MED13L

mediator complex subunit 13L

Summary

The protein encoded by this gene is a subunit of the Mediator complex, a large complex of proteins that functions as a transcriptional coactivator for most RNA polymerase II-transcribed genes. The encoded protein is involved in early development of the heart and brain. Defects in this gene are a cause of transposition of the great arteries, dextro-looped (DTGA).[provided by RefSeq, Jul 2010]

Known Variants1,072 total

rsidPosition (GRCh37)AllelesClassClinVar
rs18217243712:116,398,786A/G—likely benign
rs19967229512:116,399,060T/C—benign
rs249994069012:116,399,078A/G—uncertain significance
rs78107917112:116,399,088T/C—conflicting classifications of pathogenicity
rs147901484712:116,399,112C/G—uncertain significance
rs213718206112:116,399,121G/A—likely pathogenic
rs95674643612:116,399,122G/A—likely benign
rs37761123412:116,399,124C/T—benign
rs14856474612:116,399,125G/A—benign
rs213718211912:116,399,127G/T—uncertain significance
rs116107693212:116,399,135G/C—uncertain significance
rs249994094012:116,399,142G/A—uncertain significance
rs155523955512:116,399,148G/A—likely pathogenic
rs187574251312:116,399,150G/T—uncertain significance
rs76828859412:116,399,155C/T—likely benign
rs15112457512:116,399,156G/A—uncertain significance
rs76292616612:116,399,159T/C—benign
rs37124097412:116,399,164C/T—likely benign
rs187574408212:116,399,165G/A—uncertain significance
rs37069231912:116,399,182G/A—likely benign
rs249994113112:116,399,195A/C—likely pathogenic
rs213718238412:116,399,212G/C—likely benign
rs96657981312:116,399,221C/G—likely benign
rs730843712:116,400,183A/T——
rs249994739812:116,401,194G/A—likely benign
rs156598113712:116,401,224G/A—pathogenic
rs76349352312:116,401,226C/T—likely benign
rs86931270712:116,401,227G/Amissense variantpathogenic
rs75504466112:116,401,258G/A—uncertain significance
rs144810899512:116,401,271G/C—benign
rs118547127312:116,401,277C/A—likely benign
rs155523993612:116,401,294G/A—pathogenic
rs187591579212:116,401,320G/A—uncertain significance
rs159289100712:116,401,326T/C—pathogenic
rs36777859412:116,401,328G/A—conflicting classifications of pathogenicity
rs131264951712:116,401,337C/T—likely benign
rs76443190712:116,403,867T/C—likely benign
rs249995600112:116,403,883C/G—benign
rs187613929612:116,403,906T/C—uncertain significance
rs187613949712:116,403,907G/A—pathogenic
rs156598259312:116,403,918T/C—uncertain significance
rs308826012:116,403,920G/A—benign
rs76987413512:116,403,926C/T—likely benign
rs77443206012:116,403,927G/A—uncertain significance
rs155524035912:116,403,938C/T—pathogenic
rs249995616812:116,403,939C/T—pathogenic
rs155524036112:116,403,943G/A—pathogenic
rs249995620912:116,403,945G/A—uncertain significance
rs125883528712:116,403,956A/G—likely benign
rs117760861112:116,403,963G/A—conflicting classifications of pathogenicity
rs101917838012:116,403,964C/A—uncertain significance
rs137983846712:116,403,971T/C—likely benign
rs74773436912:116,403,973C/T—uncertain significance
rs155524037612:116,403,994G/T—pathogenic
rs14034023912:116,403,995C/T—likely benign
rs249995637112:116,403,997G/A—pathogenic
rs187614734912:116,404,000G/C—conflicting classifications of pathogenicity
rs213720323912:116,404,029A/T—uncertain significance
rs213720332812:116,404,046G/T—uncertain significance
rs187615028912:116,404,049C/G—pathogenic
rs14680341712:116,406,725G/A—benign
rs249996429912:116,406,781A/T—likely benign
rs141357236712:116,406,786G/A—uncertain significance
rs37351864012:116,406,814G/A—benign
rs76648737212:116,406,815T/G—uncertain significance
rs213721669712:116,406,819G/A—uncertain significance
rs100241979312:116,406,831G/C—uncertain significance
rs187639193912:116,406,832G/A—likely benign
rs54120695912:116,406,862G/A—benign
rs187639349012:116,406,891C/A—uncertain significance
rs12191833312:116,406,902T/Cmissense variantuncertain significance
rs6193693912:116,406,910G/A—likely benign
rs75218160512:116,406,915G/C—likely benign
rs37092550512:116,406,919A/G—likely benign
rs134486312:116,408,257A/T—benign
rs76625499412:116,408,383C/T—likely benign
rs75951911012:116,408,392T/A—likely benign
rs249996947912:116,408,394C/T—uncertain significance
rs37062747412:116,408,406G/A—likely benign
rs249996951512:116,408,409G/A—likely benign
rs138771284112:116,408,429G/C—likely benign
rs187651834112:116,408,453T/A—uncertain significance
rs249996965212:116,408,456T/C—uncertain significance
rs249996965712:116,408,458G/A—uncertain significance
rs127259494412:116,408,480T/C—uncertain significance
rs136608366412:116,408,481G/A—likely benign
rs213722352112:116,408,488C/T—uncertain significance
rs249996972712:116,408,493A/C—likely benign
rs249996973012:116,408,494G/A—uncertain significance
rs155524116612:116,408,501G/A—likely pathogenic
rs78050478512:116,408,509T/C—uncertain significance
rs11383091312:116,408,511G/A—likely benign
rs213722360912:116,408,513G/C—uncertain significance
rs213722363012:116,408,515T/C—uncertain significance
rs187652223212:116,408,516G/A—likely pathogenic
rs75534955012:116,408,517A/G—likely benign
rs13858012312:116,408,520T/C—likely benign
rs124509331812:116,408,523C/G—uncertain significance
rs213722372312:116,408,525G/A—pathogenic
rs187652372412:116,408,527A/T—uncertain significance

Showing 100 of 1,072 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.