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Items: 1 to 20 of 236

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5681669mobile element insertion2nstd211human GRCh38 chr2: 237,585,184-237,585,184 , GRCh37.p13 chr2: 238,493,827-238,493,827 RAB17
    nsv5446210copy number variation1nstd206human GRCh38 chr2: 237,579,201-237,579,272 , GRCh37.p13 chr2: 238,487,844-238,487,915 RAB17
    nsv5393979mobile element insertion1nstd206human GRCh38 chr2: 237,585,184-237,585,235 , GRCh37.p13 chr2: 238,493,827-238,493,878 RAB17
    nsv5381323copy number variation1nstd102humanPathogenic GRCh37 chr2: 237,201,756-243,048,760 , GRCh38.p12 chr2: 236,293,113-242,106,609 LRRFIP1, GPR35, 133 more genes
    nsv5351247translocation1nstd200human GRCh38 chr2: 237,579,272-237,579,272 , GRCh38 chr2: 237,579,201-237,579,201 , GRCh37.p13 chr2: 238,487,844-238,487,844 , GRCh37.p13 chr2: 238,487,915-238,487,915 RAB17
    nsv5339979translocation1nstd200human GRCh37 chr2: 238,487,844-238,487,844 , GRCh37 chr2: 238,487,915-238,487,915 , GRCh38.p12 chr2: 237,579,272-237,579,272 , GRCh38.p12 chr2: 237,579,201-237,579,201 RAB17
    nsv5070061mobile element insertion1nstd203human GRCh38 chr2: 237,585,168-237,585,184 , GRCh37.p13 chr2: 238,493,811-238,493,827 RAB17
    nsv4914104copy number variation1nstd200human GRCh38 chr2: 237,575,142-237,588,314 , GRCh37.p13 chr2: 238,483,785-238,496,957 RAB17
    nsv4914103copy number variation1nstd200human GRCh38 chr2: 237,554,560-237,656,007 , GRCh37.p13 chr2: 238,463,203-238,564,650 RNU6-1140P, PRLH, 4 more genes
    nsv4790060copy number variation1nstd200human GRCh37 chr2: 238,483,984-238,484,087 , GRCh38.p12 chr2: 237,575,341-237,575,444 RAB17
    nsv4768328copy number variation1nstd102humanPathogenic GRCh37 chr2: 233,110,452-243,028,452 , GRCh38.p12 chr2: 232,245,742-242,086,301 LOC107985836, LOC105373980, 217 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
    nsv4717759mobile element insertion1nstd186human GRCh37 chr2: 238,493,811-238,493,811 , GRCh38.p12 chr2: 237,585,168-237,585,168 RAB17
    nsv4680774copy number variation1nstd189human GRCh37.p13 chr2: 238,017,565-238,527,007 , GRCh38.p12 chr2: 237,108,922-237,618,364 , COL6A3, 10 more genes
    nsv4680542copy number variation1nstd189human GRCh37.p13 chr2: 238,017,565-238,532,953 , GRCh38.p12 chr2: 237,108,922-237,624,310 , COL6A3, 10 more genes
    nsv4674624copy number variation1nstd102humanPathogenic GRCh37 chr2: 234,791,927-242,783,384 , GRCh38.p12 chr2: 233,883,281-241,841,232 LOC93463, DUSP28, 151 more genes
    nsv4674620copy number variation1nstd102humanPathogenic GRCh37 chr2: 237,265,271-242,783,384 , GRCh38.p12 chr2: 236,356,628-241,841,232 OR6B2, COPS8, 122 more genes
    nsv4674274copy number variation1nstd102humanPathogenic GRCh37 chr2: 234,090,049-239,494,702 , GRCh38.p12 chr2: 233,181,403-238,586,061 LOC105373933, CEP19P1, 105 more genes
    nsv4674036copy number variation1nstd102humanPathogenic GRCh37 chr2: 236,172,348-241,611,309 , GRCh38.p12 chr2: 235,263,704-240,671,892 ILKAP, MLPH, 95 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
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