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Items: 1 to 20 of 189

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5951198insertion1nstd209human GRCh38 chr2: 197,418,234-197,418,234 , GRCh37.p13 chr2: 198,282,958-198,282,958 SF3B1
    nsv5560580sequence alteration1nstd206human GRCh38 chr2: 151,447,581-231,256,535 , GRCh37.p13 chr2: 152,304,095-232,121,248 , ATIC, 1163 more genes
    nsv5366753translocation1nstd200human GRCh38 chr2: 197,388,286-197,388,286 , GRCh38 chr2: 197,305,627-197,305,627 , GRCh37.p13 chr2: 198,253,010-198,253,010 , GRCh37.p13 chr2: 198,170,351-198,170,351 SF3B1, ANKRD44
    nsv5063037mobile element insertion1nstd203human GRCh38 chr2: 197,418,234-197,418,264 , GRCh37.p13 chr2: 198,282,958-198,282,988 SF3B1
    nsv4768322copy number variation1nstd102humanPathogenic GRCh37 chr2: 197,359,024-201,383,462 , GRCh38.p12 chr2: 196,494,300-200,518,739 ANKRD44-DT, ATP5MC2P3, 48 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
    nsv4716529copy number variation1nstd102humanPathogenic GRCh37 chr2: 190,345,272-200,212,289 , GRCh38.p12 chr2: 189,480,546-199,347,566 C2orf66, LINC01821, 105 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
    nsv4559451mobile element insertion1nstd166human GRCh37.p13 chr2: 198,289,575-198,289,575 , GRCh38.p12 chr2: 197,424,851-197,424,851 SF3B1
    nsv4453090copy number variation1nstd102humanPathogenic GRCh37 chr2: 195,786,723-200,531,127 , GRCh38.p12 chr2: 194,921,999-199,666,404 RFTN2, HECW2, 54 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
    nsv4316119inversion1nstd166human GRCh37.p13 chr2: 187,130,612-218,396,189 , GRCh38.p12 chr2: 186,265,885-217,531,466 , ACADL, 453 more genes
    nsv4091414copy number variation1nstd166human GRCh37.p13 chr2: 198,292,476-198,295,169 , GRCh38.p12 chr2: 197,427,752-197,430,445 SF3B1
    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
    nsv3923866copy number variation1nstd102humanLikely pathogenic NCBI36 chr2: 195,941,520-200,787,299 , GRCh37.p13 chr2: 196,233,275-201,079,054 , GRCh38.p12 chr2: 195,368,551-200,214,331 HSPD1, HSPE1, 60 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
    nsv3908231copy number variation1nstd102humanPathogenic NCBI36 chr2: 196,233,563-204,542,456 , GRCh38 chr2: 195,660,594-203,969,488 , GRCh37 chr2: 196,525,318-204,834,211 LINC01877, MAIP1, 170 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
    nsv3907002copy number variation1nstd102humanPathogenic GRCh37 chr2: 195,379,883-199,410,661 , GRCh38 chr2: 194,515,159-198,545,937 , NCBI36 chr2: 195,088,128-199,118,906 LOC105373817, LINC01923, 47 more genes
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