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Items: 1 to 20 of 138

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7147415insertion1nstd232human GRCh37.p13 chr1: 38,047,937-38,047,937 , GRCh38.p12 chr1: 37,582,336-37,582,336 GNL2
    nsv7145737insertion1nstd232human GRCh37.p13 chr1: 38,032,604-38,032,604 , GRCh38.p12 chr1: 37,567,003-37,567,003 DNALI1, GNL2
    nsv7142754insertion1nstd232human GRCh37.p13 chr1: 38,032,608-38,032,608 , GRCh38.p12 chr1: 37,567,007-37,567,007 DNALI1, GNL2
    nsv7140570insertion1nstd232human GRCh37.p13 chr1: 38,042,166-38,042,166 , GRCh38.p12 chr1: 37,576,565-37,576,565 GNL2
    nsv7099193copy number variation1nstd231human GRCh38.p12 chr1: 32,456,017-38,905,781 , GRCh37 chr1: 32,921,618-39,371,453 AK2, COL8A2, 151 more genes
    nsv7095992copy number variation1nstd102humanUncertain significance GRCh37 chr1: 38,003,349-38,273,852 , GRCh38.p12 chr1: 37,537,748-37,808,180 LOC105378650, ACTN4P2, 15 more genes
    nsv7046918inversion1nstd229human GRCh38 chr1: 34,689,928-38,980,899 , GRCh37.p13 chr1: 35,155,529-39,446,571 LOC105378647, NCDN, 112 more genes
    nsv7042754inversion1nstd229human GRCh38 chr1: 37,589,600-37,592,248 , GRCh37.p13 chr1: 38,055,201-38,057,849 GNL2
    nsv7040332inversion1nstd229human GRCh38 chr1: 34,936,903-38,057,517 , GRCh37.p13 chr1: 35,402,504-38,523,189 MAP7D1, RPL12P45, 83 more genes
    nsv6649566copy number variation1nstd229human GRCh38 chr1: 37,576,698-37,591,549 , GRCh37.p13 chr1: 38,042,299-38,057,150 GNL2
    nsv6322191copy number variation1nstd223human GRCh38 chr1: 37,587,501-37,589,200 , GRCh37.p13 chr1: 38,053,102-38,054,801 GNL2
    nsv6313765copy number variation1nstd102humanUncertain significance GRCh37 chr1: 36,041,366-39,112,237 , GRCh38.p12 chr1: 35,575,765-38,646,565 RNU6-510P, AGO3, 78 more genes
    nsv6313688copy number variation1nstd102humanPathogenic GRCh37 chr1: 33,285,582-47,891,811 , GRCh38.p12 chr1: 32,819,981-47,426,139 LOC107984940, PPIAP36, 407 more genes
    nsv6133994copy number variation1nstd213human GRCh37 chr1: 37,480,000-43,930,001 , GRCh38.p12 chr1: 37,014,399-43,464,330 BMP8B, CDC20, 183 more genes
    nsv5431971copy number variation1nstd206human GRCh38 chr1: 37,590,667-37,591,717 , GRCh37.p13 chr1: 38,056,268-38,057,318 GNL2
    nsv5339232translocation1nstd200human GRCh37 chr1: 38,052,488-38,052,488 , GRCh37 chr1: 38,054,670-38,054,670 , GRCh38.p12 chr1: 37,586,887-37,586,887 , GRCh38.p12 chr1: 37,589,069-37,589,069 GNL2
    nsv4896009copy number variation1nstd200human GRCh38 chr1: 37,589,551-37,591,016 , GRCh37.p13 chr1: 38,055,152-38,056,617 GNL2
    nsv4767860inversion1nstd199human GRCh37 chr1: 17,051,740-234,912,187 , GRCh38.p12 chr1: 16,725,245-234,776,440 , ABCA4, 4269 more genes
    nsv4761183inversion1nstd199human GRCh37 chr1: 16,884,570-145,374,569 , GRCh38.p12 chr1: 16,558,075-149,528,945 , ABCA4, 2341 more genes
    nsv4751400inversion1nstd199human GRCh37 chr1: 17,125,657-234,919,132 , GRCh38.p12 chr1: 16,799,162-234,783,385 , ABCA4, 4264 more genes
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