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Items: 1 to 20 of 124

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5358496translocation1nstd200human GRCh38 chr2: 24,073,850-24,073,850 , GRCh38 chr2: 24,073,800-24,073,800 , GRCh37.p13 chr2: 24,296,720-24,296,720 , GRCh37.p13 chr2: 24,296,670-24,296,670 SF3B6
    nsv5074913mobile element insertion1nstd203human GRCh38 chr2: 24,067,502-24,067,517 , GRCh37.p13 chr2: 24,290,372-24,290,387 FKBP1B, SF3B6
    nsv4595412copy number variation1nstd183human GRCh37 chr2: 23,580,771-24,720,058 , GRCh38.p12 chr2: 23,357,900-24,497,189 LOC102723401, PFN4, 24 more genes
    nsv4466783mobile element insertion1nstd166human GRCh37.p13 chr2: 24,290,500-24,290,500 , GRCh38.p12 chr2: 24,067,630-24,067,630 SF3B6, FKBP1B
    nsv4335876sequence alteration1nstd166human GRCh37.p13 chr2: 20,021,666-53,788,063 , GRCh38.p12 chr2: 19,821,905-53,560,926 , ADCY3, 531 more genes
    nsv4318621inversion1nstd166human GRCh37.p13 chr2: 21,612,232-41,909,281 , GRCh38.p12 chr2: 21,389,360-41,682,141 , CAD, 329 more genes
    nsv4063885copy number variation1nstd166human GRCh37.p13 chr2: 24,297,000-24,302,000 , GRCh38.p12 chr2: 24,074,130-24,079,130 FAM228B, SF3B6, 1 more genes
    nsv3919769copy number variation1nstd102humanPathogenic NCBI36 chr2: 22,776,056-33,845,581 , GRCh37.p13 chr2: 22,922,551-33,992,077 , GRCh38.p12 chr2: 22,699,679-33,767,010 RNA5SP88, EIF2B4, 213 more genes
    nsv3908605copy number variation1nstd102humanPathogenic GRCh37 chr2: 66,097-55,797,773 , GRCh38 chr2: 66,097-55,570,637 , NCBI36 chr2: 56,097-55,651,277 SLC35F6, LOC105374458, 801 more genes
    nsv3908288copy number variation1nstd102humanPathogenic GRCh37 chr2: 236,816-46,210,371 , GRCh38 chr2: 236,816-45,983,232 , NCBI36 chr2: 226,816-46,063,875 ALLC, LOC105373429, 674 more genes
    nsv3908038copy number variation1nstd102humanPathogenic GRCh37 chr2: 12,770-33,936,576 , NCBI36 chr2: 2,770-33,790,080 , GRCh38 chr2: 12,770-33,711,509 LOC105373394, PGAM1P6, 507 more genes
    nsv3907033copy number variation1nstd102humanPathogenic NCBI36 chr2: 20,341-28,496,035 , GRCh38 chr2: 30,341-28,419,664 , GRCh37 chr2: 30,341-28,642,531 GTF3C2-AS1, LOC105373399, 434 more genes
    nsv3903805copy number variation1nstd102humanBenign GRCh37 chr2: 7,635,254-88,005,418 , NCBI36 chr2: 7,552,705-87,786,533 , GRCh38 chr2: 7,495,123-87,705,899 LOC101927723, SANBR, 1246 more genes
    nsv3896997copy number variation1nstd102humanPathogenic GRCh38 chr2: 12,770-25,039,694 , GRCh37 chr2: 12,770-25,262,563 , NCBI36 chr2: 2,770-25,116,067 LOC105373359, MYT1L-AS1, 333 more genes
    nsv3895625copy number variation1nstd102humanUncertain significance GRCh37 chr2: 24,012,152-24,309,982 , NCBI36 chr2: 23,865,656-24,163,486 , GRCh38 chr2: 23,789,282-24,087,112 SDHCP3, RNU6-370P, 11 more genes
    nsv3893260copy number variation1nstd102humanPathogenic GRCh37 chr2: 17,019-26,541,714 , GRCh38 chr2: 17,019-26,318,846 , NCBI36 chr2: 7,019-26,395,218 LOC102723389, LOC105373433, 362 more genes
    nsv3890734copy number variation1nstd102humanPathogenic NCBI36 chr2: 22,656,029-28,601,557 , GRCh37 chr2: 22,802,524-28,748,053 , GRCh38 chr2: 22,579,652-28,525,186 MAPRE3-AS1, PPIL1P1, 142 more genes
    nsv3885544copy number variation1nstd102humanPathogenic GRCh37 chr2: 14,238-243,048,760 , GRCh38.p12 chr2: 14,238-242,106,609 RNU6-674P, KANSL3, 3735 more genes
    nsv3882615copy number variation2nstd102humanPathogenic GRCh37 chr2: 12,771-242,783,384 , GRCh38.p12 chr2: 12,771-241,841,232 MTND2P22, LOC112268410, 3724 more genes
    nsv3879320copy number variation1nstd102humanPathogenic GRCh37 chr2: 22,665,048-52,850,368 , GRCh38.p12 chr2: 22,442,176-52,623,230 ATL2, UBXN2A, 465 more genes
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