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Items: 1 to 20 of 107

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5560580sequence alteration1nstd206human GRCh38 chr2: 151,447,581-231,256,535 , GRCh37.p13 chr2: 152,304,095-232,121,248 , ATIC, 1163 more genes
    nsv4916541copy number variation1nstd200human GRCh38 chr2: 208,402,584-208,404,608 , GRCh37.p13 chr2: 209,267,309-209,269,333 LOC105373855, PTH2R
    nsv4795729copy number variation1nstd200human GRCh37 chr2: 209,267,309-209,269,333 , GRCh38.p12 chr2: 208,402,584-208,404,608 LOC105373855, PTH2R
    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
    nsv4674585copy number variation1nstd102humanUncertain significance GRCh37 chr2: 208,965,516-209,396,109 , GRCh38.p12 chr2: 208,100,792-208,531,384 IDH1, LOC100507443, 16 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
    nsv4465945mobile element insertion1nstd166human GRCh37.p13 chr2: 209,269,840-209,269,840 , GRCh38.p12 chr2: 208,405,115-208,405,115 PTH2R, LOC105373855
    nsv4453337copy number variation1nstd102humanUncertain significance GRCh37 chr2: 208,965,515-209,383,510 , GRCh38.p12 chr2: 208,100,791-208,518,785 CRYGC, RPSAP27, 16 more genes
    nsv4452475copy number variation1nstd102humanUncertain significance GRCh37 chr2: 209,055,235-209,503,614 , GRCh38.p12 chr2: 208,190,511-208,638,890 IDH1-AS1, PTH2R, 10 more genes
    nsv4451411copy number variation1nstd102humanUncertain significance GRCh37 chr2: 208,956,981-209,383,510 , GRCh38.p12 chr2: 208,092,257-208,518,785 TPT1P2, MYL6BP1, 16 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
    nsv4315068inversion1nstd166human GRCh37.p13 chr2: 208,775,197-231,007,646 , GRCh38.p12 chr2: 207,910,473-230,142,930 , BCS1L, 344 more genes
    nsv3971484copy number variation1nstd168human GRCh38 chr2: 208,360,242-208,403,699 , GRCh37.p13 chr2: 209,224,967-209,268,424 LOC105373855, PTH2R, 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
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