr2: 24,601,818-43,466,284 , GRCh38.p12 chr2: 24,378,949-43,239,145 RAB10, MYADML, 326 more genes
    nsv6137758copy number variation1nstd102humanUncertain significance GRCh37 chr7: 151,993,317-152,093,215 , GRCh38.p12 chr7: 152,296,232-152,396,130 KMT2C, SEPTIN7P6
    nsv6137751copy number variation1nstd102humanBenign GRCh37 chr21: 47,543,092-47,543,170 , GRCh38 chr21: 46,123,178-46,123,256 COL6A2
    nsv6137736copy number variation1nstd102humanPathogenic GRCh37 chrX: 153,263,517-155,260,560 , GRCh38.p12 chrX: 153,998,066-156,030,895 HMGN1P37, MIR664B, 83 more genes
    nsv6137731copy number variation1nstd102humanBenign GRCh37 chrX: 1,412,907-1,412,990 , GRCh38 chrY: 1,294,014-1,294,097 , GRCh37 chrY: 1,362,907-1,362,990 , GRCh38 chrX: 1,294,014-1,294,097 CSF2RA, MIR3690
    nsv6137727copy number variation1nstd102humanUncertain significance GRCh38 chr3: 12,589,035-12,766,981 , GRCh37.p13 chr3: 12,630,534-12,808,480 RAF1, TMEM40, 1 more genes
    nsv6137724copy number variation1nstd102humanPathogenic GRCh37 chr1: 16,785,250-23,491,592 , GRCh38.p12 chr1: 16,458,755-23,165,099 RPS15AP6, PLA2G2D, 177 more genes
    nsv6137720copy number variation1nstd102humanBenign GRCh37 chr16: 1,254,947-1,255,030 , GRCh38 chr16: 1,204,947-1,205,030 CACNA1H
    nsv6137713insertion1nstd102humanUncertain significance GRCh37 chr18: 48,581,368-48,581,368 , GRCh38 chr18: 51,054,998-51,054,998 SMAD4
    nsv6137708copy number variation1nstd102humanLikely pathogenic GRCh37 chr20: 42,981,187-42,987,120 , GRCh38.p12 chr20: 44,352,547-44,358,480 HNF4A, R3HDML-AS1
    nsv6137707copy number variation1nstd102humanPathogenic GRCh37 chr16: 29,565,626-30,221,925 , GRCh38.p12 chr16: 29,554,305-30,210,604 LOC112694756, INO80E, 45 more genes
    nsv6137705copy number variation1nstd102humanPathogenic GRCh37 chr9: 36,419,493-40,774,118 , GRCh38.p12 chr9: 36,419,496-39,445,729 , GRCh38.p12 chr9: 61,281,967-67,217,006 LOC100132249, LOC107987073, 218 more genes
    nsv6137704copy number variation1nstd102humanPathogenic GRCh37 chr9: 36,426,622-38,787,479 , GRCh38.p12 chr9: 36,426,625-38,787,482 TMX2P1, SHB, 55 more genes
    nsv6137702copy number variation1nstd102humanPathogenic GRCh37 chr9: 35,059,633-37,660,586 , GRCh38.p12 chr9: 35,059,636-37,660,589 LOC102724322, ZBTB5, 84 more genes
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