RET

ret proto-oncogene

Summary

This gene encodes a transmembrane receptor and member of the tyrosine protein kinase family of proteins. Binding of ligands such as GDNF (glial cell-line derived neurotrophic factor) and other related proteins to the encoded receptor stimulates receptor dimerization and activation of downstream signaling pathways that play a role in cell differentiation, growth, migration and survival. The encoded receptor is important in development of the nervous system, and the development of organs and tissues derived from the neural crest. This proto-oncogene can undergo oncogenic activation through both cytogenetic rearrangement and activating point mutations. Mutations in this gene are associated with Hirschsprung disease and central hypoventilation syndrome and have been identified in patients with renal agenesis. [provided by RefSeq, Sep 2017]

Known Variants2,602 total

rsidPosition (GRCh37)AllelesClassClinVar
rs250599810:43,570,925A/T——
rs309756110:43,572,180C/A—likely benign
rs11554955810:43,572,296G/A—benign
rs52883501510:43,572,426C/T—likely benign
rs54092647410:43,572,481C/T—likely benign
rs1090029610:43,572,507A/G—benign
rs1090029710:43,572,511C/A—likely benign
rs88604698310:43,572,520C/A—uncertain significance
rs135975582610:43,572,534A/G—uncertain significance
rs56711219510:43,572,547G/T—likely benign
rs88604698410:43,572,549G/A—uncertain significance
rs88604698510:43,572,575G/T—conflicting classifications of pathogenicity
rs312872510:43,572,639C/T—benign
rs76538464010:43,572,656C/T—uncertain significance
rs75100561910:43,572,670G/C—conflicting classifications of pathogenicity
rs95419929310:43,572,684C/T—uncertain significance
rs126122809510:43,572,701C/T—uncertain significance
rs127271376810:43,572,702G/C—uncertain significance
rs145663944110:43,572,703G/A—uncertain significance
rs98560101710:43,572,704G/A—uncertain significance
rs87665798010:43,572,705C/A—conflicting classifications of pathogenicity
rs213249710810:43,572,706G/A—uncertain significance
rs183706363510:43,572,711C/A—uncertain significance
rs124388348910:43,572,712G/A—likely benign
rs156448082710:43,572,713A/G—uncertain significance
rs183706378510:43,572,716G/A—uncertain significance
rs183706387610:43,572,717C/T—uncertain significance
rs213249746110:43,572,719A/G—uncertain significance
rs144409630210:43,572,720C/G—uncertain significance
rs122649920810:43,572,721G/C—conflicting classifications of pathogenicity
rs158884847510:43,572,722T/G—conflicting classifications of pathogenicity
rs118543135610:43,572,724C/T—conflicting classifications of pathogenicity
rs125766171810:43,572,725G/A—uncertain significance
rs136668112510:43,572,726G/A—conflicting classifications of pathogenicity
rs213249773510:43,572,727T/C—likely benign
rs147632585110:43,572,728G/T—uncertain significance
rs116833494910:43,572,729C/T—uncertain significance
rs213249783710:43,572,730C/T—likely benign
rs213249787110:43,572,731G/T—uncertain significance
rs183706482710:43,572,733G/A—likely benign
rs213249796010:43,572,734G/A—uncertain significance
rs130381250710:43,572,735G/T—uncertain significance
rs105024286810:43,572,736G/A—conflicting classifications of pathogenicity
rs58778081210:43,572,737C/G—uncertain significance
rs213249823210:43,572,740C/G—uncertain significance
rs213249827710:43,572,741G/A—uncertain significance
rs140628321010:43,572,745G/A—likely benign
rs213249840610:43,572,747T/C—uncertain significance
rs141874692510:43,572,749T/C—likely benign
rs213249854110:43,572,750T/C—uncertain significance
rs87666015710:43,572,751G/A—likely benign
rs130989692910:43,572,752C/G—uncertain significance
rs156448089310:43,572,753T/A—uncertain significance
rs183706674110:43,572,754G/A—likely benign
rs132875694010:43,572,755C/A—uncertain significance
rs183706696410:43,572,756T/C—uncertain significance
rs127016314510:43,572,757G/A—likely benign
rs213249892610:43,572,758C/T—likely benign
rs213249895710:43,572,759T/C—uncertain significance
rs122875471110:43,572,760G/A—likely benign
rs213249902410:43,572,761C/A—uncertain significance
rs213249905510:43,572,762T/C—uncertain significance
rs131642920310:43,572,763G/C—likely benign
rs120590465310:43,572,764C/T—uncertain significance
rs183706769710:43,572,765C/A—uncertain significance
rs126399182210:43,572,766G/C—likely benign
rs213249928810:43,572,767C/T—likely benign
rs94433366010:43,572,769G/A—likely benign
rs119882734710:43,572,773G/C—uncertain significance
rs155481554610:43,572,774G/A—uncertain significance
rs213249946910:43,572,775C/T—uncertain significance
rs126392303810:43,572,776A/G—likely benign
rs144870598510:43,572,778A/G—likely benign
rs249193725210:43,572,782G/A—uncertain significance
rs119380561110:43,572,787C/G—likely benign
rs104120484910:43,572,788T/G—likely benign
rs105270345510:43,572,789G/C—likely benign
rs147672697110:43,572,790C/T—likely benign
rs213249969310:43,572,791C/A—likely benign
rs117827367710:43,572,792G/T—likely benign
rs213249973710:43,572,793G/A—likely benign
rs119330796210:43,572,794C/T—likely benign
rs183706897810:43,572,795C/A—likely benign
rs76332719510:43,572,796G/T—likely benign
rs89744559310:43,572,797C/T—likely benign
rs131303723510:43,572,798C/G—likely benign
rs1226746010:43,572,832G/A—benign
rs11151435710:43,572,883C/T—likely benign
rs1224685610:43,572,951A/C—benign
rs86659103710:43,572,967G/A—likely benign
rs186441010:43,575,625T/Gregulatory region variant—
rs7326619710:43,581,968C/T—likely benign
rs250600510:43,581,980C/T—benign
rs243535710:43,582,056T/Cintron variantrisk factor
rs53763850410:43,582,057G/A—likely benign
rs7326620110:43,582,110A/G—benign
rs95123349110:43,582,169C/T—likely benign
rs74965557210:43,582,177G/A—likely benign
rs116554775710:43,582,184G/A—likely benign
rs96340221810:43,582,187A/G—likely benign

Showing 100 of 2,602 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.