Gene: RYR2 ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121918600
rs121918600
RYR2
T 0.850 GeneticVariation CLINVAR

dbSNP: rs121918600
rs121918600
RYR2
T 0.850 CausalMutation CLINVAR

dbSNP: rs794728708
rs794728708
RYR2
A 0.830 CausalMutation CLINVAR Leaky RyR2 channels unleash a brainstem spreading depolarization mechanism of sudden cardiac death. 27482086

2016
dbSNP: rs794728708
rs794728708
RYR2
A 0.830 CausalMutation CLINVAR Paralogue annotation identifies novel pathogenic variants in patients with Brugada syndrome and catecholaminergic polymorphic ventricular tachycardia. 24136861

2014
dbSNP: rs794728708
rs794728708
RYR2
A 0.830 CausalMutation CLINVAR New exome data question the pathogenicity of genetic variants previously associated with catecholaminergic polymorphic ventricular tachycardia. 24025405

2013
dbSNP: rs794728708
rs794728708
RYR2
A 0.830 CausalMutation CLINVAR Inherited dysfunction of sarcoplasmic reticulum Ca2+ handling and arrhythmogenesis. 21454795

2011
dbSNP: rs794728708
rs794728708
RYR2
A 0.830 CausalMutation CLINVAR High prevalence of exercise-induced arrhythmias in catecholaminergic polymorphic ventricular tachycardia mutation-positive family members diagnosed by cascade genetic screening. 20106799

2010
dbSNP: rs794728708
rs794728708
RYR2
A 0.830 CausalMutation CLINVAR Accelerated development of pressure overload-induced cardiac hypertrophy and dysfunction in an RyR2-R176Q knockin mouse model. 20157052

2010
dbSNP: rs794728708
rs794728708
RYR2
A 0.830 CausalMutation CLINVAR The RYR2-encoded ryanodine receptor/calcium release channel in patients diagnosed previously with either catecholaminergic polymorphic ventricular tachycardia or genotype negative, exercise-induced long QT syndrome: a comprehensive open reading frame mutational analysis. 19926015

2009
dbSNP: rs794728708
rs794728708
RYR2
A 0.830 CausalMutation CLINVAR Molecular genetic analysis of long QT syndrome in Norway indicating a high prevalence of heterozygous mutation carriers. 18752142

2008
dbSNP: rs794728708
rs794728708
RYR2
A 0.830 CausalMutation CLINVAR Mice with the R176Q cardiac ryanodine receptor mutation exhibit catecholamine-induced ventricular tachycardia and cardiomyopathy. 16873551

2006
dbSNP: rs794728708
rs794728708
RYR2
A 0.830 CausalMutation CLINVAR Spectrum and prevalence of cardiac ryanodine receptor (RyR2) mutations in a cohort of unrelated patients referred explicitly for long QT syndrome genetic testing. 16188589

2005
dbSNP: rs794728708
rs794728708
RYR2
A 0.830 CausalMutation CLINVAR Identification of mutations in the cardiac ryanodine receptor gene in families affected with arrhythmogenic right ventricular cardiomyopathy type 2 (ARVD2). 11159936

2001
dbSNP: rs121918597
rs121918597
RYR2
T 0.820 CausalMutation CLINVAR

dbSNP: rs121918603
rs121918603
RYR2
T 0.820 CausalMutation CLINVAR

dbSNP: rs121918604
rs121918604
RYR2
T 0.810 CausalMutation CLINVAR

dbSNP: rs121918604
rs121918604
RYR2
T 0.810 GeneticVariation CLINVAR

dbSNP: rs190140598
rs190140598
RYR2
T 0.800 CausalMutation CLINVAR RyR2R420Q catecholaminergic polymorphic ventricular tachycardia mutation induces bradycardia by disturbing the coupled clock pacemaker mechanism. 28422759

2017
dbSNP: rs190140598
rs190140598
RYR2
T 0.800 CausalMutation CLINVAR Utility of Post-Mortem Genetic Testing in Cases of Sudden Arrhythmic Death Syndrome. 28449774

2017
dbSNP: rs794728753
rs794728753
RYR2
A 0.800 CausalMutation CLINVAR Genetic Testing in the Evaluation of Unexplained Cardiac Arrest: From the CASPER (Cardiac Arrest Survivors With Preserved Ejection Fraction Registry). 28600387

2017
dbSNP: rs190140598
rs190140598
RYR2
T 0.800 CausalMutation CLINVAR Non-ventricular, Clinical, and Functional Features of the RyR2(R420Q) Mutation Causing Catecholaminergic Polymorphic Ventricular Tachycardia. 25440180

2015
dbSNP: rs190140598
rs190140598
RYR2
T 0.800 CausalMutation CLINVAR Functional abnormalities in iPSC-derived cardiomyocytes generated from CPVT1 and CPVT2 patients carrying ryanodine or calsequestrin mutations. 26153920

2015
dbSNP: rs190140598
rs190140598
RYR2
T 0.800 CausalMutation CLINVAR A knock-in mouse model of N-terminal R420W mutation of cardiac ryanodine receptor exhibits arrhythmogenesis with abnormal calcium dynamics in cardiomyocytes. 25193700

2014
dbSNP: rs190140598
rs190140598
RYR2
T 0.800 CausalMutation CLINVAR Hypertrophy of lymphoid organs is a possible phenotypic characteristic of R420W mutation of the cardiac ryanodine receptor gene: a study using a knock-in mouse model. 25087098

2014
dbSNP: rs794728753
rs794728753
RYR2
A 0.800 GeneticVariation CLINVAR Paralogue annotation identifies novel pathogenic variants in patients with Brugada syndrome and catecholaminergic polymorphic ventricular tachycardia. 24136861

2014