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Items: 1 to 20 of 133

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5723940mobile element insertion1nstd211human GRCh38 chr2: 210,013,813-210,013,813 , GRCh37.p13 chr2: 210,878,537-210,878,537 RPE
    nsv5560580sequence alteration1nstd206human GRCh38 chr2: 151,447,581-231,256,535 , GRCh37.p13 chr2: 152,304,095-232,121,248 , ATIC, 1163 more genes
    nsv4728725copy number variation1nstd102humanPathogenic GRCh37 chr2: 178,397,959-243,007,457 , GRCh38.p12 chr2: 177,533,231-242,065,306 LOC105376755, FZD7, 1013 more genes
    nsv4728545copy number variation1nstd102humanPathogenic GRCh37 chr2: 204,445,619-212,580,788 , GRCh38.p12 chr2: 203,580,896-211,716,063 FASTKD2, MYL6BP1, 110 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
    nsv4436532copy number variation1nstd102humanPathogenic GRCh37 chr2: 188,926,928-225,298,653 , GRCh38.p12 chr2: 188,062,201-224,433,936 MARS2, KRT18P19, 575 more genes
    nsv4435891copy number variation1nstd102humanPathogenic GRCh37 chr2: 210,779,657-239,879,183 , GRCh38.p12 chr2: 209,914,933-238,957,487 XRCC5, LINC01173, 494 more genes
    nsv4316119inversion1nstd166human GRCh37.p13 chr2: 187,130,612-218,396,189 , GRCh38.p12 chr2: 186,265,885-217,531,466 , ACADL, 453 more genes
    nsv4315068inversion1nstd166human GRCh37.p13 chr2: 208,775,197-231,007,646 , GRCh38.p12 chr2: 207,910,473-230,142,930 , BCS1L, 344 more genes
    nsv4076070copy number variation1nstd166human GRCh37.p13 chr2: 210,855,905-210,890,548 , GRCh38.p12 chr2: 209,991,181-210,025,824 UNC80, RPE, 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
    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
    nsv3908112copy number variation1nstd102humanPathogenic GRCh38 chr2: 190,310,736-241,892,770 , NCBI36 chr2: 190,883,707-242,483,594 , GRCh37 chr2: 191,175,462-242,834,921 LOC101928084, ECEL1P1, 871 more genes
    nsv3906497copy number variation1nstd102humanPathogenic GRCh37 chr2: 207,923,610-212,110,328 , NCBI36 chr2: 207,631,855-211,818,573 , GRCh38 chr2: 207,058,886-211,245,603 LINC01802, CRYGB, 64 more genes
    nsv3903696copy number variation1nstd102humanPathogenic NCBI36 chr2: 200,510,241-210,604,893 , GRCh37 chr2: 200,801,996-210,896,648 , GRCh38 chr2: 199,937,273-210,031,924 MTND4P23, BICD1P1, 206 more genes
    nsv3902143copy number variation1nstd102humanPathogenic GRCh38 chr2: 180,513,793-224,302,848 , NCBI36 chr2: 181,086,765-224,875,809 , GRCh37 chr2: 181,378,520-225,167,565 LINC00607, ABCA12, 644 more genes
    nsv3896612copy number variation1nstd102humanPathogenic GRCh38 chr2: 192,938,826-215,705,052 , NCBI36 chr2: 193,511,797-216,278,020 , GRCh37 chr2: 193,803,552-216,569,775 MTND4P30, NPM1P46, 320 more genes
    nsv3896499copy number variation1nstd102humanPathogenic GRCh37 chr2: 190,300,875-242,783,384 , NCBI36 chr2: 190,009,120-242,432,057 , GRCh38 chr2: 189,436,149-241,841,232 RNU6-1206P, MIR3131, 883 more genes
    nsv3892523copy number variation1nstd102humanPathogenic GRCh37 chr2: 205,771,566-210,896,173 , NCBI36 chr2: 205,479,811-210,604,418 , GRCh38 chr2: 204,906,843-210,031,449 SNORD51, MYL6BP1, 84 more genes
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