NRL

neural retina leucine zipper

Summary

This gene encodes a basic motif-leucine zipper transcription factor of the Maf subfamily. The encoded protein is conserved among vertebrates and is a critical intrinsic regulator of photoceptor development and function. Mutations in this gene have been associated with retinitis pigmentosa and retinal degenerative diseases. [provided by RefSeq, Jul 2008]

Known Variants173 total

rsidPosition (GRCh37)AllelesClassClinVar
rs11311976814:24,549,318A/G—uncertain significance
rs7728444614:24,549,327C/T—benign
rs76723693214:24,549,402C/T—uncertain significance
rs18423512214:24,549,510G/A—uncertain significance
rs90615495014:24,549,581C/T—uncertain significance
rs105171814:24,549,611C/G—benign
rs56075592414:24,549,632C/T—uncertain significance
rs88605042614:24,549,665C/G—uncertain significance
rs76269484514:24,549,667G/A—uncertain significance
rs203624932914:24,549,772G/T—uncertain significance
rs55511036214:24,549,778G/A—benign
rs11432795214:24,549,887G/A—benign
rs88605042714:24,549,965T/C—uncertain significance
rs55533081514:24,549,973G/A—likely benign
rs101900272114:24,550,144T/A—uncertain significance
rs356114:24,550,224T/C—benign
rs7948950314:24,550,232G/T—likely benign
rs54075140014:24,550,272T/A—benign
rs356014:24,550,332G/T—likely benign
rs55270991714:24,550,337G/A—likely benign
rs88605042814:24,550,389C/T—uncertain significance
rs75413652714:24,550,446C/A—uncertain significance
rs203627230314:24,550,447A/G—uncertain significance
rs800905114:24,550,448G/A—likely benign
rs143431775414:24,550,450G/A—uncertain significance
rs77905846414:24,550,451G/A—likely benign
rs20135856314:24,550,456G/A—benign
rs203627309914:24,550,463G/A—likely benign
rs95090740514:24,550,466G/C—uncertain significance
rs75499662614:24,550,468C/T—uncertain significance
rs78095710114:24,550,472G/T—likely benign
rs213886856714:24,550,475C/T—likely benign
rs128105554014:24,550,482C/A—uncertain significance
rs76941083614:24,550,484G/A—likely benign
rs125387939614:24,550,488G/C—uncertain significance
rs101525163614:24,550,507G/A—uncertain significance
rs93614019614:24,550,514G/A—conflicting classifications of pathogenicity
rs131067912814:24,550,524C/T—uncertain significance
rs139236818614:24,550,531G/C—uncertain significance
rs74899969914:24,550,539C/T—uncertain significance
rs203627988114:24,550,540G/A—likely pathogenic
rs250251175214:24,550,542G/T—uncertain significance
rs203628005814:24,550,543C/T—uncertain significance
rs97651047814:24,550,552C/T—uncertain significance
rs135011648214:24,550,555G/T—likely pathogenic
rs213886911314:24,550,560G/T—uncertain significance
rs91346865414:24,550,562G/C—uncertain significance
rs118259865414:24,550,570G/A—pathogenic
rs77392439614:24,550,574G/C—likely benign
rs203628362514:24,550,581C/T—uncertain significance
rs250251285514:24,550,594C/T—uncertain significance
rs3598410614:24,550,600G/T—uncertain significance
rs145517284214:24,550,603C/T—uncertain significance
rs203628679614:24,550,609G/C—uncertain significance
rs117329503814:24,550,610C/T—likely benign
rs90181130114:24,550,615G/A—conflicting classifications of pathogenicity
rs250251360714:24,550,624T/G—uncertain significance
rs203628896514:24,550,632C/T—uncertain significance
rs105047799414:24,550,638T/C—uncertain significance
rs250251390714:24,550,641G/A—uncertain significance
rs76817840614:24,550,643G/T—pathogenic
rs203629023214:24,550,644T/A—uncertain significance
rs93241406914:24,550,645A/T—uncertain significance
rs130060416314:24,550,662G/A—uncertain significance
rs213886989914:24,550,663T/A—uncertain significance
rs213886991214:24,550,665C/G—uncertain significance
rs250251450814:24,550,668C/A—uncertain significance
rs76107413014:24,550,671C/T—uncertain significance
rs250251464714:24,550,676C/T—likely benign
rs10489446314:24,550,680A/Gmissense variantpathogenic
rs146972694214:24,550,683C/T—uncertain significance
rs76458740114:24,550,685C/T—likely benign
rs203629401314:24,550,690C/A—uncertain significance
rs250251495914:24,550,692T/C—uncertain significance
rs75751898014:24,550,697G/A—likely benign
rs76522205914:24,550,698C/T—uncertain significance
rs75057884514:24,550,709C/G—benign
rs20119798414:24,550,718C/T—likely benign
rs74810318814:24,550,720G/A—uncertain significance
rs57684164914:24,550,734A/G—uncertain significance
rs213887049714:24,550,739C/T—uncertain significance
rs118772256414:24,550,741T/G—uncertain significance
rs37361208014:24,550,742C/T—likely benign
rs213887054814:24,550,743G/C—uncertain significance
rs147725697614:24,550,746A/G—uncertain significance
rs203630047414:24,550,747C/G—uncertain significance
rs53913639714:24,550,751C/A—likely benign
rs37507531214:24,550,752G/A—uncertain significance
rs18914142314:24,550,757G/A—benign
rs19959017114:24,550,760G/A—likely benign
rs99492635114:24,550,767C/G—uncertain significance
rs76127063414:24,550,776A/G—uncertain significance
rs147133385114:24,550,779T/C—uncertain significance
rs141555710614:24,550,782G/T—uncertain significance
rs37601418514:24,550,787G/A—likely benign
rs131196082414:24,550,793G/A—likely benign
rs77711645614:24,550,794C/G—likely benign
rs77007393914:24,551,657C/G—likely benign
rs136547437114:24,551,672C/A—uncertain significance
rs250252391214:24,551,676C/T—pathogenic

Showing 100 of 173 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.