MYLK2

myosin light chain kinase 2

Summary

This gene encodes a myosin light chain kinase, a calcium/calmodulin dependent enzyme, that is exclusively expressed in adult skeletal muscle. [provided by RefSeq, Jul 2008]

Known Variants553 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs1887731	20:30,407,213	C/T	—	benign
rs1555789794	20:30,407,218	C/T	—	likely benign
rs397517470	20:30,407,371	G/A	—	uncertain significance
rs1452504056	20:30,407,381	C/T	—	uncertain significance
rs117502839	20:30,407,387	G/A	—	conflicting classifications of pathogenicity
rs373406874	20:30,407,388	C/T	—	uncertain significance
rs201983158	20:30,407,389	G/A	—	likely benign
rs2062241187	20:30,407,391	C/T	—	uncertain significance
rs2062241231	20:30,407,398	T/G	—	uncertain significance
rs727503302	20:30,407,399	G/A	—	uncertain significance
rs2062241270	20:30,407,400	G/A	—	uncertain significance
rs754853086	20:30,407,404	A/G	—	likely benign
rs1316397890	20:30,407,415	G/A	—	uncertain significance
rs192056427	20:30,407,433	C/A	—	conflicting classifications of pathogenicity
rs2515450290	20:30,407,443	G/A	—	likely benign
rs2062241484	20:30,407,444	C/A	—	likely benign
rs2062241495	20:30,407,446	G/A	—	likely benign
rs777578125	20:30,407,448	G/C	—	likely benign
rs2123125141	20:30,407,449	G/T	—	uncertain significance
rs1471938352	20:30,407,454	A/T	—	uncertain significance
rs1009454	20:30,407,699	G/A	—	benign
rs2182966	20:30,407,884	A/G	—	likely benign
rs774881101	20:30,407,909	G/T	—	likely benign
rs1060500984	20:30,407,932	A/G	—	uncertain significance
rs562971411	20:30,407,938	C/T	—	uncertain significance
rs776262276	20:30,407,944	G/A	—	uncertain significance
rs2515450870	20:30,407,947	C/A	—	uncertain significance
rs2515450874	20:30,407,949	A/T	—	uncertain significance
rs1183127391	20:30,407,950	C/T	—	uncertain significance
rs1310164094	20:30,407,951	A/G	—	likely benign
rs1600406921	20:30,407,954	T/A	—	likely benign
rs1236244480	20:30,407,960	A/G	—	likely benign
rs752618730	20:30,407,961	C/A	—	uncertain significance
rs757983286	20:30,407,970	G/T	—	uncertain significance
rs2062244368	20:30,407,971	C/T	—	uncertain significance
rs763689763	20:30,407,972	A/C	—	likely benign
rs751317546	20:30,407,973	G/T	—	uncertain significance
rs756949426	20:30,407,975	G/T	—	uncertain significance
rs28763880	20:30,407,978	A/G	—	likely benign
rs551492045	20:30,407,981	C/A	—	uncertain significance
rs779291493	20:30,407,986	G/A	—	uncertain significance
rs1389317242	20:30,407,987	C/A	—	likely benign
rs748682977	20:30,407,989	C/A	—	uncertain significance
rs786205283	20:30,407,992	C/T	—	uncertain significance
rs1442623234	20:30,407,994	G/C	—	uncertain significance
rs150342605	20:30,408,001	A/G	—	uncertain significance
rs2123125859	20:30,408,002	G/A	—	likely benign
rs768640764	20:30,408,010	C/T	—	uncertain significance
rs370435116	20:30,408,011	G/A	—	likely benign
rs2062244940	20:30,408,019	C/T	—	uncertain significance
rs2515451027	20:30,408,021	A/C	—	uncertain significance
rs776859238	20:30,408,022	C/T	—	uncertain significance
rs769568693	20:30,408,025	T/G	—	uncertain significance
rs2123125914	20:30,408,032	A/G	—	likely benign
rs200204126	20:30,408,033	G/A	—	conflicting classifications of pathogenicity
rs762972654	20:30,408,037	C/T	—	uncertain significance
rs527925331	20:30,408,038	C/T	—	likely benign
rs751084569	20:30,408,043	C/T	—	uncertain significance
rs2062245129	20:30,408,044	C/A	—	likely benign
rs2123125941	20:30,408,048	G/A	—	uncertain significance
rs138130914	20:30,408,049	C/A	—	likely benign
rs755363421	20:30,408,060	G/A	—	uncertain significance
rs779321042	20:30,408,063	G/T	—	uncertain significance
rs1266323436	20:30,408,065	T/C	—	likely benign
rs141105787	20:30,408,067	G/C	—	uncertain significance
rs747109352	20:30,408,070	C/T	—	conflicting classifications of pathogenicity
rs1240723658	20:30,408,080	A/G	—	likely benign
rs886056576	20:30,408,081	C/T	—	uncertain significance
rs1404432306	20:30,408,082	C/A	—	uncertain significance
rs2515451136	20:30,408,084	T/A	—	uncertain significance
rs746102821	20:30,408,099	G/A	—	uncertain significance
rs1600407058	20:30,408,100	G/A	—	uncertain significance
rs199791180	20:30,408,102	C/T	—	uncertain significance
rs775335331	20:30,408,103	C/T	—	uncertain significance
rs768745988	20:30,408,116	T/G	—	likely benign
rs138517155	20:30,408,119	C/G	—	uncertain significance
rs774383057	20:30,408,125	C/T	—	likely benign
rs567882762	20:30,408,126	G/A	—	uncertain significance
rs2515451226	20:30,408,128	G/A	—	likely benign
rs1955023201	20:30,408,129	G/A	—	uncertain significance
rs727505328	20:30,408,130	G/A	—	conflicting classifications of pathogenicity
rs1267386817	20:30,408,131	G/C	—	likely benign
rs149280577	20:30,408,134	C/T	—	likely benign
rs753089175	20:30,408,135	G/A	—	uncertain significance
rs121908107	20:30,408,136	C/T	missense variant	pathogenic
rs374353729	20:30,408,137	G/A	—	likely benign
rs2515451253	20:30,408,141	G/T	—	uncertain significance
rs115398036	20:30,408,142	G/A	—	likely benign
rs757350083	20:30,408,143	C/T	—	likely benign
rs781322060	20:30,408,144	A/G	—	uncertain significance
rs987411283	20:30,408,147	G/T	—	uncertain significance
rs397517473	20:30,408,153	C/A	—	uncertain significance
rs749118846	20:30,408,155	C/G	—	likely benign
rs201134349	20:30,408,157	C/G	—	uncertain significance
rs200710399	20:30,408,158	G/A	—	likely benign
rs121908108	20:30,408,160	C/A	missense variant	pathogenic
rs772745416	20:30,408,163	C/T	—	uncertain significance
rs371130292	20:30,408,164	C/T	—	likely benign
rs766074380	20:30,408,169	C/T	—	uncertain significance
rs373609417	20:30,408,170	C/T	—	likely benign

Showing 100 of 553 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.