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Items: 1 to 20 of 137

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7098844copy number variation1nstd102humanUncertain significance GRCh37 chr2: 65,296,579-71,305,638 , GRCh38.p12 chr2: 65,069,445-71,078,508 SNRNP27, TEX261, 121 more genes
    nsv7096902copy number variation3nstd102humanPathogenic GRCh37 chr2: 71,004,499-74,779,761 , GRCh38.p12 chr2: 70,777,367-74,552,634 TAF13P2, LOC107985897, 100 more genes
    nsv7096520copy number variation1nstd102humanUncertain significance GRCh37 chr2: 69,240,632-74,779,761 , GRCh38.p12 chr2: 69,013,500-74,552,634 LOC112268419, DQX1, 140 more genes
    nsv7052037inversion1nstd229human GRCh38 chr2: 69,732,002-70,868,430 , GRCh37.p13 chr2: 69,959,134-70,660,850 PCYOX1, FAM136A, 30 more genes
    nsv7044539inversion1nstd229human GRCh38 chr2: 70,809,122-70,820,679 , GRCh37.p13 chr2: 71,036,254-71,047,811 , GRCh37.p13 chr2|NW_004504299.1: 375,404-386,961 CLEC4F, MOB4P1
    nsv7043199inversion1nstd229human GRCh38 chr2: 70,623,217-71,162,741 , GRCh37.p13 chr2|NW_004504299.1: 189,499-599,580 , GRCh37.p13 chr2: 70,850,349-71,260,429 LOC105374796, MCEE, 22 more genes
    nsv7042226inversion1nstd229human GRCh38 chr2: 69,994,280-70,959,896 , GRCh37.p13 chr2|NW_004504299.1: 1-526,177 , GRCh37.p13 chr2: 70,660,851-71,187,026 PCBP1-AS1, SNRPG, 28 more genes
    nsv7038240inversion1nstd229human GRCh38 chr2: 70,811,149-70,820,688 , GRCh37.p13 chr2|NW_004504299.1: 377,431-386,970 , GRCh37.p13 chr2: 71,038,281-71,047,820 MOB4P1, CLEC4F
    nsv6675747copy number variation1nstd229human GRCh38 chr2: 70,808,701-70,810,000 , GRCh37.p13 chr2|NW_004504299.1: 374,983-376,282 , GRCh37.p13 chr2: 71,035,833-71,037,132 MOB4P1, CLEC4F
    nsv6662077copy number variation1nstd229human GRCh38 chr2: 70,796,939-70,842,671 , GRCh37.p13 chr2|NW_004504299.1: 363,221-408,952 , GRCh37.p13 chr2: 71,024,071-71,069,801 CD207, HMGN2P21, 2 more genes
    nsv6661939copy number variation1nstd229human GRCh38 chr2: 70,813,801-70,830,100 , GRCh37.p13 chr2|NW_004504299.1: 380,083-396,381 , GRCh37.p13 chr2: 71,040,933-71,057,231 CD207, CLEC4F
    nsv6659156copy number variation1nstd229human GRCh38 chr2: 70,811,701-70,835,500 , GRCh37.p13 chr2|NW_004504299.1: 377,983-401,781 , GRCh37.p13 chr2: 71,038,833-71,062,631 CD207, CLEC4F, 1 more genes
    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
    nsv6551949inversion1nstd223human GRCh38 chr2: 70,825,567-70,826,137 , GRCh37.p13 chr2|NW_004504299.1: 391,848-392,418 , GRCh37.p13 chr2: 71,052,698-71,053,268 CLEC4F, CD207
    nsv6541830inversion1nstd223human GRCh38 chr2: 69,732,004-70,868,425 , GRCh37.p13 chr2: 69,959,136-70,660,850 LOC105374794, BRD7P6, 30 more genes
    nsv6351024copy number variation1nstd223human GRCh38 chr2: 70,823,701-70,962,100 , GRCh37.p13 chr2|NW_004504299.1: 389,982-528,381 , GRCh37.p13 chr2: 71,050,832-71,189,230 ATP6V1B1, VAX2, 5 more genes
    nsv6315390copy number variation1nstd102humanPathogenic GRCh37 chr2: 1-243,199,373 , GRCh38.p12 chr2: 10,001-242,157,305 LOC112268439, RNA5SP116, 3737 more genes
    nsv6315247copy number variation1nstd102humanUncertain significance GRCh38 chr2: 69,512,973-71,153,026 , GRCh37.p13 chr2: 69,740,105-71,380,156 TIA1, SNRPG, 52 more genes
    nsv6314726copy number variation1nstd102humanLikely pathogenic GRCh37 chr2: 40,607,042-146,902,764 , GRCh38.p12 chr2: 40,379,902-146,145,196 ACTG2, ACYP2, 1713 more genes
    nsv6284795insertion1nstd214human GRCh38 chr2: 70,813,618-70,813,618 , GRCh37.p13 chr2|NW_004504299.1: 379,900-379,900 , GRCh37.p13 chr2: 71,040,750-71,040,750 CLEC4F
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