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Items: 1 to 20 of 151

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5980234inversion1nstd209human GRCh38 chr2: 130,052,690-131,284,721 , GRCh37.p13 chr2: 130,810,263-132,042,294 , PTPN18, 55 more genes
    nsv5968094inversion1nstd209human GRCh38 chr2: 130,018,896-131,305,572 , GRCh37.p13 chr2: 130,776,469-132,063,145 , PTPN18, 61 more genes
    nsv5665937inversion1nstd207human GRCh38 chr2: 130,138,213-131,531,319 , GRCh37.p13 chr2: 130,895,786-132,288,892 , GNAQP1, 84 more genes
    nsv5558142mobile element insertion1nstd206human GRCh38 chr2: 102,295,972-141,288,199 , GRCh37.p13 chr2: 102,912,432-142,045,768 , LOC105373587, 623 more genes
    nsv5554214mobile element insertion1nstd206human GRCh38 chr2: 43,826,578-177,947,868 , GRCh37.p13 chr2: 44,053,717-178,812,595 , POLR1B, 2149 more genes
    nsv5444136copy number variation1nstd206human GRCh38 chr2: 130,579,000-130,597,000 , GRCh37.p13 chr2: 131,336,573-131,354,573 CFC1, PRSS40A
    nsv5430704copy number variation1nstd206human GRCh38 chr2: 130,599,618-130,605,100 , GRCh37.p13 chr2: 131,357,191-131,362,673 CFC1
    nsv5327037inversion1nstd204human GRCh37.p13 chr2: 130,942,902-132,247,079 , GRCh38.p13 chr2: 130,185,329-131,489,506 , PTPN18, 79 more genes
    nsv5219881copy number variation1nstd204human GRCh38.p13 chr2: 130,580,201-130,597,300 , GRCh37.p13 chr2: 131,337,774-131,354,873 CFC1, PRSS40A
    nsv5211785copy number variation1nstd204human GRCh38.p13 chr2: 130,580,201-130,600,400 , GRCh37.p13 chr2: 131,337,774-131,357,973 CFC1, PRSS40A
    nsv5210056copy number variation1nstd204human GRCh38.p13 chr2: 130,588,701-130,595,400 , GRCh37.p13 chr2: 131,346,274-131,352,973 CFC1
    nsv5037689inversion1nstd200human GRCh38 chr2: 130,226,386-131,459,405 , GRCh37.p13 chr2: 130,983,959-132,216,978 , MTND6P10, 73 more genes
    nsv5035923inversion1nstd200human GRCh38 chr2: 83,726,586-172,391,178 , GRCh37.p13 chr2: 83,953,710-173,255,906 , MTND2P21, 1427 more genes
    nsv5033955inversion1nstd200human GRCh38 chr2: 103,800,446-187,202,765 , GRCh37.p13 chr2: 104,416,904-188,067,492 , EDDM3CP, 1184 more genes
    nsv4889214inversion1nstd200human GRCh37 chr2: 130,983,959-132,216,978 , GRCh38.p12 chr2: 130,226,386-131,459,405 , KLF2P2, 73 more genes
    nsv4879764inversion1nstd200human GRCh37 chr2: 104,416,904-188,067,492 , GRCh38.p12 chr2: 103,800,446-187,202,765 , ACMSD, 1184 more genes
    nsv4684238copy number variation1nstd102humanLikely pathogenic GRCh37 chr2: 122,952,356-133,826,358 , GRCh38.p12 chr2: 122,194,780-133,068,785 BIN1, ERCC3, 211 more genes
    nsv4656385copy number variation1nstd186human GRCh37 chr2: 131,332,557-131,390,617 , GRCh38.p12 chr2: 130,574,984-130,633,044 CFC1, PRSS40A, 2 more genes
    nsv4634739copy number variation3nstd186human GRCh37 chr2: 131,336,800-131,363,100 , GRCh38.p12 chr2: 130,579,227-130,605,527 CFC1, PRSS40A
    nsv4453293copy number variation1nstd102humanUncertain significance GRCh37 chr2: 130,916,858-134,213,436 , GRCh38.p12 chr2: 130,159,285-133,455,865 MIR9986, LOC100859919, 119 more genes
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