MYO9A

myosin IXA

Summary

This gene encodes a member of the myosin superfamily. The protein represents an unconventional myosin; it should not be confused with the conventional non-muscle myosin-9 (MYH9). Unconventional myosins contain the basic domains of conventional myosins and are further distinguished from class members by their tail domains. They function as actin-based molecular motors. Mutations in this gene have been associated with Bardet-Biedl Syndrome. [provided by RefSeq, Dec 2011]

Known Variants295 total

rsidPosition (GRCh37)AllelesClassClinVar
rs262552915:72,118,777G/C—benign
rs93977092315:72,118,925A/T—uncertain significance
rs254342396915:72,119,001C/A—uncertain significance
rs75254550415:72,119,006A/C—uncertain significance
rs205451513815:72,119,021G/A—uncertain significance
rs254342754315:72,119,038C/G—uncertain significance
rs11204885315:72,119,057T/G—benign
rs19080092715:72,119,083C/T—likely benign
rs254343940815:72,119,106T/C—uncertain significance
rs254344086015:72,119,115G/A—uncertain significance
rs141478694415:72,119,118T/C—uncertain significance
rs76267048915:72,119,186C/T—uncertain significance
rs20201433115:72,119,246G/A—uncertain significance
rs205452944115:72,119,291A/G—uncertain significance
rs141867590115:72,119,294G/A—uncertain significance
rs205453110215:72,119,323C/A—uncertain significance
rs254346876515:72,119,344C/G—uncertain significance
rs18191653015:72,119,352C/G—uncertain significance
rs11620623615:72,119,423C/T—benign
rs1051897015:72,119,569C/T—benign
rs229128015:72,120,240T/C—benign
rs14708886015:72,120,258T/C—conflicting classifications of pathogenicity
rs20168048315:72,120,329C/T—uncertain significance
rs75093116415:72,120,333G/A—uncertain significance
rs76478687715:72,120,345G/C—uncertain significance
rs15055374015:72,122,491C/T—likely benign
rs133877366315:72,122,508C/A—uncertain significance
rs254367528515:72,122,514G/C—uncertain significance
rs13860379515:72,122,551A/C—uncertain significance
rs14931232215:72,122,559A/C—uncertain significance
rs159598164015:72,122,572G/T—likely benign
rs95027574115:72,122,607G/T—uncertain significance
rs14627667415:72,122,611C/T—likely benign
rs13944923115:72,122,616G/A—uncertain significance
rs74826456415:72,122,633C/T—uncertain significance
rs14234592715:72,122,642C/T—likely benign
rs156717619015:72,122,645C/T—conflicting classifications of pathogenicity
rs18553088715:72,141,249G/T—likely benign
rs1210153815:72,141,645C/T—benign
rs76276972615:72,142,381T/C—uncertain significance
rs254462451015:72,142,420T/C—uncertain significance
rs78054058415:72,142,434C/T—uncertain significance
rs77047895415:72,142,470T/C—uncertain significance
rs2848903515:72,142,541G/C—benign
rs74541432915:72,143,629G/A—likely benign
rs8002856915:72,143,643A/T—benign
rs76664794915:72,143,673G/A—uncertain significance
rs254469262715:72,143,678G/T—uncertain significance
rs1695632815:72,143,855A/T—benign
rs7402245815:72,144,494C/T—conflicting classifications of pathogenicity
rs14265895715:72,144,522G/C—benign
rs138729461515:72,144,529T/C—uncertain significance
rs87901670915:72,144,532C/T—uncertain significance
rs77778013115:72,144,563C/T—uncertain significance
rs159602952115:72,144,573A/G—likely benign
rs11401439115:72,144,697A/C—benign
rs14571815515:72,146,728A/T—benign
rs74948725515:72,146,734C/T—likely benign
rs77465377515:72,146,736G/A—uncertain significance
rs159603442315:72,146,793G/A—uncertain significance
rs14894830115:72,146,816A/G—uncertain significance
rs254481270715:72,146,837G/A—uncertain significance
rs20045535815:72,146,844T/A—uncertain significance
rs76734012315:72,146,888C/T—uncertain significance
rs14616140015:72,146,915A/T—benign
rs749710415:72,154,000C/A——
rs147043507015:72,154,904G/A—uncertain significance
rs13810564315:72,154,914T/C—likely benign
rs11242642615:72,155,068G/A—benign
rs1290242115:72,161,403T/Cintron variant—
rs159608263515:72,168,123A/G—likely benign
rs1205079415:72,169,466G/Aintron variant—
rs14843564415:72,170,400G/A—likely benign
rs77519816415:72,170,412T/C—uncertain significance
rs254843986315:72,170,413C/T—uncertain significance
rs75433642915:72,170,451A/C—uncertain significance
rs14254683215:72,170,478A/G—likely benign
rs77985794215:72,170,505G/A—uncertain significance
rs129783700015:72,170,518T/C—uncertain significance
rs77347964215:72,170,555G/A—likely benign
rs1185656815:72,170,599T/C—benign
rs230657615:72,170,686T/C—benign
rs649497415:72,170,762C/A—benign
rs76597790915:72,172,100G/A—uncertain significance
rs205681902015:72,172,168A/T—uncertain significance
rs2840826615:72,172,515A/G—benign
rs76401864215:72,172,690A/G—uncertain significance
rs75143987915:72,172,706T/C—likely benign
rs2838025815:72,172,745T/C—benign
rs2848371615:72,172,778A/G—benign
rs78016130915:72,172,797C/T—uncertain significance
rs7447574215:72,172,798A/G—likely benign
rs37172602715:72,172,809G/C—uncertain significance
rs74902778415:72,172,843G/C—uncertain significance
rs37150711915:72,172,853G/A—likely benign
rs205684305715:72,172,872G/A—uncertain significance
rs230657515:72,172,883G/C—benign
rs97202915:72,172,986C/T—benign
rs97202815:72,173,092G/A—benign
rs1695636715:72,175,950G/A—benign

Showing 100 of 295 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.