MYO6

myosin VI

Summary

This gene encodes a reverse-direction motor protein that moves toward the minus end of actin filaments and plays a role in intracellular vesicle and organelle transport. The protein consists of a motor domain containing an ATP- and an actin-binding site and a globular tail which interacts with other proteins. This protein maintains the structural integrity of inner ear hair cells and mutations in this gene cause non-syndromic autosomal dominant and recessive hearing loss. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2014]

Known Variants641 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs886061758	6:76,458,927	G/A	—	uncertain significance
rs886061759	6:76,458,963	G/C	—	conflicting classifications of pathogenicity
rs566419666	6:76,459,003	G/T	—	uncertain significance
rs149130280	6:76,459,139	C/G	—	conflicting classifications of pathogenicity
rs117153951	6:76,459,182	T/G	—	benign
rs2748956	6:76,465,003	G/C	intron variant	—
rs1467462	6:76,494,801	A/G	intron variant	—
rs9360942	6:76,526,971	A/G	—	benign
rs890890661	6:76,527,021	C/A	—	likely benign
rs6941627	6:76,527,036	A/G	—	benign
rs1280046	6:76,527,043	G/A	—	likely benign
rs56338010	6:76,527,052	G/A	—	benign
rs116700689	6:76,527,061	C/T	—	likely benign
rs781619304	6:76,527,215	C/G	—	uncertain significance
rs746580223	6:76,527,246	C/A	—	uncertain significance
rs2150167197	6:76,527,268	G/A	—	uncertain significance
rs138024490	6:76,527,282	C/T	—	likely benign
rs199508553	6:76,527,290	C/T	—	uncertain significance
rs767670766	6:76,527,291	G/A	—	likely benign
rs758200740	6:76,527,309	A/G	—	likely benign
rs142516093	6:76,527,316	A/G	—	uncertain significance
rs546375259	6:76,527,325	A/T	—	uncertain significance
rs775035511	6:76,527,355	A/G	—	uncertain significance
rs148735953	6:76,527,356	T/C	—	likely benign
rs375031921	6:76,527,367	A/T	—	uncertain significance
rs369442356	6:76,527,392	C/T	—	likely benign
rs576924704	6:76,532,521	A/G	—	uncertain significance
rs1412350073	6:76,532,529	C/G	—	uncertain significance
rs2534896096	6:76,532,543	C/G	—	uncertain significance
rs774802052	6:76,532,544	A/G	—	uncertain significance
rs1344780366	6:76,532,547	A/G	—	uncertain significance
rs757420692	6:76,532,559	G/C	—	uncertain significance
rs114033446	6:76,532,635	T/C	—	benign
rs2273859	6:76,532,719	G/A	—	benign
rs775902087	6:76,538,238	T/G	—	likely benign
rs373199401	6:76,538,254	T/C	—	conflicting classifications of pathogenicity
rs2534950585	6:76,538,256	G/T	—	likely pathogenic
rs768643110	6:76,538,258	T/G	—	conflicting classifications of pathogenicity
rs759372006	6:76,538,286	C/G	—	uncertain significance
rs2534951023	6:76,538,290	T/C	—	uncertain significance
rs1395892527	6:76,538,291	C/T	—	likely benign
rs727504567	6:76,538,307	C/T	stop gained	pathogenic
rs115711509	6:76,538,361	G/A	—	benign
rs1280052	6:76,538,403	G/A	—	benign
rs113576831	6:76,538,459	G/C	—	likely benign
rs79662925	6:76,540,112	G/A	—	benign
rs368072756	6:76,540,121	T/G	—	conflicting classifications of pathogenicity
rs187811833	6:76,540,124	C/T	—	conflicting classifications of pathogenicity
rs1772961050	6:76,540,135	A/G	—	likely benign
rs376613843	6:76,540,141	C/T	—	likely benign
rs573770611	6:76,540,142	G/A	—	uncertain significance
rs1265054734	6:76,540,146	A/G	—	uncertain significance
rs777778726	6:76,540,157	G/A	—	uncertain significance
rs749522327	6:76,540,158	C/T	—	uncertain significance
rs876657910	6:76,540,163	A/G	—	uncertain significance
rs375790985	6:76,540,168	A/G	—	likely benign
rs2534971387	6:76,540,223	A/G	—	uncertain significance
rs141429454	6:76,540,230	T/C	—	uncertain significance
rs74419297	6:76,540,420	A/G	—	likely benign
rs756460203	6:76,542,539	A/G	—	uncertain significance
rs1259894372	6:76,542,559	C/T	—	uncertain significance
rs758630450	6:76,542,573	C/A	—	conflicting classifications of pathogenicity
rs1424113153	6:76,542,579	A/G	—	uncertain significance
rs1773255262	6:76,542,605	T/C	—	uncertain significance
rs565770950	6:76,542,608	C/T	—	conflicting classifications of pathogenicity
rs876657710	6:76,542,625	C/G	stop gained	pathogenic
rs200963569	6:76,542,632	C/T	—	likely benign
rs868572055	6:76,542,634	G/A	—	uncertain significance
rs397517053	6:76,542,637	A/G	—	uncertain significance
rs2534997126	6:76,542,640	C/G	—	uncertain significance
rs201507590	6:76,542,642	G/A	—	benign
rs139570949	6:76,545,379	C/T	—	benign
rs749261743	6:76,545,607	A/G	—	likely benign
rs1034447734	6:76,545,642	A/G	—	likely benign
rs1554205683	6:76,545,655	G/T	—	likely pathogenic
rs1205545327	6:76,545,656	A/G	—	uncertain significance
rs2535029775	6:76,545,659	A/C	—	uncertain significance
rs2535029879	6:76,545,662	G/A	—	uncertain significance
rs1060499650	6:76,545,668	T/A	—	uncertain significance
rs188959117	6:76,545,683	A/G	—	conflicting classifications of pathogenicity
rs12210963	6:76,545,684	T/C	—	benign
rs369806112	6:76,545,686	T/A	—	likely benign
rs1562227404	6:76,545,690	A/G	—	likely benign
rs77818820	6:76,545,858	A/G	—	benign
rs111376920	6:76,550,041	G/T	—	likely benign
rs111567888	6:76,550,111	C/T	—	likely benign
rs114592293	6:76,550,223	A/C	—	likely benign
rs12216518	6:76,550,237	A/G	—	benign
rs113249518	6:76,550,260	C/G	—	likely benign
rs2535094289	6:76,550,298	A/G	—	uncertain significance
rs2535094319	6:76,550,301	G/A	—	pathogenic
rs397517054	6:76,550,306	C/A	—	uncertain significance
rs750374337	6:76,550,312	C/T	—	conflicting classifications of pathogenicity
rs772421255	6:76,550,332	C/A	—	uncertain significance
rs140235734	6:76,550,344	G/A	—	uncertain significance
rs145665265	6:76,550,348	C/T	—	conflicting classifications of pathogenicity
rs886061760	6:76,550,353	A/G	—	uncertain significance
rs557441143	6:76,550,361	C/T	—	pathogenic
rs2150250121	6:76,550,362	G/A	—	uncertain significance
rs2535095459	6:76,550,376	G/A	—	uncertain significance

Showing 100 of 641 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.