MTMR2

myotubularin related protein 2

Summary

This gene is a member of the myotubularin family of phosphoinositide lipid phosphatases. The encoded protein possesses phosphatase activity towards phosphatidylinositol-3-phosphate and phosphatidylinositol-3,5-bisphosphate. Mutations in this gene are a cause of Charcot-Marie-Tooth disease type 4B, an autosomal recessive demyelinating neuropathy. Alternatively spliced transcript variants encoding multiple isoforms have been found for this gene. [provided by RefSeq, Aug 2011]

Known Variants478 total

rsidPosition (GRCh37)AllelesClassClinVar
rs1692261311:95,566,048A/G—benign
rs88604876211:95,566,097A/G—uncertain significance
rs14173838811:95,566,267T/C—likely benign
rs92342538311:95,566,412C/G—uncertain significance
rs88604876311:95,566,416G/C—uncertain significance
rs11240401011:95,566,440C/A—benign
rs11803383311:95,566,502C/T—benign
rs52540411:95,566,520A/G—benign
rs14539423211:95,566,628G/T—uncertain significance
rs56282651611:95,566,632A/C—uncertain significance
rs7957616011:95,566,770T/G—likely benign
rs100654255611:95,566,798A/C—uncertain significance
rs59627711:95,566,886G/A—benign
rs14922334911:95,567,010G/C—benign
rs88604876411:95,567,029T/C—uncertain significance
rs49630511:95,567,035C/T—benign
rs1692261511:95,567,058G/A—benign
rs54724033111:95,567,115A/C—uncertain significance
rs186314119611:95,567,183T/C—uncertain significance
rs186314245111:95,567,205C/T—uncertain significance
rs88604876611:95,567,304G/A—uncertain significance
rs14798277911:95,567,365G/C—likely benign
rs1692262211:95,567,388A/G—benign
rs186315418711:95,567,418G/A—uncertain significance
rs5780762511:95,567,467A/G—benign
rs55529097111:95,567,544A/T—uncertain significance
rs53206932811:95,567,617C/T—likely benign
rs19225768111:95,567,629C/T—uncertain significance
rs186316411411:95,567,644G/C—uncertain significance
rs77678811811:95,567,775T/G—uncertain significance
rs88604876811:95,567,794C/T—uncertain significance
rs61102011:95,567,905C/T—benign
rs156534124511:95,568,119A/G—uncertain significance
rs57478174111:95,568,215T/A—uncertain significance
rs37285218211:95,568,242T/G—uncertain significance
rs18570293711:95,568,247T/C—uncertain significance
rs88604876911:95,568,264C/T—uncertain significance
rs11407836311:95,568,291C/T—likely benign
rs36767749911:95,568,321G/C—uncertain significance
rs57815911:95,568,369T/G—likely benign
rs58777938711:95,568,401C/T—uncertain significance
rs159096766111:95,568,437C/T—uncertain significance
rs77952985111:95,568,457T/C—likely benign
rs122077989611:95,568,463A/G—likely benign
rs249638878611:95,568,469G/C—likely benign
rs135622046311:95,568,471C/A—uncertain significance
rs155505665711:95,568,476G/A—uncertain significance
rs92397398511:95,568,486G/A—conflicting classifications of pathogenicity
rs53288562211:95,568,489C/T—uncertain significance
rs78076464611:95,568,490A/C—likely benign
rs74768421311:95,568,502T/G—uncertain significance
rs77749885011:95,568,504T/G—likely benign
rs186321662311:95,568,507C/T—uncertain significance
rs249638951211:95,568,510A/T—uncertain significance
rs77075599211:95,568,519T/C—uncertain significance
rs37192515211:95,568,524C/T—conflicting classifications of pathogenicity
rs75336442811:95,568,525G/A—uncertain significance
rs249638975411:95,568,530G/C—uncertain significance
rs11675063811:95,568,531A/G—conflicting classifications of pathogenicity
rs139206774911:95,568,534T/G—uncertain significance
rs36980489411:95,568,535C/G—uncertain significance
rs213539909011:95,568,539C/T—uncertain significance
rs88604877011:95,568,543G/C—uncertain significance
rs127145566911:95,568,554A/G—uncertain significance
rs76226204511:95,568,560T/C—uncertain significance
rs75083611211:95,568,575C/T—uncertain significance
rs13874629611:95,568,576G/A—conflicting classifications of pathogenicity
rs249639047111:95,568,579T/C—uncertain significance
rs7678411311:95,568,581G/C—likely benign
rs159096809711:95,568,610A/C—likely benign
rs74901054911:95,568,612G/A—uncertain significance
rs47385211:95,568,757C/A—benign
rs49963711:95,569,183G/A—benign
rs62756811:95,569,253A/C—benign
rs75205014811:95,569,292G/T—likely benign
rs75561969211:95,569,294A/G—likely benign
rs36930365111:95,569,297T/C—likely benign
rs186326585011:95,569,300T/C—likely benign
rs90822247011:95,569,305C/G—likely benign
rs156534247911:95,569,308A/G—uncertain significance
rs75690962711:95,569,309T/C—conflicting classifications of pathogenicity
rs77853265511:95,569,312C/T—uncertain significance
rs156534250611:95,569,314G/A—pathogenic
rs186326806711:95,569,319T/G—uncertain significance
rs6173557611:95,569,325C/T—likely benign
rs6173557711:95,569,326G/A—uncertain significance
rs13803665011:95,569,327T/A—likely benign
rs159096894211:95,569,333C/T—likely pathogenic
rs14947696011:95,569,341T/C—conflicting classifications of pathogenicity
rs186326946111:95,569,348T/C—likely benign
rs186326990911:95,569,359G/C—uncertain significance
rs77154880311:95,569,361T/C—uncertain significance
rs134462234811:95,569,370C/T—uncertain significance
rs77335952411:95,569,375G/A—likely benign
rs155505691611:95,569,387A/G—likely benign
rs20071744011:95,569,388T/A—uncertain significance
rs118172396711:95,569,400T/G—uncertain significance
rs155505692411:95,569,408G/A—likely benign
rs14717088911:95,569,415T/C—uncertain significance
rs75011006611:95,569,421G/A—uncertain significance

Showing 100 of 478 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.