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Items: 1 to 20 of 135

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7148262copy number variation1nstd102humanPathogenic GRCh38 chr19: 54,105,500-54,126,715 , GRCh37.p13 chr19|NW_004166865.1: 79,867-101,082 TFPT, NDUFA3, 1 more genes
    nsv7148252copy number variation1nstd102humanPathogenic GRCh38 chr19: 54,106,667-54,131,817 , GRCh37.p13 chr19|NW_004166865.1: 81,034-106,184 NDUFA3, PRPF31, 1 more genes
    nsv7069393inversion1nstd229human GRCh38 chr19: 53,026,789-54,633,410 , GRCh37.p13 chr19: 53,530,042-54,528,887 MIR512-2, LILRB3, 145 more genes
    nsv7068554inversion1nstd229human GRCh38 chr19: 54,105,932-54,106,828 , GRCh37.p13 chr19|NW_004166865.1: 80,299-81,195 NDUFA3, TFPT
    nsv7065131inversion1nstd229human GRCh38 chr19: 52,267,822-54,176,069 , GRCh37.p13 chr19: 52,771,075-54,528,887 ERVV-1, NDUFA3, 149 more genes
    nsv7064925inversion1nstd229human GRCh38 chr19: 49,540,460-54,108,860 , GRCh37.p13 chr19: 50,043,717-54,528,887 DPRX, EMC10, 323 more genes
    nsv7060687inversion1nstd229human GRCh38 chr19: 53,785,748-54,383,705 , GRCh37.p13 chr19|NW_004166865.1: 1-358,072 MBOAT7, VSTM1, 36 more genes
    nsv6624795copy number variation1nstd224human GRCh37 chr19: 54,584,651-54,611,131 , GRCh38.p12 chr19: 54,081,382-54,107,824 , GRCh38.p12 chr19|NT_187693.1: 55,764-82,244 , GRCh38.p12 chr19|NW_003571061.2: 55,764-82,244 , GRCh38.p12 chr19|NW_003571057.2: 55,764-82,244 , GRCh38.p12 chr19|NW_003571058.2: 55,764-82,244 , GRCh38.p12 chr19|NW_003571059.2: 55,764-82,244 , GRCh38.p12 chr19|NW_003571060.1: 55,764-82,244 , GRCh38.p12 chr19|NW_003571056.2: 55,764-82,244 , GRCh38.p12 chr19|NW_003571055.2: 55,764-82,244 , GRCh38.p12 chr19|NW_003571054.1: 55,764-82,244 TFPT, OSCAR, 2 more genes
    nsv6599207inversion1nstd223human GRCh38 chr19: 53,839,120-54,950,754 , GRCh37.p13 chr19|NW_004166865.1: 1-925,122 FCAR, KIR2DL1, 64 more genes
    nsv6597416inversion1nstd223human GRCh38 chr19: 53,217,793-54,175,150 , GRCh37.p13 chr19: 53,721,046-54,528,887 CACNG7, MIR371B, 110 more genes
    nsv6530259copy number variation1nstd223human GRCh38 chr19: 54,076,630-54,265,819 , GRCh37.p13 chr19|NW_004166865.1: 50,997-240,186 LOC107985279, RNU6-1307P, 16 more genes
    nsv6528953copy number variation1nstd223human GRCh38 chr19: 54,104,895-54,105,391 , GRCh37.p13 chr19|NW_004166865.1: 79,262-79,758 NDUFA3, TFPT
    nsv6310493copy number variation1nstd102humanUncertain significance GRCh37 chr19: 54,297,303-55,678,016 , GRCh38.p12 chr19|NT_187693.1: 134,805-894,467 , GRCh38.p12 chr19: 53,794,049-55,166,648 PRPF31, TSEN34, 80 more genes
    nsv6224517copy number variation1nstd214human GRCh38 chr19: 54,101,312-54,101,411 , GRCh37.p13 chr19|NW_004166865.1: 75,679-75,778 OSCAR, NDUFA3
    nsv6058286copy number variation1nstd212human GRCh38 chr19: 54,101,741-54,101,799 , GRCh37.p13 chr19|NW_004166865.1: 76,108-76,166 OSCAR, NDUFA3
    nsv6057597copy number variation1nstd212human GRCh38 chr19: 54,103,275-54,103,348 , GRCh37.p13 chr19|NW_004166865.1: 77,642-77,715 NDUFA3
    nsv6049116copy number variation1nstd212human GRCh38 chr19: 54,101,318-54,101,417 , GRCh37.p13 chr19|NW_004166865.1: 75,685-75,784 NDUFA3, OSCAR
    nsv5946136copy number variation1nstd209human GRCh38 chr19: 54,101,312-54,101,411 , GRCh37.p13 chr19|NW_004166865.1: 75,679-75,778 NDUFA3, OSCAR
    nsv5934485copy number variation1nstd209human GRCh38 chr19: 54,103,782-54,103,936 , GRCh37.p13 chr19|NW_004166865.1: 78,149-78,303 NDUFA3
    nsv5602015copy number variation1nstd207human GRCh38 chr19: 54,101,312-54,101,411 , GRCh37.p13 chr19|NW_004166865.1: 75,679-75,778 NDUFA3, OSCAR
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