RYR2

ryanodine receptor 2

Summary

This gene encodes a ryanodine receptor found in cardiac muscle sarcoplasmic reticulum. The encoded protein is one of the components of a calcium channel, composed of a tetramer of the ryanodine receptor proteins and a tetramer of FK506 binding protein 1B proteins, that supplies calcium to cardiac muscle. Mutations in this gene are associated with stress-induced polymorphic ventricular tachycardia and arrhythmogenic right ventricular dysplasia. [provided by RefSeq, Jul 2008]

Known Variants6,593 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs561504099	1:237,205,369	C/G	—	benign
rs529074394	1:237,205,402	G/C	—	likely benign
rs143537474	1:237,205,515	C/T	—	benign
rs138019171	1:237,205,622	C/A	—	benign
rs535199121	1:237,205,683	C/T	—	benign
rs2148059889	1:237,205,694	A/C	—	benign
rs1426804600	1:237,205,729	C/T	—	benign
rs578020342	1:237,205,759	G/T	—	conflicting classifications of pathogenicity
rs1572422812	1:237,205,775	A/C	—	benign
rs953865083	1:237,205,776	G/A	—	likely benign
rs1553268265	1:237,205,785	G/T	—	likely benign
rs1489951737	1:237,205,790	G/C	—	likely benign
rs545119721	1:237,205,792	G/C	—	likely benign
rs886046260	1:237,205,795	C/A	—	uncertain significance
rs778527185	1:237,205,802	C/A	—	uncertain significance
rs772056240	1:237,205,807	A/G	—	uncertain significance
rs1331034958	1:237,205,809	G/A	—	uncertain significance
rs1248591116	1:237,205,812	G/A	—	uncertain significance
rs1660031623	1:237,205,815	C/A	—	uncertain significance
rs1660031883	1:237,205,820	C/A	—	uncertain significance
rs1660032119	1:237,205,821	C/T	—	uncertain significance
rs1453040850	1:237,205,823	T/C	—	uncertain significance
rs1660032942	1:237,205,825	G/T	—	uncertain significance
rs1019441723	1:237,205,827	C/A	—	likely benign
rs2527003162	1:237,205,829	A/T	—	uncertain significance
rs2527003204	1:237,205,830	T/G	—	uncertain significance
rs2527003251	1:237,205,831	G/A	—	uncertain significance
rs866878858	1:237,205,832	G/C	—	conflicting classifications of pathogenicity
rs2148061465	1:237,205,834	G/T	—	uncertain significance
rs1660034518	1:237,205,835	G/A	—	uncertain significance
rs779910353	1:237,205,840	G/A	—	conflicting classifications of pathogenicity
rs1660036173	1:237,205,841	G/A	—	uncertain significance
rs988712614	1:237,205,842	C/A	—	likely benign
rs2527003742	1:237,205,848	C/T	—	likely benign
rs2148061633	1:237,205,849	G/T	—	likely pathogenic
rs1027423344	1:237,205,850	A/C	—	uncertain significance
rs794728760	1:237,205,853	T/C	—	uncertain significance
rs746811389	1:237,205,857	G/C	—	uncertain significance
rs794728761	1:237,205,858	T/C	—	conflicting classifications of pathogenicity
rs878854155	1:237,205,859	T/G	—	uncertain significance
rs1660038687	1:237,205,860	C/G	—	conflicting classifications of pathogenicity
rs878854156	1:237,205,861	C/T	—	likely benign
rs886043844	1:237,205,862	T/C	—	conflicting classifications of pathogenicity
rs1558130369	1:237,205,863	G/A	—	likely benign
rs868468826	1:237,205,864	C/A	—	likely benign
rs865784613	1:237,205,865	G/C	—	likely pathogenic
rs1660040720	1:237,205,867	A/G	—	uncertain significance
rs768458725	1:237,205,869	T/C	—	conflicting classifications of pathogenicity
rs111305220	1:237,205,871	T/C	—	uncertain significance
rs2148062003	1:237,205,875	C/A	—	uncertain significance
rs886567477	1:237,205,876	G/T	—	likely benign
rs776268082	1:237,205,877	C/T	—	uncertain significance
rs2527004761	1:237,205,878	C/T	—	uncertain significance
rs2527004808	1:237,205,879	G/A	—	uncertain significance
rs1273557361	1:237,205,880	T/A	—	likely benign
rs1353592562	1:237,205,882	C/T	—	likely benign
rs2527004904	1:237,205,884	T/C	—	likely benign
rs2527005035	1:237,205,888	G/T	—	likely benign
rs77780919	1:237,205,906	G/A	—	benign
rs114993095	1:237,205,973	G/A	—	likely benign
rs7554607	1:237,266,603	A/T	—	—
rs1933129	1:237,277,611	T/A	intron variant	—
rs6683225	1:237,349,738	T/A	—	—
rs268786	1:237,355,985	C/G	—	—
rs2275288	1:237,433,524	C/T	—	benign
rs2275287	1:237,433,625	T/C	—	benign
rs549302816	1:237,433,641	C/T	—	likely benign
rs2528048325	1:237,433,780	T/C	—	likely benign
rs1224432787	1:237,433,783	C/G	—	likely benign
rs1689569050	1:237,433,785	C/T	—	likely benign
rs2149346688	1:237,433,786	C/T	—	likely benign
rs760891474	1:237,433,787	C/T	—	likely benign
rs1057522958	1:237,433,788	C/G	—	likely benign
rs764876896	1:237,433,789	C/T	—	likely benign
rs2149346729	1:237,433,791	T/C	—	likely benign
rs750038523	1:237,433,793	G/A	—	likely benign
rs370488091	1:237,433,797	G/T	—	uncertain significance
rs1689570949	1:237,433,798	A/G	—	uncertain significance
rs373674802	1:237,433,799	T/C	—	conflicting classifications of pathogenicity
rs1689571701	1:237,433,805	A/G	—	likely benign
rs1266360671	1:237,433,818	T/G	—	uncertain significance
rs1487597802	1:237,433,819	G/A	—	uncertain significance
rs751027523	1:237,433,823	C/T	—	likely benign
rs368974917	1:237,433,824	G/A	—	uncertain significance
rs1399536009	1:237,433,828	C/G	—	uncertain significance
rs919652347	1:237,433,829	C/G	—	likely benign
rs1444362826	1:237,433,832	C/G	—	uncertain significance
rs780931894	1:237,433,834	A/G	—	uncertain significance
rs1366634657	1:237,433,838	A/G	—	likely benign
rs1553373926	1:237,433,842	C/A	—	conflicting classifications of pathogenicity
rs909314611	1:237,433,843	A/C	—	uncertain significance
rs1057524453	1:237,433,844	A/G	—	likely benign
rs876661385	1:237,433,848	A/C	—	uncertain significance
rs1689577197	1:237,433,850	G/T	—	uncertain significance
rs1689577425	1:237,433,851	C/G	—	uncertain significance
rs1322583844	1:237,433,856	C/T	—	likely benign
rs1689578487	1:237,433,858	T/C	—	uncertain significance
rs747977592	1:237,433,860	G/A	—	uncertain significance
rs1689579128	1:237,433,861	C/A	—	uncertain significance
rs2528050977	1:237,433,869	G/A	—	uncertain significance

Showing 100 of 6,593 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.