MYH9

myosin heavy chain 9

Summary

This gene encodes a conventional non-muscle myosin; this protein should not be confused with the unconventional myosin-9a or 9b (MYO9A or MYO9B). The encoded protein is a myosin IIA heavy chain that contains an IQ domain and a myosin head-like domain which is involved in several important functions, including cytokinesis, cell motility and maintenance of cell shape. Defects in this gene have been associated with non-syndromic sensorineural deafness autosomal dominant type 17, Epstein syndrome, Alport syndrome with macrothrombocytopenia, Sebastian syndrome, Fechtner syndrome and macrothrombocytopenia with progressive sensorineural deafness. [provided by RefSeq, Dec 2011]

Known Variants1,283 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs544966086	22:36,677,315	G/A	—	likely benign
rs144335048	22:36,677,320	G/A	—	likely benign
rs1374073858	22:36,677,384	T/C	—	uncertain significance
rs146582828	22:36,677,385	G/A	—	likely benign
rs2481	22:36,677,400	G/A	—	benign
rs56360445	22:36,677,510	T/A	—	uncertain significance
rs886057470	22:36,677,521	T/C	—	uncertain significance
rs886057471	22:36,677,615	T/A	—	uncertain significance
rs779365782	22:36,677,688	G/C	—	uncertain significance
rs886057472	22:36,677,736	T/C	—	uncertain significance
rs886057473	22:36,677,739	T/C	—	uncertain significance
rs192511111	22:36,677,808	C/A	—	benign
rs528245823	22:36,677,912	A/C	—	uncertain significance
rs7078	22:36,677,914	A/G	3 prime UTR variant	benign
rs568025076	22:36,677,966	T/C	—	uncertain significance
rs12107	22:36,677,982	G/A	3 prime UTR variant	benign
rs55994070	22:36,678,028	G/A	—	likely benign
rs886057474	22:36,678,058	A/G	—	uncertain significance
rs527539496	22:36,678,069	G/C	—	uncertain significance
rs554451749	22:36,678,075	G/A	—	uncertain significance
rs136200	22:36,678,118	C/T	—	benign
rs116572976	22:36,678,125	C/T	—	likely benign
rs533769148	22:36,678,175	C/T	—	uncertain significance
rs55979529	22:36,678,240	G/A	—	conflicting classifications of pathogenicity
rs566336121	22:36,678,385	G/A	—	likely benign
rs189775203	22:36,678,389	G/A	—	likely benign
rs16996639	22:36,678,402	G/A	—	benign
rs1021214858	22:36,678,441	G/A	—	uncertain significance
rs11089787	22:36,678,453	C/G	—	benign
rs2016505869	22:36,678,466	G/A	—	uncertain significance
rs136201	22:36,678,471	G/A	—	likely benign
rs11703176	22:36,678,476	C/A	—	benign
rs771229879	22:36,678,519	A/G	—	conflicting classifications of pathogenicity
rs181364853	22:36,678,521	G/A	—	conflicting classifications of pathogenicity
rs114268057	22:36,678,577	G/T	—	benign
rs115869378	22:36,678,578	G/T	—	benign
rs886057476	22:36,678,607	T/C	—	uncertain significance
rs56134611	22:36,678,633	G/A	—	likely benign
rs886057477	22:36,678,640	C/T	—	uncertain significance
rs1045383138	22:36,678,641	G/A	—	uncertain significance
rs750071451	22:36,678,701	C/T	—	conflicting classifications of pathogenicity
rs201455315	22:36,678,706	G/A	—	conflicting classifications of pathogenicity
rs1328127655	22:36,678,712	G/A	—	likely benign
rs149560153	22:36,678,719	C/T	—	conflicting classifications of pathogenicity
rs144179406	22:36,678,720	G/A	—	likely benign
rs2517943296	22:36,678,731	C/A	—	uncertain significance
rs1247127142	22:36,678,743	C/G	—	conflicting classifications of pathogenicity
rs746116612	22:36,678,744	C/T	—	likely benign
rs775685559	22:36,678,746	C/T	—	conflicting classifications of pathogenicity
rs763195367	22:36,678,755	C/G	—	benign
rs1478233597	22:36,678,764	C/T	—	conflicting classifications of pathogenicity
rs761625286	22:36,678,765	G/A	—	likely benign
rs750263908	22:36,678,768	G/A	—	likely benign
rs140588099	22:36,678,779	C/T	—	likely benign
rs537608045	22:36,678,780	G/A	—	likely benign
rs115031369	22:36,678,782	C/T	—	likely benign
rs147409380	22:36,678,783	G/A	—	likely benign
rs781388651	22:36,678,790	C/T	—	conflicting classifications of pathogenicity
rs727503281	22:36,678,791	G/A	—	conflicting classifications of pathogenicity
rs2146325441	22:36,678,792	G/A	—	uncertain significance
rs80338835	22:36,678,800	G/A	stop gained	pathogenic
rs1291058743	22:36,678,802	C/T	—	uncertain significance
rs142565774	22:36,678,809	C/T	—	conflicting classifications of pathogenicity
rs367698156	22:36,678,810	G/A	—	conflicting classifications of pathogenicity
rs80050551	22:36,678,816	C/T	—	likely benign
rs1161615308	22:36,678,824	C/T	—	uncertain significance
rs370834297	22:36,678,828	G/A	—	conflicting classifications of pathogenicity
rs753492355	22:36,678,830	G/A	—	uncertain significance
rs746967490	22:36,678,836	G/A	—	conflicting classifications of pathogenicity
rs727503282	22:36,678,841	G/A	—	likely benign
rs735854	22:36,679,058	T/C	intron variant	benign
rs116427717	22:36,679,928	A/G	—	likely benign
rs368826129	22:36,680,105	C/T	—	likely benign
rs35011248	22:36,680,110	C/A	—	likely benign
rs369772359	22:36,680,119	G/A	—	likely benign
rs201699088	22:36,680,124	G/A	—	benign
rs201008102	22:36,680,130	G/A	—	likely benign
rs766826415	22:36,680,131	C/A	—	likely benign
rs755146783	22:36,680,132	G/A	—	likely benign
rs879004303	22:36,680,135	T/C	—	uncertain significance
rs878924546	22:36,680,137	A/G	—	pathogenic
rs1603482692	22:36,680,140	T/G	—	likely benign
rs748117987	22:36,680,144	C/T	—	likely benign
rs1285335824	22:36,680,156	G/C	—	conflicting classifications of pathogenicity
rs1343867602	22:36,680,159	G/C	—	uncertain significance
rs150728943	22:36,680,162	G/A	—	likely benign
rs745743682	22:36,680,168	G/A	—	likely benign
rs1603482694	22:36,680,170	G/A	—	uncertain significance
rs1226192819	22:36,680,182	C/T	—	uncertain significance
rs139486152	22:36,680,183	G/A	—	benign
rs727504711	22:36,680,186	C/T	—	likely benign
rs149663189	22:36,680,187	G/A	—	conflicting classifications of pathogenicity
rs767057323	22:36,680,193	G/A	—	conflicting classifications of pathogenicity
rs754138115	22:36,680,194	T/C	—	conflicting classifications of pathogenicity
rs145444485	22:36,680,195	G/A	—	likely benign
rs752993016	22:36,680,198	G/C	—	uncertain significance
rs747131828	22:36,680,209	C/T	—	uncertain significance
rs559732738	22:36,680,210	G/A	—	likely benign
rs372051836	22:36,680,224	G/T	—	uncertain significance
rs748946434	22:36,680,233	C/T	—	conflicting classifications of pathogenicity

Showing 100 of 1,283 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.