SUFU

SUFU negative regulator of hedgehog signaling

Summary

The Hedgehog signaling pathway plays an important role in early human development. The pathway is a signaling cascade that plays a role in pattern formation and cellular proliferation during development. This gene encodes a negative regulator of the hedgehog signaling pathway. Defects in this gene are a cause of medulloblastoma. Alternative splicing results in multiple transcript variants.[provided by RefSeq, May 2010]

Known Variants1,120 total

rsidPosition (GRCh37)AllelesClassClinVar
rs37358655910:104,263,582C/A—likely benign
rs7333665710:104,263,624T/G—benign
rs18631461410:104,263,630G/A—likely benign
rs381847010:104,263,675T/C—benign
rs122224200310:104,263,708C/T—uncertain significance
rs158996936310:104,263,721C/T—uncertain significance
rs86720282610:104,263,729A/G—uncertain significance
rs11396260010:104,263,732C/T—benign
rs88604665210:104,263,747A/G—uncertain significance
rs88604665310:104,263,807C/A—uncertain significance
rs54610738110:104,263,829C/A—uncertain significance
rs20164955910:104,263,877C/T—likely benign
rs158996970110:104,263,907C/T—uncertain significance
rs138057342910:104,263,908C/G—uncertain significance
rs254482966910:104,263,911T/A—likely pathogenic
rs158996971910:104,263,914C/T—uncertain significance
rs74655529610:104,263,915G/T—conflicting classifications of pathogenicity
rs75709738810:104,263,917A/G—uncertain significance
rs56165142710:104,263,918G/A—likely benign
rs129752546810:104,263,920T/G—uncertain significance
rs18923414010:104,263,921G/A—likely benign
rs94835397910:104,263,922C/T—uncertain significance
rs206228840210:104,263,924G/A—likely benign
rs206228846710:104,263,925C/T—uncertain significance
rs213559713410:104,263,926C/G—uncertain significance
rs254482983710:104,263,927T/G—likely benign
rs206228851010:104,263,928A/G—conflicting classifications of pathogenicity
rs213559716710:104,263,930C/A—uncertain significance
rs76969673710:104,263,931G/T—uncertain significance
rs129194185610:104,263,933C/T—likely benign
rs77549137410:104,263,935C/T—conflicting classifications of pathogenicity
rs124416736410:104,263,936C/A—conflicting classifications of pathogenicity
rs97593623010:104,263,937C/T—uncertain significance
rs131527767910:104,263,939C/T—likely benign
rs132280765810:104,263,940G/C—conflicting classifications of pathogenicity
rs122737929310:104,263,941G/A—uncertain significance
rs1278056610:104,263,942C/T—likely benign
rs254483009710:104,263,943C/A—uncertain significance
rs254483010710:104,263,944C/A—uncertain significance
rs156465436510:104,263,945C/G—likely benign
rs145604832210:104,263,946A/C—conflicting classifications of pathogenicity
rs76893516510:104,263,947C/T—uncertain significance
rs206228946210:104,263,948C/T—likely benign
rs146060638110:104,263,949G/A—uncertain significance
rs117982980410:104,263,951G/A—likely benign
rs76192168110:104,263,952C/A—uncertain significance
rs76754322710:104,263,954C/T—conflicting classifications of pathogenicity
rs97831292510:104,263,955C/A—uncertain significance
rs169015270510:104,263,956C/T—uncertain significance
rs146723839510:104,263,957G/T—likely benign
rs133214345610:104,263,958G/C—uncertain significance
rs1278058010:104,263,959C/T—conflicting classifications of pathogenicity
rs145076422410:104,263,960C/T—likely benign
rs158996989610:104,263,961C/A—uncertain significance
rs148944336910:104,263,962C/G—uncertain significance
rs145318607910:104,263,963T/C—likely benign
rs120769789010:104,263,964G/A—uncertain significance
rs158996991310:104,263,965G/A—uncertain significance
rs213559770210:104,263,966C/A—likely benign
rs93637917010:104,263,967C/G—uncertain significance
rs254483055110:104,263,968C/G—uncertain significance
rs158996992610:104,263,969G/T—likely benign
rs254483061510:104,263,971C/T—uncertain significance
rs158996993110:104,263,972T/C—likely benign
rs156465442210:104,263,973G/C—uncertain significance
rs76124010610:104,263,974C/G—conflicting classifications of pathogenicity
rs126549696610:104,263,975C/A—likely benign
rs76666652910:104,263,976C/T—conflicting classifications of pathogenicity
rs206229097210:104,263,977C/T—conflicting classifications of pathogenicity
rs132068867110:104,263,978C/T—likely benign
rs121987081710:104,263,979C/G—uncertain significance
rs75421859710:104,263,980C/A—uncertain significance
rs132234497010:104,263,981G/A—likely benign
rs213559790110:104,263,982G/A—uncertain significance
rs206229132310:104,263,983C/T—uncertain significance
rs158997001610:104,263,985T/A—uncertain significance
rs213559795410:104,263,987C/T—likely benign
rs206229153710:104,263,988G/A—uncertain significance
rs166485738010:104,263,989C/T—uncertain significance
rs254483088210:104,263,990T/C—likely benign
rs254483089210:104,263,991T/G—uncertain significance
rs75800117010:104,263,992C/T—uncertain significance
rs37675246810:104,263,993G/T—likely benign
rs206229177310:104,263,995T/G—uncertain significance
rs213559802710:104,263,996C/T—likely benign
rs158997003510:104,263,999T/C—likely benign
rs155484083610:104,264,000C/G—uncertain significance
rs213559808910:104,264,001C/T—uncertain significance
rs213559810710:104,264,004C/T—uncertain significance
rs148343574610:104,264,005G/C—likely benign
rs139178704110:104,264,007G/C—uncertain significance
rs213559816710:104,264,011G/A—likely benign
rs213559818010:104,264,012C/T—uncertain significance
rs206229202310:104,264,013A/G—uncertain significance
rs75676679410:104,264,014C/T—likely benign
rs213559821010:104,264,015G/A—uncertain significance
rs56671472010:104,264,016C/T—uncertain significance
rs254483122910:104,264,017C/T—likely benign
rs74579351710:104,264,018A/G—conflicting classifications of pathogenicity
rs254483125410:104,264,019T/A—uncertain significance

Showing 100 of 1,120 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.