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Items: 1 to 20 of 401

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7140130insertion1nstd232human GRCh37.p13 chr2: 38,976,491-38,976,491 , GRCh38.p12 chr2: 38,749,349-38,749,349 SRSF7
    nsv7096653copy number variation1nstd102humanUncertain significance GRCh37 chr2: 38,121,051-47,710,088 , GRCh38.p12 chr2: 37,893,908-47,482,949 PLEKHH2, RNU6-566P, 151 more genes
    nsv7096652copy number variation1nstd102humanPathogenic GRCh37 chr2: 37,334,416-39,347,563 , GRCh38.p12 chr2: 37,107,273-39,120,422 RPL31P16, GALM, 52 more genes
    nsv7051757inversion1nstd229human GRCh38 chr2: 38,381,876-38,912,776 , GRCh37.p13 chr2: 38,609,018-39,139,917 HNRNPLL, LINC01883, 14 more genes
    nsv6675554copy number variation1nstd229human GRCh38 chr2: 38,728,121-38,745,414 , GRCh37.p13 chr2: 38,955,263-38,972,556 GALM, SRSF7
    nsv6668043copy number variation1nstd229human GRCh38 chr2: 38,713,601-38,856,800 , GRCh37.p13 chr2: 38,940,743-39,083,942 LOC105374470, NPLP1, 6 more genes
    nsv6665845copy number variation1nstd229human GRCh38 chr2: 38,725,601-38,745,300 , GRCh37.p13 chr2: 38,952,743-38,972,442 SRSF7, GALM
    nsv6661848copy number variation1nstd229human GRCh38 chr2: 38,743,701-38,745,400 , GRCh37.p13 chr2: 38,970,843-38,972,542 SRSF7
    nsv6635565copy number variation1nstd227human GRCh38.p12 chr2: 38,724,524-38,742,988 , GRCh37 chr2: 38,951,666-38,970,130 SRSF7, GALM
    nsv6635166copy number variation1nstd227human GRCh38.p12 chr2: 38,729,805-38,742,988 , GRCh37 chr2: 38,956,947-38,970,130 SRSF7, GALM
    nsv6634330copy number variation1nstd102humanPathogenic GRCh37 chr2: 11,504,318-111,365,996 , GRCh38.p12 chr2: 11,364,192-110,608,419 CYP1B1-AS1, LOC107985771, 1649 more genes
    nsv6628116copy number variation277nstd224human GRCh37 chr2: 38,956,836-38,972,328 , GRCh38.p12 chr2: 38,729,694-38,745,186 SRSF7, GALM
    nsv6627920copy number variation1nstd224human GRCh37 chr2: 38,917,004-38,972,328 , GRCh38.p12 chr2: 38,689,862-38,745,186 GALM, SRSF7
    nsv6548072inversion1nstd223human GRCh38 chr2: 32,866,995-42,468,982 , GRCh37.p13 chr2: 33,092,062-42,696,122 PKDCC, SRSF7, 127 more genes
    nsv6542757inversion1nstd223human GRCh38 chr2: 32,866,974-42,451,061 , GRCh37.p13 chr2: 33,092,041-42,678,201 RASGRP3, TTC39DP, 125 more genes
    nsv6540167inversion1nstd223human GRCh38 chr2: 32,866,952-40,818,398 , GRCh37.p13 chr2: 33,092,019-41,045,538 CEBPZOS, RNU6-1116P, 110 more genes
    nsv6539485inversion1nstd223human GRCh38 chr2: 32,866,964-42,766,565 , GRCh37.p13 chr2: 33,092,031-42,993,705 RN7SL602P, RNU6-851P, 132 more genes
    nsv6353822copy number variation1nstd223human GRCh38 chr2: 38,726,101-38,743,600 , GRCh37.p13 chr2: 38,953,243-38,970,742 GALM, SRSF7
    nsv6348928copy number variation1nstd223human GRCh38 chr2: 38,732,801-38,749,100 , GRCh37.p13 chr2: 38,959,943-38,976,242 SRSF7, GALM
    nsv6345450copy number variation1nstd223human GRCh38 chr2: 38,743,001-38,745,300 , GRCh37.p13 chr2: 38,970,143-38,972,442 SRSF7
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