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Items: 1 to 20 of 139

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5980451copy number variation1nstd102humanLikely pathogenic GRCh37 chr14: 54,654,001-75,828,024 , GRCh38.p12 chr14: 54,187,283-75,361,321 ACTN1, ACYP1, 400 more genes
    nsv5509089copy number variation1nstd206human GRCh38 chr14: 59,479,988-59,480,058 , GRCh37.p13 chr14: 59,946,706-59,946,776 L3HYPDH
    nsv5301894copy number variation1nstd204human GRCh38.p13 chr14: 59,478,153-59,479,536 , GRCh37.p13 chr14: 59,944,871-59,946,254 L3HYPDH
    nsv5145923mobile element insertion1nstd203human GRCh38 chr14: 59,470,927-59,470,927 , GRCh37.p13 chr14: 59,937,645-59,937,645 L3HYPDH
    nsv5145059mobile element insertion1nstd203human GRCh38 chr14: 59,494,419-59,494,433 , GRCh37.p13 chr14: 59,961,137-59,961,151 L3HYPDH, JKAMP
    nsv5032025inversion1nstd200human GRCh38 chr14: 53,190,097-88,878,877 , GRCh37.p13 chr14: 53,656,815-89,345,221 , IFT43, 578 more genes
    nsv4836424copy number variation1nstd200human GRCh37 chr14: 59,962,192-59,962,621 , GRCh38.p12 chr14: 59,495,474-59,495,903 JKAMP, L3HYPDH
    nsv4621008copy number variation1nstd183human GRCh37 chr14: 59,951,257-59,953,424 , GRCh38.p12 chr14: 59,484,539-59,486,706 L3HYPDH, JKAMP
    nsv4514160mobile element insertion1nstd166human GRCh37.p13 chr14: 59,941,794-59,941,794 , GRCh38.p12 chr14: 59,475,076-59,475,076 L3HYPDH
    nsv4501557mobile element insertion1nstd166human GRCh37.p13 chr14: 59,961,137-59,961,137 , GRCh38.p12 chr14: 59,494,419-59,494,419 L3HYPDH, JKAMP
    nsv4498543mobile element insertion1nstd166human GRCh37.p13 chr14: 59,944,259-59,944,259 , GRCh38.p12 chr14: 59,477,541-59,477,541 L3HYPDH
    nsv4455097copy number variation1nstd102humanUncertain significance GRCh37 chr14: 59,939,135-60,006,849 , GRCh38.p12 chr14: 59,472,417-59,540,131 L3HYPDH, CCDC175, 1 more genes
    nsv3928603insertion1nstd167human GRCh37 chr14: 59,969,473-59,969,473 , GRCh38.p12 chr14: 59,502,755-59,502,755 JKAMP, L3HYPDH
    nsv3924033copy number variation1nstd102humanPathogenic GRCh37 chr14: 58,120,131-64,560,246 , GRCh38 chr14: 57,653,413-64,093,528 , NCBI36 chr14: 57,189,884-63,629,999 DACT1, UBA52P3, 105 more genes
    nsv3922652copy number variation1nstd102humanPathogenic GRCh37 chr14: 57,507,754-67,674,948 , NCBI36 chr14: 56,577,507-66,744,701 , GRCh38 chr14: 57,041,036-67,208,231 PARP1P2, SNAPC1, 160 more genes
    nsv3919106copy number variation1nstd102humanPathogenic GRCh37 chr14: 20,511,673-107,285,437 , GRCh38 chr14: 20,043,514-106,877,229 , NCBI36 chr14: 19,581,513-106,356,482 SRMP2, IGHV3-71, 1929 more genes
    nsv3917422copy number variation1nstd102humanPathogenic GRCh38 chr14: 20,151,149-106,855,263 , NCBI36 chr14: 19,689,148-106,334,523 , GRCh37 chr14: 20,619,308-107,263,478 MIR656, TRAJ59, 1918 more genes
    nsv3915521copy number variation1nstd102humanPathogenic NCBI36 chr14: 57,682,493-60,810,090 , GRCh37 chr14: 58,612,740-61,740,337 , GRCh38 chr14: 58,146,022-61,273,619 DACT1, JKAMP, 61 more genes
    nsv3910126copy number variation1nstd102humanPathogenic NCBI36 chr14: 58,143,026-61,052,791 , GRCh37.p13 chr14: 59,073,273-61,983,038 , GRCh38.p12 chr14: 58,606,555-61,516,320 AKR1B1P5, SIX6, 45 more genes
    nsv3907460copy number variation1nstd102humanPathogenic GRCh37 chr14: 19,280,733-107,287,663 , GRCh38.p12 chr14: 18,504,256-106,879,456 BANF1P1, IGHV1-68, 1996 more genes
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