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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5673339copy number variation1nstd102humanPathogenic GRCh37 chr21: 45,194,083-45,196,150 , GRCh38.p12 chr21: 43,774,202-43,776,269 CSTB
    nsv5564322copy number variation2nstd102humanUncertain significance GRCh37 chr21: 44,838,130-45,196,150 , GRCh38.p12 chr21: 43,418,250-43,776,269 LOC107987302, PDXK, 11 more genes
    nsv5545581insertion1nstd206human GRCh38 chr21: 43,776,479-43,776,481 , GRCh37.p13 chr21: 45,196,360-45,196,362 CSTB
    nsv5543954copy number variation1nstd206human GRCh38 chr21: 43,772,253-43,772,996 , GRCh37.p13 chr21: 45,192,134-45,192,877 CSTB
    nsv5375565translocation1nstd200human GRCh38 chr21: 43,772,321-43,772,321 , GRCh38 chr21: 43,772,970-43,772,970 , GRCh37.p13 chr21: 45,192,851-45,192,851 , GRCh37.p13 chr21: 45,192,202-45,192,202 CSTB
    nsv4863417copy number variation1nstd200human GRCh37 chr21: 45,192,200-45,192,854 , GRCh38.p12 chr21: 43,772,319-43,772,973 CSTB
    nsv4730021copy number variation1nstd102humanPathogenic GRCh37 chr21: 14,629,063-48,090,317 , GRCh38.p12 chr21: 13,256,742-46,670,405 LINC01547, RRP1B, 649 more genes
    nsv4683789copy number variation1nstd102humanUncertain significance GRCh37 chr21: 45,192,546-45,197,256 , GRCh38.p12 chr21: 43,772,665-43,777,375 CSTB, LOC105372825
    nsv4682475copy number variation1nstd102humanPathogenic GRCh37 chr21: 44,836,602-45,629,566 , GRCh38.p12 chr21: 43,416,722-44,209,683 AGPAT3, LINC00313, 29 more genes
    nsv4682183copy number variation2nstd102humanUncertain significance, Pathogenic GRCh37 chr21: 44,838,120-45,629,566 , GRCh38.p12 chr21: 43,418,240-44,209,683 LOC105372826, LOC105372829, 29 more genes
    nsv4681891copy number variation1nstd102humanUncertain significance GRCh37 chr21: 43,792,871-46,330,697 , GRCh38.p12 chr21: 42,372,762-44,910,782 AIRE, MTND5P1, 105 more genes
    nsv4679058copy number variation1nstd189human GRCh37.p13 chr21: 14,468,835-48,129,895 , GRCh38.p12 chr21: 13,096,514-46,699,983 ADARB1, AIRE, 652 more genes
    nsv4676376copy number variation1nstd102humanPathogenic GRCh37 chr21: 43,472,147-48,097,372 , GRCh38.p12 chr21: 42,052,038-46,677,460 LOC101928369, PTTG1IP, 167 more genes
    nsv4676321copy number variation1nstd102humanPathogenic GRCh37 chr21: 42,044,877-48,100,155 , GRCh38.p12 chr21: 40,672,951-46,680,243 LOC105377137, KRTAP12-4, 194 more genes
    nsv4676282copy number variation1nstd102humanLikely benign GRCh37 chr21: 44,847,202-45,265,689 , GRCh38.p12 chr21: 43,427,322-43,845,808 MIR6070, TMEM97P1, 15 more genes
    nsv4676266copy number variation1nstd102humanUncertain significance GRCh37 chr21: 45,125,672-48,097,372 , GRCh38.p12 chr21: 43,705,791-46,677,460 PTTG1IP, PFKL, 113 more genes
    nsv4457830copy number variation1nstd102humanPathogenic GRCh37 chr21: 43,756,585-46,240,105 , GRCh38.p12 chr21: 42,336,476-44,820,190 RSPH1-DT, PKNOX1, 105 more genes
    nsv4457803copy number variation1nstd102humanPathogenic GRCh37 chr21: 44,310,057-47,503,155 , GRCh38.p12 chr21: 42,889,947-46,083,241 SLX9, PICSAR, 122 more genes
    nsv4457505copy number variation1nstd102humanUncertain significance GRCh37 chr21: 44,735,958-45,448,138 , GRCh38.p12 chr21: 43,316,078-44,028,257 RPL31P1, RNU6-859P, 26 more genes
    nsv4436256copy number variation1nstd102humanUncertain significance GRCh37 chr21: 44,627,837-46,920,235 , GRCh38.p12 chr21: 43,207,727-45,500,321 PTTG1IP, PFKL, 98 more genes
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