RBM20

RNA binding motif protein 20

Summary

This gene encodes a protein that binds RNA and regulates splicing. Mutations in this gene have been associated with familial dilated cardiomyopathy. [provided by RefSeq, Apr 2014]

Known Variants1,520 total

rsidPosition (GRCh37)AllelesClassClinVar
rs7264132510:112,403,810A/C—benign
rs53503280610:112,403,974G/A—likely benign
rs1278385910:112,404,093T/C—benign
rs119238829110:112,404,182T/C—uncertain significance
rs105752157810:112,404,194C/T—likely benign
rs87665797510:112,404,197G/T—uncertain significance
rs135350518110:112,404,205C/T—likely benign
rs39751658910:112,404,207C/T—likely benign
rs146718534910:112,404,211G/T—uncertain significance
rs75246026010:112,404,212C/T—uncertain significance
rs213479247110:112,404,216G/T—uncertain significance
rs99617200410:112,404,217T/C—uncertain significance
rs99305929310:112,404,219C/T—likely benign
rs148874627210:112,404,226C/T—conflicting classifications of pathogenicity
rs126717510110:112,404,227A/T—likely benign
rs75877205010:112,404,228G/A—uncertain significance
rs159059085110:112,404,231A/T—uncertain significance
rs102720324910:112,404,232T/C—uncertain significance
rs186183693610:112,404,237C/T—conflicting classifications of pathogenicity
rs115717796010:112,404,239G/C—conflicting classifications of pathogenicity
rs79472689510:112,404,244C/T—uncertain significance
rs88727645810:112,404,247A/T—uncertain significance
rs57342678310:112,404,248C/A—conflicting classifications of pathogenicity
rs54104358310:112,404,254C/G—conflicting classifications of pathogenicity
rs55904095710:112,404,255G/A—uncertain significance
rs213479258310:112,404,260G/C—likely benign
rs144372798310:112,404,262A/T—uncertain significance
rs96047464010:112,404,264C/A—conflicting classifications of pathogenicity
rs135343669810:112,404,267C/A—likely benign
rs72750476610:112,404,268C/G—uncertain significance
rs78126378710:112,404,269G/T—conflicting classifications of pathogenicity
rs92569336810:112,404,280C/T—uncertain significance
rs186183818510:112,404,281C/T—likely benign
rs137162499610:112,404,282T/C—uncertain significance
rs213479265710:112,404,284C/T—likely benign
rs213479266610:112,404,287T/C—likely benign
rs121610106810:112,404,292C/A—uncertain significance
rs93572620910:112,404,293T/C—likely benign
rs146678750610:112,404,295G/A—conflicting classifications of pathogenicity
rs137731735010:112,404,300C/G—uncertain significance
rs3514140410:112,404,302G/A—benign
rs249319240110:112,404,310C/G—uncertain significance
rs92106696110:112,404,311G/C—conflicting classifications of pathogenicity
rs77566773310:112,404,315C/A—likely benign
rs213479279010:112,404,316C/G—uncertain significance
rs146314551210:112,404,317C/T—likely benign
rs57101319810:112,404,326G/T—likely benign
rs128159318110:112,404,327C/T—pathogenic
rs78036735310:112,404,328G/A—conflicting classifications of pathogenicity
rs122397010810:112,404,329A/G—likely benign
rs186183985810:112,404,330G/C—uncertain significance
rs213479287910:112,404,331G/C—uncertain significance
rs249319252910:112,404,332G/T—uncertain significance
rs249319253510:112,404,333A/T—uncertain significance
rs186183988910:112,404,334T/A—uncertain significance
rs249319255310:112,404,336C/T—uncertain significance
rs186184002810:112,404,337A/G—uncertain significance
rs92518715110:112,404,338G/A—likely benign
rs186184010510:112,404,339C/T—pathogenic
rs88604669810:112,404,340A/C—uncertain significance
rs249319261410:112,404,342C/A—uncertain significance
rs56350071210:112,404,343C/G—uncertain significance
rs103633380410:112,404,346C/T—conflicting classifications of pathogenicity
rs156480419910:112,404,347G/C—likely benign
rs155488657410:112,404,348C/T—uncertain significance
rs186184080110:112,404,349C/A—uncertain significance
rs213479305110:112,404,350G/C—likely benign
rs143712375610:112,404,353G/C—likely benign
rs91237453310:112,404,357C/G—conflicting classifications of pathogenicity
rs155488657810:112,404,358A/C—likely benign
rs213479312510:112,404,359G/A—likely benign
rs37693628510:112,404,362A/T—likely benign
rs186184153010:112,404,363C/T—uncertain significance
rs76060511810:112,404,365G/T—likely benign
rs213479320410:112,404,366C/A—uncertain significance
rs186184166810:112,404,367C/T—uncertain significance
rs186184186810:112,404,371G/C—likely benign
rs186184193810:112,404,372C/G—uncertain significance
rs147631536410:112,404,374C/T—likely benign
rs117344044310:112,404,376A/C—uncertain significance
rs249319282210:112,404,377A/C—uncertain significance
rs116565765310:112,404,378G/A—uncertain significance
rs142413099910:112,404,380C/T—likely benign
rs139589878810:112,404,381G/A—benign
rs249319284610:112,404,382G/A—uncertain significance
rs249319285310:112,404,384C/T—likely benign
rs103973288610:112,404,386A/G—likely benign
rs140866054010:112,404,393A/G—uncertain significance
rs249319288410:112,404,395C/T—likely benign
rs249319289010:112,404,396A/G—uncertain significance
rs213479336410:112,404,398C/A—likely benign
rs156480423510:112,404,400A/G—uncertain significance
rs213479339110:112,404,410A/C—likely benign
rs11403300610:112,404,509C/T—benign
rs708219510:112,427,449C/A——
rs1119526010:112,429,050G/Aintron variant—
rs1088501110:112,430,578A/C——
rs1088503110:112,498,330C/T—benign
rs7415813210:112,540,259G/A—likely benign
rs11462203010:112,540,528G/A—benign

Showing 100 of 1,520 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.