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Items: 1 to 20 of 130

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5606314insertion1nstd207human GRCh38 chr2: 189,665,622-189,665,622 , GRCh37.p13 chr2: 190,530,348-190,530,348 ASNSD1, ASDURF
    nsv5560580sequence alteration1nstd206human GRCh38 chr2: 151,447,581-231,256,535 , GRCh37.p13 chr2: 152,304,095-232,121,248 , ATIC, 1163 more genes
    nsv5437940copy number variation1nstd206human GRCh38 chr2: 189,665,571-189,665,735 , GRCh37.p13 chr2: 190,530,297-190,530,461 ASNSD1, ASDURF
    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
    nsv4728689copy number variation1nstd102humanLikely pathogenic GRCh37 chr2: 188,294,864-197,731,939 , GRCh38.p12 chr2: 187,430,137-196,867,215 COL3A1, COL5A2, 98 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
    nsv4674757copy number variation1nstd102humanPathogenic GRCh37 chr2: 174,690,039-195,521,582 , GRCh38.p12 chr2: 173,825,311-194,656,858 OSBPL6, DNAJC19P5, 256 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
    nsv4451512copy number variation1nstd102humanPathogenic GRCh37 chr2: 167,329,586-192,756,373 , GRCh38.p12 chr2: 166,473,076-191,891,647 LINC01117, LOC107985958, 339 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
    nsv4089022copy number variation1nstd166human GRCh37.p13 chr2: 190,530,337-190,530,937 , GRCh38.p12 chr2: 189,665,611-189,666,211 ASNSD1, ASDURF
    nsv4086377copy number variation1nstd166human GRCh37.p13 chr2: 189,493,457-190,809,233 , GRCh38.p12 chr2: 188,628,730-189,944,507 , MIR3606, 27 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
    nsv3905582copy number variation1nstd102humanPathogenic GRCh38 chr2: 176,086,763-193,201,970 , NCBI36 chr2: 176,659,737-193,774,941 , GRCh37 chr2: 176,951,491-194,066,696 RPL23AP35, HNRNPA3, 211 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
    nsv3900193copy number variation1nstd102humanPathogenic GRCh37 chr2: 178,692,457-195,990,053 , NCBI36 chr2: 178,400,703-195,698,298 , GRCh38 chr2: 177,827,730-195,125,329 OSBPL6, LOC105373771, 171 more genes
    nsv3899509copy number variation1nstd102humanLikely benign NCBI36 chr2: 190,015,349-190,262,525 , GRCh37 chr2: 190,307,104-190,554,280 , GRCh38 chr2: 189,442,378-189,689,554 ASDURF, SLC40A1, 5 more genes
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