SDCCAG8

SHH signaling and ciliogenesis regulator SDCCAG8

Summary

This gene encodes a centrosome associated protein. This protein may be involved in organizing the centrosome during interphase and mitosis. Mutations in this gene are associated with retinal-renal ciliopathy. [provided by RefSeq, Oct 2010]

Known Variants536 total

rsidPosition (GRCh37)AllelesClassClinVar
rs8860463271:243,419,345T/C—uncertain significance
rs5477761911:243,419,346C/A—uncertain significance
rs7683187661:243,419,355C/T—uncertain significance
rs8860463281:243,419,370G/T—uncertain significance
rs8860463291:243,419,378C/T—uncertain significance
rs39046821:243,419,429A/T—benign
rs1131931581:243,419,472G/A—likely benign
rs7567296031:243,419,486C/G—uncertain significance
rs5770332591:243,419,487C/G—likely benign
rs7473635921:243,419,489C/T—uncertain significance
rs9227917381:243,419,490G/T—likely benign
rs12017442291:243,419,491G/C—uncertain significance
rs11933900131:243,419,497T/C—uncertain significance
rs7699861191:243,419,503C/T—likely benign
rs7734429251:243,419,506G/C—uncertain significance
rs7631721231:243,419,512A/T—uncertain significance
rs25477977291:243,419,518G/A—uncertain significance
rs12704126131:243,419,521C/T—pathogenic
rs9350259691:243,419,522A/G—uncertain significance
rs13986027611:243,419,523G/T—uncertain significance
rs7639919531:243,419,538C/T—likely benign
rs7537702671:243,419,539C/T—uncertain significance
rs7646686761:243,419,541G/T—uncertain significance
rs7499403641:243,419,552T/C—likely benign
rs13119851401:243,419,559C/G—likely benign
rs11966150591:243,419,560T/G—likely benign
rs5621370551:243,419,562T/C—likely benign
rs618339061:243,419,706T/C—benign
rs75351621:243,425,689T/Gdownstream gene variant—
rs2000547761:243,433,387T/C—likely benign
rs7764223821:243,433,388C/T—likely benign
rs3730209261:243,433,389G/A—likely benign
rs20679672361:243,433,407A/G—uncertain significance
rs25478279861:243,433,410A/G—uncertain significance
rs11793857211:243,433,415A/G—uncertain significance
rs21492629961:243,433,422G/A—uncertain significance
rs12804379251:243,433,432A/G—likely benign
rs1509534301:243,433,438A/G—likely benign
rs7816380351:243,433,442G/T—uncertain significance
rs7566428761:243,433,454G/A—uncertain significance
rs7784050681:243,433,456C/A—uncertain significance
rs2021146361:243,433,457G/A—uncertain significance
rs20679722411:243,433,461T/C—uncertain significance
rs25478281841:243,433,463A/G—uncertain significance
rs20679728921:243,433,475G/C—uncertain significance
rs21492630761:243,433,477T/C—likely benign
rs20679739321:243,433,491C/T—uncertain significance
rs7616165281:243,433,499A/T—uncertain significance
rs11616081031:243,433,507G/A—likely benign
rs20679751571:243,433,508G/A—uncertain significance
rs3773585931:243,433,519C/T—likely benign
rs1499284021:243,433,520G/T—uncertain significance
rs14666207871:243,433,521C/A—uncertain significance
rs11711249791:243,433,529G/A—uncertain significance
rs5733362521:243,433,530C/T—uncertain significance
rs2017150981:243,433,537C/T—likely benign
rs7565180041:243,433,538G/T—pathogenic
rs2009943631:243,433,546A/G—likely benign
rs20679783721:243,433,548A/C—uncertain significance
rs21492631601:243,433,555T/C—likely benign
rs7577963291:243,433,561T/C—conflicting classifications of pathogenicity
rs3703614911:243,433,562G/A—uncertain significance
rs7459907131:243,433,566G/A—likely benign
rs7722317251:243,433,576A/G—conflicting classifications of pathogenicity
rs2000138621:243,433,579C/T—likely benign
rs22751541:243,433,654A/G—benign
rs7671800041:243,434,267T/C—likely benign
rs25478301521:243,434,270T/C—likely benign
rs3735260731:243,434,276A/G—likely benign
rs7970459461:243,434,278A/G—pathogenic
rs20680366021:243,434,279G/A—likely pathogenic
rs7509776821:243,434,292A/G—uncertain significance
rs1464745681:243,434,296T/A—conflicting classifications of pathogenicity
rs1434475841:243,434,303C/T—uncertain significance
rs5773453571:243,434,304G/A—uncertain significance
rs2016585931:243,434,309C/T—pathogenic
rs20680389541:243,434,314A/G—likely benign
rs21492640261:243,434,316A/T—uncertain significance
rs7706851161:243,434,322A/G—uncertain significance
rs25478302601:243,434,323A/G—likely benign
rs1488184311:243,434,326T/C—conflicting classifications of pathogenicity
rs12843698121:243,434,336C/T—uncertain significance
rs1404132561:243,434,337C/T—conflicting classifications of pathogenicity
rs1458772791:243,434,338G/A—likely benign
rs7768103751:243,434,339T/A—uncertain significance
rs3775645871:243,434,342A/G—uncertain significance
rs7551098621:243,434,373T/C—likely benign
rs7814568661:243,434,376A/G—conflicting classifications of pathogenicity
rs25478304101:243,434,377C/T—likely benign
rs20680444911:243,434,382C/T—likely benign
rs127554521:243,434,927C/A——
rs39268661:243,437,632G/C—benign
rs3711484931:243,437,835T/A—likely benign
rs21492686211:243,437,840C/T—conflicting classifications of pathogenicity
rs5576565071:243,437,841A/G—likely benign
rs9010280301:243,437,842T/C—uncertain significance
rs14608887691:243,437,844G/A—likely pathogenic
rs14011454351:243,437,847G/T—uncertain significance
rs7596346301:243,437,869A/G—uncertain significance
rs7675635201:243,437,874G/A—uncertain significance

Showing 100 of 536 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.