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Items: 1 to 20 of 604

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7139574copy number variation1nstd232human GRCh37.p13 chr2: 227,910,533-227,910,588 , GRCh38.p12 chr2: 227,045,817-227,045,872 COL4A4
    nsv7098716copy number variation1nstd102humanPathogenic GRCh37 chr2: 228,004,857-228,029,549 , GRCh38.p12 chr2: 227,140,141-227,164,833 COL4A3, COL4A4
    nsv7096614copy number variation1nstd102humanPathogenic GRCh37 chr2: 227,963,400-227,966,635 , GRCh38.p12 chr2: 227,098,684-227,101,919 COL4A4
    nsv7096613copy number variation1nstd102humanPathogenic GRCh37 chr2: 227,946,821-227,946,913 , GRCh38.p12 chr2: 227,082,105-227,082,197 COL4A4
    nsv7096612copy number variation1nstd102humanPathogenic GRCh37 chr2: 227,892,598-227,974,022 , GRCh38.p12 chr2: 227,027,882-227,109,306 COL4A4
    nsv7096403copy number variation1nstd102humanPathogenic GRCh37 chr2: 227,872,031-227,873,030 , GRCh38.p12 chr2: 227,007,315-227,008,314 COL4A4
    nsv7096245copy number variation1nstd102humanUncertain significance GRCh37 chr2: 227,946,811-227,954,693 , GRCh38.p12 chr2: 227,082,095-227,089,977 COL4A4
    nsv7096244copy number variation1nstd102humanUncertain significance GRCh37 chr2: 227,659,726-228,567,034 , GRCh38.p12 chr2: 226,795,010-227,702,318 SLC19A3, IRS1, 12 more genes
    nsv7096140copy number variation1nstd102humanPathogenic GRCh37 chr2: 227,914,764-227,917,148 , GRCh38.p12 chr2: 227,050,048-227,052,432 COL4A4
    nsv7056783inversion1nstd229human GRCh38 chr2: 227,147,480-227,204,930 , GRCh37.p13 chr2: 228,012,196-228,069,646 COL4A4, COL4A3
    nsv7055926inversion1nstd229human GRCh38 chr2: 223,723,053-227,096,551 , GRCh37.p13 chr2: 224,587,770-227,961,267 CUL3, MRPL44, 23 more genes
    nsv7054985inversion1nstd229human GRCh38 chr2: 226,930,591-227,053,690 , GRCh37.p13 chr2: 227,795,307-227,918,406 COL4A4, RHBDD1
    nsv7053815inversion1nstd229human GRCh38 chr2: 226,965,869-226,970,957 , GRCh37.p13 chr2: 227,830,585-227,835,673 RHBDD1, COL4A4
    nsv7049229inversion1nstd229human GRCh38 chr2: 227,044,478-227,044,593 , GRCh37.p13 chr2: 227,909,194-227,909,309 COL4A4
    nsv7048181inversion1nstd229human GRCh38 chr2: 226,980,915-227,037,995 , GRCh37.p13 chr2: 227,845,631-227,902,711 RHBDD1, COL4A4
    nsv7047209inversion1nstd229human GRCh38 chr2: 222,803,564-227,992,948 , GRCh37.p13 chr2: 223,668,283-228,857,664 MFF, LOC100289117, 55 more genes
    nsv7045954inversion1nstd229human GRCh38 chr2: 227,112,280-227,117,605 , GRCh37.p13 chr2: 227,976,996-227,982,321 COL4A4
    nsv7045781inversion1nstd229human GRCh38 chr2: 226,619,501-227,899,799 , GRCh37.p13 chr2: 227,484,217-228,764,515 SLC19A3, IRS1, 19 more genes
    nsv7043640inversion1nstd229human GRCh38 chr2: 222,841,128-228,011,478 , GRCh37.p13 chr2: 223,705,846-228,876,194 MFF-DT, LOC105373905, 55 more genes
    nsv7038856inversion1nstd229human GRCh38 chr2: 227,079,588-227,151,662 , GRCh37.p13 chr2: 227,944,304-228,016,378 COL4A4
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