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Items: 1 to 20 of 36

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv6309467copy number variation1nstd102humanUncertain significance GRCh37 chr12: 124,106,303-124,106,487 , GRCh38.p12 chr12: 123,621,756-123,621,940 EIF2B1
    nsv7094033copy number variation1nstd102humanUncertain significance GRCh37 chr12: 124,116,872-124,118,104 , GRCh38.p12 chr12: 123,632,325-123,633,557 EIF2B1, GTF2H3
    nsv3908321copy number variation1nstd102humanBenign GRCh37 chr12: 124,113,899-124,192,840 , GRCh38.p12 chr12: 123,629,352-123,708,293 EIF2B1, GTF2H3, 1 more genes
    nsv6112667copy number variation1nstd102humanUncertain significance GRCh38 chr12: 123,628,460-123,712,468 , GRCh37.p13 chr12: 124,113,007-124,197,015 EIF2B1, LOC105370042, 3 more genes
    nsv6309253copy number variation2nstd102humanUncertain significance GRCh37 chr12: 124,114,696-124,192,260 , GRCh38.p12 chr12: 123,630,149-123,707,713 EIF2B1, TCTN2, 1 more genes
    nsv6315233copy number variation1nstd102humanUncertain significance GRCh37 chr12: 124,105,569-124,118,324 , GRCh38.p12 chr12: 123,621,022-123,633,777 EIF2B1, DDX55, 1 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 EIF2B1, LINC00944, 132 more genes
    nsv4455692copy number variation1nstd102humanPathogenic GRCh37 chr12: 122,169,403-129,084,163 , GRCh38.p12 chr12: 121,731,497-128,599,618 EIF2B1, LOC107987176, 147 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 EIF2B1, NCOR2, 161 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 EIF2B1, RILPL2, 129 more genes
    nsv5381782copy number variation1nstd102humanPathogenic GRCh37 chr12: 123,878,845-126,829,341 , GRCh38.p12 chr12: 123,394,298-126,344,795 EIF2B1, DDX55, 55 more genes
    nsv3904242copy number variation1nstd102humanPathogenic GRCh37 chr12: 1-133,851,895 , GRCh38.p12 chr12: 45,740-133,265,309 EIF2B1, RNA5SP369, 2454 more genes
    nsv3905447copy number variation2nstd102humanPathogenic GRCh37 chr12: 173,787-133,777,902 , GRCh38.p12 chr12: 64,621-133,201,316 EIF2B1, LOH12CR2, 2452 more genes
    nsv3897722copy number variation1nstd102humanPathogenic GRCh37 chr12: 191,619-133,777,645 , GRCh38.p12 chr12: 82,453-133,201,059 EIF2B1, RNU4ATAC16P, 2452 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 EIF2B1, BTG1P1, 2451 more genes
    nsv3904719copy number variation1nstd102humanPathogenic GRCh37 chr12: 621,220-133,779,118 , GRCh38.p12 chr12: 512,054-133,202,532 EIF2B1, OR5BT1P, 2441 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 EIF2B1, TAOK3, 386 more genes
    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 EIF2B1, LOC105370080, 376 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 EIF2B1, TMED2, 339 more genes
    nsv3896575copy number variation1nstd102humanPathogenic GRCh37 chr12: 120,367,241-133,777,645 , GRCh38.p12 chr12: 119,929,437-133,201,059 EIF2B1, LOC107984448, 306 more genes
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