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Items: 1 to 20 of 99

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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
    nsv5315147copy number variation1nstd204human GRCh37.p13 chr2: 231,905,352-231,913,945 , GRCh38.p13 chr2: 231,040,637-231,049,230 C2orf72, LOC112268432
    nsv5211604copy number variation1nstd204human GRCh38.p13 chr2: 231,040,445-231,049,233 , GRCh37.p13 chr2: 231,905,160-231,913,948 LOC112268432, C2orf72
    nsv4806236copy number variation1nstd200human GRCh37 chr2: 231,905,362-231,913,936 , GRCh38.p12 chr2: 231,040,647-231,049,221 LOC112268432, C2orf72
    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
    nsv4679888copy number variation1nstd189human GRCh37.p13 chr2: 231,366,319-232,108,260 , GRCh38.p12 chr2: 230,501,604-231,243,547 HTR2B, PSMD1, 21 more genes
    nsv4673913copy number variation1nstd102humanPathogenic GRCh37 chr2: 230,814,690-242,783,384 , GRCh38.p12 chr2: 229,949,974-241,841,232 MIR2467, D2HGDH, 270 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
    nsv3924332copy number variation1nstd102humanPathogenic NCBI36 chr2: 230,011,029-233,894,271 , GRCh37.p13 chr2: 230,302,785-234,229,532 , GRCh38.p12 chr2: 229,438,069-233,320,886 EIF4E2, LOC107985996, 100 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
    nsv3907553copy number variation1nstd102humanPathogenic GRCh37 chr2: 228,878,865-235,885,068 , NCBI36 chr2: 228,587,109-235,549,807 , GRCh38 chr2: 228,014,149-234,976,424 HSPE1P9, UGT1A, 151 more genes
    nsv3906029copy number variation1nstd102humanPathogenic NCBI36 chr2: 227,916,238-235,912,551 , GRCh38 chr2: 227,343,278-235,339,168 , GRCh37 chr2: 228,207,994-236,247,812 SP110, LOC107985994, 167 more genes
    nsv3905997copy number variation1nstd102humanPathogenic NCBI36 chr2: 229,296,539-241,992,955 , GRCh37 chr2: 229,588,295-242,344,282 , GRCh38 chr2: 228,723,579-241,404,867 UGT1A8, UGT1A12P, 265 more genes
    nsv3897593copy number variation1nstd102humanPathogenic GRCh38 chr2: 227,803,148-242,086,301 , NCBI36 chr2: 228,376,108-242,677,125 , GRCh37 chr2: 228,667,864-243,028,452 MIR4441, LOC105373960, 302 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
    nsv3894025copy number variation1nstd102humanPathogenic NCBI36 chr2: 218,674,727-242,717,069 , GRCh37 chr2: 218,966,482-243,059,659 , GRCh38 chr2: 218,101,759-242,126,245 DNAJB6P3, LOC105373923, 483 more genes
    nsv3893827copy number variation1nstd102humanPathogenic NCBI36 chr2: 227,551,089-237,459,981 , GRCh38 chr2: 226,978,129-236,886,599 , GRCh37 chr2: 227,842,845-237,795,242 B3GNT7, SPATA3, 193 more genes
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