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Items: 1 to 20 of 117

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv6137672copy number variation1nstd102humannot provided GRCh38 chr2: 124,348,648-129,410,245 , GRCh37.p13 chr2: 125,106,225-130,167,818 LOC105373603, MYO7B, 59 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
    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
    nsv4879764inversion1nstd200human GRCh37 chr2: 104,416,904-188,067,492 , GRCh38.p12 chr2: 103,800,446-187,202,765 , ACMSD, 1184 more genes
    nsv4781780copy number variation1nstd200human GRCh37 chr2: 128,185,124-128,221,509 , GRCh38.p12 chr2: 127,427,548-127,463,933 LOC105373608, PROC
    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
    nsv4086581copy number variation1nstd166human GRCh37.p13 chr2: 128,185,099-128,221,509 , GRCh38.p12 chr2: 127,427,523-127,463,933 LOC105373608, PROC
    nsv3970903copy number variation1nstd168human GRCh38 chr2: 127,398,150-127,469,161 , GRCh37.p13 chr2: 128,155,726-128,226,737 LOC105373608, MAP3K2-DT, 2 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
    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
    nsv3908729copy number variation1nstd102humanUncertain significance GRCh37 chr2: 127,820,782-131,285,027 , GRCh38 chr2: 127,063,206-130,527,454 , NCBI36 chr2: 127,537,252-131,001,497 LINC01854, CCDC115, 95 more genes
    nsv3907989copy number variation1nstd102humanPathogenic GRCh38 chr2: 121,824,798-128,870,804 , GRCh37 chr2: 122,582,374-129,628,378 , NCBI36 chr2: 122,298,844-129,344,848 AMMECR1L, UGGT1, 69 more genes
    nsv3901803copy number variation1nstd102humanLikely pathogenic NCBI36 chr2: 123,321,402-130,019,624 , GRCh37 chr2: 123,604,932-130,303,154 , GRCh38 chr2: 122,847,356-129,545,581 BIN1, ERCC3, 68 more genes
    nsv3899901copy number variation1nstd102humanPathogenic GRCh37 chr2: 123,081,919-129,129,278 , NCBI36 chr2: 122,798,389-128,845,748 , GRCh38 chr2: 122,324,343-128,371,704 TEX51, ERCC3, 63 more genes
    nsv3898212copy number variation1nstd102humanPathogenic NCBI36 chr2: 123,644,035-128,934,119 , GRCh38 chr2: 123,169,989-128,460,075 , GRCh37 chr2: 123,927,565-129,217,649 RNA5SP103, MAP3K2, 59 more genes
    nsv3897428copy number variation1nstd102humanPathogenic GRCh38 chr2: 123,445,762-140,592,538 , NCBI36 chr2: 123,919,808-141,066,577 , GRCh37 chr2: 124,203,338-141,350,107 ARHGAP42P2, LOC647996, 278 more genes
    nsv3894414copy number variation1nstd102humanPathogenic GRCh37 chr2: 118,843,900-135,722,308 , GRCh38 chr2: 118,086,324-134,964,738 , NCBI36 chr2: 118,560,370-135,438,778 RHOQP2, POTEE, 287 more genes
    nsv3892279copy number variation1nstd102humanPathogenic NCBI36 chr2: 115,776,113-129,545,173 , GRCh37 chr2: 116,059,643-129,828,703 , GRCh38 chr2: 115,302,067-129,071,130 MAP3K2, RPL27P7, 144 more genes
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