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Items: 1 to 20 of 33

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7097025copy number variation1nstd102humanPathogenic GRCh37 chr5: 149,245,713-149,263,119 , GRCh38.p12 chr5: 149,866,150-149,883,556 PDE6A
    nsv7097026copy number variation1nstd102humanPathogenic GRCh37 chr5: 149,262,972-149,276,359 , GRCh38.p12 chr5: 149,883,409-149,896,796 PDE6A
    nsv6312182copy number variation1nstd102humanPathogenic GRCh37 chr5: 149,260,346-149,263,094 , GRCh38.p12 chr5: 149,880,783-149,883,531 PDE6A
    nsv7097516copy number variation1nstd102humanPathogenic GRCh37 chr5: 149,294,486-149,294,590 , GRCh38.p12 chr5: 149,914,923-149,915,027 PDE6A
    nsv5673515copy number variation1nstd102humanPathogenic GRCh37 chr5: 149,294,506-149,294,570 , GRCh38.p12 chr5: 149,914,943-149,915,007 PDE6A
    nsv6312094copy number variation1nstd102humanLikely pathogenic GRCh37 chr5: 149,262,972-149,279,107 , GRCh38.p12 chr5: 149,883,409-149,899,544 PDE6A
    nsv6312095copy number variation1nstd102humanUncertain significance GRCh37 chr5: 149,277,906-149,301,292 , GRCh38.p12 chr5: 149,898,343-149,921,729 PDE6A
    nsv7097515copy number variation1nstd102humanUncertain significance GRCh37 chr5: 149,278,079-149,280,940 , GRCh38.p12 chr5: 149,898,516-149,901,377 PDE6A
    nsv7096759copy number variation1nstd102humanUncertain significance GRCh37 chr5: 149,301,178-149,301,292 , GRCh38.p12 chr5: 149,921,615-149,921,729 PDE6A
    nsv5564349copy number variation1nstd102humanUncertain significance GRCh37 chr5: 149,240,458-149,265,957 , GRCh38.p12 chr5: 149,860,895-149,886,394 PDE6A
    nsv4683663copy number variation1nstd102humanUncertain significance GRCh37 chr5: 149,240,458-149,265,937 , GRCh38.p12 chr5: 149,860,895-149,886,374 PDE6A
    nsv6312282copy number variation1nstd102humanUncertain significance GRCh37 chr5: 149,240,458-149,240,554 , GRCh38.p12 chr5: 149,860,895-149,860,991 PDE6A
    nsv3880726copy number variation1nstd102humanBenign GRCh37 chr5: 149,231,519-149,269,809 , GRCh38.p12 chr5: 149,851,956-149,890,246 PDE6A, PPARGC1B
    nsv4457174copy number variation1nstd102humanUncertain significance GRCh37 chr5: 149,170,485-149,240,083 , GRCh38.p12 chr5: 149,790,922-149,860,520 PDE6A, PPARGC1B
    nsv3889848copy number variation1nstd102humanPathogenic GRCh37 chr5: 17,628,741-176,575,720 , GRCh38.p12 chr5: 17,628,632-177,148,719 PDE6A, MEGF10, 2080 more genes
    nsv3884357copy number variation2nstd102humanPathogenic GRCh37 chr5: 86,400,000-154,000,000 , GRCh38.p12 chr5: 87,104,183-154,620,440 PDE6A, TXNDC15, 962 more genes
    nsv3912937copy number variation1nstd102humanPathogenic GRCh37 chr5: 105,955,289-155,551,397 , NCBI36 chr5: 105,983,188-155,483,975 , GRCh38 chr5: 106,619,588-156,124,387 PDE6A, LINC01023, 783 more genes
    nsv6636986copy number variation1nstd102humanPathogenic GRCh37 chr5: 147,164,969-149,315,489 , GRCh38.p12 chr5: 147,785,406-149,935,926 PDE6A, GRPEL2-AS1, 43 more genes
    nsv3886374copy number variation1nstd102humanPathogenic GRCh37 chr5: 13,648-180,905,029 , GRCh38.p12 chr5: 13,648-181,478,028 PDE6A, LOC105374618, 2499 more genes
    nsv3871533copy number variation1nstd102humanPathogenic GRCh37 chr5: 25,328-180,693,344 , GRCh38.p12 chr5: 25,329-181,266,343 PDE6A, PCDHGC5, 2492 more genes
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