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Items: 1 to 20 of 230

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7148257copy number variation1nstd102humanPathogenic GRCh38 chr1: 242,164,274-245,299,473 , GRCh37.p13 chr1: 242,327,576-245,462,775 RN7SKP12, ZBTB18, 51 more genes
    nsv7148184copy number variation1nstd102humanPathogenic GRCh38 chr1: 243,221,458-248,919,110 , GRCh37.p13 chr1: 243,384,760-249,213,309 LOC105373271, LOC107985725, 153 more genes
    nsv7148163copy number variation1nstd102humanPathogenic GRCh38 chr1: 244,051,186-244,055,631 , GRCh37.p13 chr1: 244,214,488-244,218,933 ZBTB18
    nsv7148158copy number variation1nstd102humanPathogenic GRCh38 chr1: 235,215,476-247,005,888 , GRCh37.p13 chr1: 235,378,791-247,169,190 RNU6-747P, LINC01139, 172 more genes
    nsv7099272copy number variation1nstd231human GRCh38.p12 chr1: 243,197,153-248,437,482 , GRCh37 chr1: 243,360,455-248,600,783 ADSS2, HNRNPU, 124 more genes
    nsv7095520copy number variation1nstd102humanUncertain significance GRCh37 chr1: 241,661,128-244,218,672 , GRCh38.p12 chr1: 241,497,828-244,055,370 LOC105373231, LOC105373234, 39 more genes
    nsv7058013inversion1nstd229human GRCh38 chr1: 243,978,689-245,824,041 , GRCh37.p13 chr1: 244,141,991-245,987,343 LOC107985372, COX20, 30 more genes
    nsv7043741inversion1nstd229human GRCh38 chr1: 241,706,058-244,559,726 , GRCh37.p13 chr1: 241,869,360-244,723,028 LOC105373231, LINC02774, 44 more genes
    nsv7042644inversion1nstd229human GRCh38 chr1: 242,956,479-245,125,990 , GRCh37.p13 chr1: 243,119,781-245,289,292 LINC02774, TGIF2P1, 36 more genes
    nsv6637045copy number variation1nstd102humanPathogenic GRCh37 chr1: 243,085,543-247,137,125 , GRCh38.p12 chr1: 242,922,241-246,973,823 LOC105373258, RPL35AP6, 59 more genes
    nsv6636794copy number variation1nstd102humanPathogenic GRCh37 chr1: 223,972,939-249,224,684 , GRCh38.p12 chr1: 223,785,237-248,930,485 SEPTIN7P13, WNT3A, 546 more genes
    nsv6636648copy number variation1nstd102humanPathogenic GRCh37 chr1: 239,910,960-249,224,684 , GRCh38.p12 chr1: 239,747,660-248,930,485 RFKP1, OR2T29, 206 more genes
    nsv6636282copy number variation1nstd102humanPathogenic GRCh37 chr1: 243,258,050-249,224,684 , GRCh38.p12 chr1: 243,094,748-248,930,485 AHCYP8, OR2M2, 154 more genes
    nsv6636264copy number variation1nstd102humanUncertain significance GRCh37 chr1: 242,619,665-244,705,582 , GRCh38.p12 chr1: 242,456,363-244,542,280 LOC105373260, RSL24D1P4, 28 more genes
    nsv6636061copy number variation1nstd102humanLikely pathogenic GRCh37 chr1: 242,045,197-249,212,668 , GRCh38.p12 chr1: 241,881,895-248,918,469 ADSS2, HNRNPU, 178 more genes
    nsv6634372copy number variation1nstd102humanPathogenic GRCh37 chr1: 197,867,914-249,224,684 , GRCh38.p12 chr1: 197,898,784-248,930,485 LOC105373279, YBX1P9, 1036 more genes
    nsv6634337copy number variation1nstd102humanPathogenic GRCh37 chr1: 233,012,994-249,206,918 , GRCh38.p12 chr1: 232,877,248-248,912,719 OR2M4, KIF28P, 316 more genes
    nsv6554806inversion1nstd223human GRCh38 chr1: 243,642,456-245,264,723 , GRCh37.p13 chr1: 243,805,758-245,428,025 LOC107985372, KIF26B, 28 more genes
    nsv6315426copy number variation1nstd102humanPathogenic GRCh37 chr1: 242,816,510-244,797,117 , GRCh38.p12 chr1: 242,653,208-244,633,815 ZBTB18, CYCSP5, 26 more genes
    nsv6310957copy number variation2nstd102humanUncertain significance GRCh37 chr1: 243,303,219-245,027,609 , GRCh38.p12 chr1: 243,139,917-244,864,307 SPMIP3, TGIF2P1, 23 more genes
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