MYMK

myomaker, myoblast fusion factor

Summary

Involved in myoblast fusion. Located in plasma membrane. Implicated in Carey-Fineman-Ziter syndrome. [provided by Alliance of Genome Resources, Apr 2025]

Known Variants57 total

rsidPosition (GRCh37)AllelesClassClinVar
rs3720315239:136,379,782G/A—likely benign
rs1469867699:136,379,809C/T—benign
rs7655722659:136,379,810G/A—uncertain significance
rs11745819029:136,379,859T/C—uncertain significance
rs11316922479:136,379,871A/G—pathogenic
rs7575569439:136,379,882C/T—uncertain significance
rs7676270559:136,379,889C/T—uncertain significance
rs177583159:136,379,890A/G—benign
rs2009459009:136,379,911C/T—likely benign
rs97216209:136,380,076A/C—benign
rs98022859:136,380,115A/C—benign
rs7621865619:136,380,623A/C—uncertain significance
rs1494451839:136,380,643C/G—likely benign
rs7666988709:136,380,648C/G—uncertain significance
rs3688408419:136,380,649G/A—likely benign
rs1439562089:136,380,661G/A—likely benign
rs11316922499:136,380,668A/G—pathogenic
rs7690283719:136,380,701A/G—uncertain significance
rs24907989709:136,380,711T/G—uncertain significance
rs93304619:136,383,147C/Gintron variant—
rs92863829:136,383,216T/A——
rs625760439:136,383,635C/T—benign
rs1134936269:136,383,969G/C—benign
rs7559764719:136,383,991C/T—uncertain significance
rs13890318489:136,384,030A/G—uncertain significance
rs7624761229:136,384,047C/G—likely benign
rs1452452999:136,384,079C/T—uncertain significance
rs14320656259:136,384,090A/G—likely pathogenic
rs1452925289:136,384,095G/A—likely benign
rs9643351849:136,384,097C/Tmissense variantpathogenic
rs1378689959:136,384,124G/Tmissense variantpathogenic
rs1404490749:136,384,128G/A—benign
rs7638270829:136,384,130C/T—uncertain significance
rs1499733009:136,384,142G/T—uncertain significance
rs115233079:136,384,162A/G—benign
rs93304629:136,385,088A/C—benign
rs15882661039:136,385,290A/C—uncertain significance
rs7561448089:136,385,303C/T—likely benign
rs7798624689:136,385,304G/A—uncertain significance
rs1434333189:136,385,327C/T—likely benign
rs1491584659:136,385,356C/T—uncertain significance
rs5749591799:136,385,381C/G—uncertain significance
rs1894777589:136,385,386C/T—uncertain significance
rs7549550569:136,385,387G/A—likely benign
rs98022729:136,385,437G/A—benign
rs98022739:136,385,453A/G—benign
rs727792349:136,385,554G/A—benign
rs132899289:136,388,702A/Gintron variant—
rs751544149:136,389,653T/C—benign
rs735535619:136,389,751A/C—benign
rs7506019579:136,389,881C/T—uncertain significance
rs7735879909:136,389,935G/T—uncertain significance
rs1407425309:136,389,959G/A—uncertain significance
rs11316922489:136,389,965A/T—pathogenic
rs133001819:136,390,015A/G—benign
rs20738729:136,390,116G/T—benign
rs625760489:136,390,809G/T——

Gene information from NCBI Gene. Variant classifications from ClinVar.