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Items: 1 to 20 of 131

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5381782copy number variation1nstd102humanPathogenic GRCh37 chr12: 123,878,845-126,829,341 , GRCh38.p12 chr12: 123,394,298-126,344,795 DDX55, ZNF664, 55 more genes
    nsv4529464copy number variation1nstd166human GRCh37.p13 chr12: 126,464,999-126,727,000 , GRCh38.p12 chr12: 125,980,453-126,242,454 , LINC00939, 6 more genes
    nsv4508775mobile element insertion1nstd166human GRCh37.p13 chr12: 126,452,250-126,452,250 , GRCh38.p12 chr12: 125,967,704-125,967,704 LINC00939
    nsv4455692copy number variation1nstd102humanPathogenic GRCh37 chr12: 122,169,403-129,084,163 , GRCh38.p12 chr12: 121,731,497-128,599,618 LOC107987176, LRRC43, 147 more genes
    nsv4385263copy number variation1nstd173human GRCh37 chr12: 126,463,562-126,727,689 , GRCh38.p12 chr12: 125,979,016-126,243,143 , LINC00939, 6 more genes
    nsv4384450copy number variation1nstd173human GRCh37 chr12: 126,463,562-126,720,475 , GRCh38.p12 chr12: 125,979,016-126,235,929 , LOC100420118, 6 more genes
    nsv4370349copy number variation1nstd173human GRCh37 chr12: 126,463,562-126,726,862 , GRCh38.p12 chr12: 125,979,016-126,242,316 , LINC02359, 6 more genes
    nsv4349911copy number variation1nstd102humanPathogenic GRCh37 chr12: 125,451,405-133,810,935 , GRCh38.p12 chr12: 124,966,859-133,234,349 LOC107987177, GOLGA3, 159 more genes
    nsv4230396copy number variation1nstd166human GRCh37.p13 chr12: 126,440,356-126,457,015 , GRCh38.p12 chr12: 125,955,810-125,972,469 LINC00939
    nsv3924220copy number variation1nstd102humanPathogenic GRCh38 chr12: 115,131,583-133,166,920 , NCBI36 chr12: 114,053,771-132,253,579 , GRCh37 chr12: 115,569,388-133,743,506 LOC105370080, LINC02985, 376 more genes
    nsv3923612copy number variation1nstd102humanPathogenic GRCh38 chr12: 120,718,786-127,500,215 , GRCh37 chr12: 121,156,589-127,984,760 , NCBI36 chr12: 119,640,972-126,550,713 NCOR2, LOC105378258, 161 more genes
    nsv3923347copy number variation1nstd102humanPathogenic NCBI36 chr12: 119,619,858-132,289,149 , GRCh37 chr12: 121,135,475-133,779,076 , GRCh38 chr12: 120,697,672-133,202,490 LOC105370044, RNU6-1017P, 273 more genes
    nsv3921145copy number variation1nstd102humanPathogenic GRCh37 chr12: 123,929,305-133,767,986 , GRCh38 chr12: 123,444,758-133,191,400 , NCBI36 chr12: 122,495,258-132,278,059 ZNF268, PTP4A1P2, 193 more genes
    nsv3920557copy number variation1nstd102humanPathogenic GRCh37 chr12: 118,603,264-133,758,908 , GRCh38 chr12: 118,165,459-133,182,322 , NCBI36 chr12: 117,087,647-132,268,981 TMED2, GCN1, 339 more genes
    nsv3917673copy number variation1nstd102humanUncertain significance NCBI36 chr12: 124,913,308-126,839,228 , GRCh38 chr12: 125,862,809-127,788,730 , GRCh37 chr12: 126,347,355-128,273,275 LOC105370061, LOC105370064, 40 more genes
    nsv3916210copy number variation1nstd102humanPathogenic GRCh37 chr12: 122,355,664-128,287,262 , GRCh38 chr12: 121,917,758-127,802,717 , NCBI36 chr12: 120,840,047-126,853,215 RILPL2, TCTN2, 129 more genes
    nsv3914999copy number variation1nstd102humanPathogenic NCBI36 chr12: 122,035,702-129,765,072 , GRCh38 chr12: 122,985,202-130,714,574 , GRCh37 chr12: 123,469,749-131,199,119 LINC00944, ATP6V0A2, 132 more genes
    nsv3914194copy number variation1nstd102humanPathogenic NCBI36 chr12: 100,698-132,283,466 , GRCh37 chr12: 282,465-133,773,393 , GRCh38 chr12: 121,271-133,196,807 , BTG1P1, 2451 more genes
    nsv3913894copy number variation1nstd102humanPathogenic NCBI36 chr12: 113,190,591-132,287,975 , GRCh38 chr12: 114,268,403-133,201,316 , GRCh37 chr12: 114,706,208-133,777,902 TAOK3, LINC02405, 386 more genes
    nsv3911281copy number variation1nstd102humanPathogenic GRCh38 chr12: 123,509,825-133,191,400 , GRCh37 chr12: 123,994,372-133,767,986 , NCBI36 chr12: 122,560,325-132,278,059 TMEM132C, RPL23AP67, 192 more genes
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