PYGM

glycogen phosphorylase, muscle associated

Summary

This gene encodes a muscle enzyme involved in glycogenolysis. Highly similar enzymes encoded by different genes are found in liver and brain. Mutations in this gene are associated with McArdle disease (myophosphorylase deficiency), a glycogen storage disease of muscle. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Sep 2009]

Known Variants1,036 total

rsidPosition (GRCh37)AllelesClassClinVar
rs124539950711:64,514,051C/T—uncertain significance
rs18659821411:64,514,100C/T—likely benign
rs76346827211:64,514,120G/A—likely benign
rs105751652911:64,514,132C/Astop lostpathogenic
rs140035374011:64,514,133A/T—uncertain significance
rs205830998611:64,514,135A/T—uncertain significance
rs89666802711:64,514,142C/T—uncertain significance
rs205831011211:64,514,144T/A—uncertain significance
rs14730716811:64,514,145C/T—uncertain significance
rs75967185311:64,514,146C/T—likely benign
rs77537639011:64,514,148G/C—uncertain significance
rs20011896211:64,514,160G/C—uncertain significance
rs159240436511:64,514,164G/A—likely benign
rs75767020511:64,514,166G/A—uncertain significance
rs125595693811:64,514,167G/A—likely benign
rs213582230711:64,514,170A/G—likely benign
rs119981849711:64,514,173C/T—likely benign
rs205831118611:64,514,191C/T—likely benign
rs115644142611:64,514,192C/T—uncertain significance
rs20046433311:64,514,193G/A—uncertain significance
rs77850447111:64,514,194G/A—likely benign
rs74756783411:64,514,195G/T—uncertain significance
rs123655365011:64,514,197A/G—likely benign
rs75795055711:64,514,198T/C—uncertain significance
rs53743800211:64,514,200C/T—likely benign
rs159240447611:64,514,203G/C—likely benign
rs205831169011:64,514,209G/A—likely benign
rs88604846011:64,514,210G/T—uncertain significance
rs122542852311:64,514,212G/T—likely benign
rs13923005511:64,514,213C/T—uncertain significance
rs14317727211:64,514,214G/A—conflicting classifications of pathogenicity
rs249663608611:64,514,215G/A—likely benign
rs121303323311:64,514,223A/G—uncertain significance
rs148565797111:64,514,227C/T—likely benign
rs74611765611:64,514,233A/G—likely benign
rs76986053411:64,514,236G/A—likely benign
rs156553086311:64,514,239G/C—likely benign
rs37330510611:64,514,243A/G—uncertain significance
rs19992754411:64,514,248C/T—conflicting classifications of pathogenicity
rs37229536911:64,514,249C/G—uncertain significance
rs116633599811:64,514,254C/G—likely benign
rs155513322511:64,514,260C/T—likely benign
rs147615735311:64,514,261C/T—uncertain significance
rs75926059911:64,514,262G/A—uncertain significance
rs37432211511:64,514,263C/T—likely benign
rs37740121311:64,514,264G/A—uncertain significance
rs11910325811:64,514,268A/Tmissense variantpathogenic
rs57758987911:64,514,271C/G—uncertain significance
rs213582280411:64,514,275T/G—likely benign
rs249663658711:64,514,276G/T—uncertain significance
rs54048752511:64,514,278G/A—likely benign
rs155513324811:64,514,281C/T—pathogenic
rs249663664311:64,514,282T/C—likely pathogenic
rs213582285911:64,514,286G/A—likely benign
rs76960115311:64,514,287G/A—likely benign
rs205831358711:64,514,288T/C—likely benign
rs104530414811:64,514,291A/C—likely benign
rs127564849511:64,514,294G/A—likely benign
rs74950181711:64,514,295G/C—likely benign
rs249663675911:64,514,296A/G—likely benign
rs14632049611:64,514,350G/A—likely benign
rs89789295111:64,514,382G/T—likely benign
rs213582317811:64,514,383G/T—likely benign
rs53612924911:64,514,385C/T—likely benign
rs129568812311:64,514,392C/T—likely pathogenic
rs99351428811:64,514,396G/A—likely benign
rs75729229611:64,514,397T/C—uncertain significance
rs205831510411:64,514,399C/A—uncertain significance
rs249663729011:64,514,401A/G—likely benign
rs249663730011:64,514,402G/A—likely benign
rs78103184711:64,514,404C/T—uncertain significance
rs75035689511:64,514,405G/C—uncertain significance
rs116248797311:64,514,408G/A—likely benign
rs213582330111:64,514,411T/C—likely benign
rs146764501311:64,514,414C/T—likely benign
rs249663738111:64,514,416C/A—likely pathogenic
rs159240503111:64,514,417C/T—likely benign
rs105751700111:64,514,420G/Tstop gainedpathogenic
rs75592386111:64,514,427A/G—uncertain significance
rs249663746111:64,514,429G/A—likely benign
rs213582334111:64,514,430T/C—uncertain significance
rs101417708911:64,514,437C/T—uncertain significance
rs213582336411:64,514,438A/G—likely benign
rs249663751611:64,514,440A/C—uncertain significance
rs213582337311:64,514,441A/G—likely benign
rs75180774511:64,514,446C/T—uncertain significance
rs125125870611:64,514,447G/A—likely benign
rs104521567711:64,514,450G/A—conflicting classifications of pathogenicity
rs205831582311:64,514,453T/G—uncertain significance
rs249663764411:64,514,460C/T—likely pathogenic
rs116305369511:64,514,463G/A—likely benign
rs76881572211:64,514,466G/A—likely benign
rs86597848311:64,514,467G/A—likely benign
rs249663769711:64,514,472G/A—likely benign
rs249663771311:64,514,475T/G—likely benign
rs56960211:64,514,506A/G—benign
rs75601553411:64,514,677C/T—likely benign
rs75358703511:64,514,679C/T—likely benign
rs18469413011:64,514,680G/A—likely benign
rs74835646111:64,514,681G/A—likely benign

Showing 100 of 1,036 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.