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Items: 1 to 20 of 139

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5906041copy number variation1nstd209human GRCh38 chr2: 168,905,800-168,907,132 , GRCh37.p13 chr2: 169,762,310-169,763,642 G6PC2
    nsv5560580sequence alteration1nstd206human GRCh38 chr2: 151,447,581-231,256,535 , GRCh37.p13 chr2: 152,304,095-232,121,248 , ATIC, 1163 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
    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
    nsv4928883copy number variation1nstd200human GRCh38 chr2: 168,804,535-169,051,616 , GRCh37.p13 chr2: 169,661,045-169,908,126 G6PC2, NOSTRIN, 2 more genes
    nsv4879764inversion1nstd200human GRCh37 chr2: 104,416,904-188,067,492 , GRCh38.p12 chr2: 103,800,446-187,202,765 , ACMSD, 1184 more genes
    nsv4804415copy number variation1nstd200human GRCh37 chr2: 169,661,045-169,908,126 , GRCh38.p12 chr2: 168,804,535-169,051,616 , GRCh38.p12 chr2|NW_003315909.1: 1-123,821 SPC25, NOSTRIN, 2 more genes
    nsv4768307copy number variation1nstd102humanPathogenic GRCh37 chr2: 163,078,055-182,119,617 , GRCh38.p12 chr2: 162,221,545-181,254,890 RBM45, LOC102724194, 258 more genes
    nsv4674383copy number variation1nstd102humanPathogenic GRCh37 chr2: 163,233,162-211,927,188 , GRCh38.p12 chr2: 162,376,652-211,062,464 SNORA41, LOC101929633, 663 more genes
    nsv4584324copy number variation1nstd183human GRCh37 chr2: 169,664,227-169,898,102 , GRCh38.p12 chr2: 168,807,717-169,041,592 , GRCh38.p12 chr2|NW_003315909.1: 1-123,821 ABCB11, G6PC2, 2 more genes
    nsv4451512copy number variation1nstd102humanPathogenic GRCh37 chr2: 167,329,586-192,756,373 , GRCh38.p12 chr2: 166,473,076-191,891,647 LINC01117, LOC107985958, 339 more genes
    nsv4092125copy number variation1nstd166human GRCh37.p13 chr2: 169,647,087-169,813,670 , GRCh38.p12 chr2: 168,790,577-168,957,160 , GRCh38.p12 chr2|NW_003315909.1: 1-123,821 SPC25, ABCB11, 2 more genes
    nsv4075094copy number variation1nstd166human GRCh37.p13 chr2: 169,765,477-169,765,672 , GRCh38.p12 chr2: 168,908,967-168,909,162 , GRCh38.p12 chr2|NW_003315909.1: 95,594-95,789 G6PC2
    nsv3971399insertion1nstd168human GRCh38 chr2: 168,845,857-168,899,648 , GRCh37.p13 chr2: 169,702,367-169,756,158 SPC25, G6PC2, 1 more genes
    nsv3924199copy number variation1nstd102humanUncertain significance NCBI36 chr2: 130,861,065-242,751,149 , GRCh37.p13 chr2: 131,144,595-243,102,476 , GRCh38.p12 chr2: 130,387,022-242,160,331 METAP1D, UBE2E3-DT, 1635 more genes
    nsv3923963copy number variation1nstd102humanUncertain significance NCBI36 chr2: 110,190,938-242,751,149 , GRCh37.p13 chr2: 110,833,649-243,102,476 , GRCh38.p12 chr2: 110,076,072-242,160,331 NMTRQ-TTG9-1, MIR6810, 1944 more genes
    nsv3920656copy number variation1nstd102humanPathogenic NCBI36 chr2: 164,217,738-169,989,662 , GRCh37.p13 chr2: 164,509,492-170,281,416 , GRCh38.p12 chr2: 163,652,982-169,424,906 RNU6-766P, SCN9A, 48 more genes
    nsv3914220copy number variation1nstd102humanPathogenic NCBI36 chr2: 166,992,294-175,094,656 , GRCh37.p13 chr2: 167,284,048-175,386,410 , GRCh38.p12 chr2: 166,427,538-174,521,682 GPR155-DT, DAP3P2, 111 more genes
    nsv3910630copy number variation1nstd102humanPathogenic NCBI36 chr2: 50,739,936-242,751,149 , GRCh37.p13 chr2: 50,886,432-243,102,476 , GRCh38.p12 chr2: 50,659,294-242,160,331 DAZAP2P1, RPL36AP16, 2991 more genes
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