Gene: RYR2 ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs886039172
rs886039172
RYR2
0.700 GeneticVariation UNIPROT Loss of luminal Ca2+ activation in the cardiac ryanodine receptor is associated with ventricular fibrillation and sudden death. 17984046

2007
dbSNP: rs886039172
rs886039172
RYR2
0.700 GeneticVariation UNIPROT 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: rs886039172
rs886039172
RYR2
0.700 GeneticVariation UNIPROT Gene symbol: RYR2. Disease: Effort-induced polymorphic ventricular arrhythmias. 15046073

2004
dbSNP: rs886039172
rs886039172
RYR2
0.700 GeneticVariation UNIPROT Molecular genetics of exercise-induced polymorphic ventricular tachycardia: identification of three novel cardiac ryanodine receptor mutations and two common calsequestrin 2 amino-acid polymorphisms. 14571276

2003
dbSNP: rs886039172
rs886039172
RYR2
0.700 GeneticVariation UNIPROT Mutations in the cardiac ryanodine receptor gene (hRyR2) underlie catecholaminergic polymorphic ventricular tachycardia. 11208676

2001
dbSNP: rs886039172
rs886039172
RYR2
0.700 GeneticVariation UNIPROT Spectrum and frequency of cardiac channel defects in swimming-triggered arrhythmia syndromes. 15466642

2004
dbSNP: rs886039172
rs886039172
RYR2
0.700 GeneticVariation UNIPROT Mutations of the cardiac ryanodine receptor (RyR2) gene in familial polymorphic ventricular tachycardia. 11157710

2001
dbSNP: rs886039172
rs886039172
RYR2
0.700 GeneticVariation UNIPROT Screening for ryanodine receptor type 2 mutations in families with effort-induced polymorphic ventricular arrhythmias and sudden death: early diagnosis of asymptomatic carriers. 12106942

2002
dbSNP: rs886039172
rs886039172
RYR2
0.700 GeneticVariation UNIPROT Clinical and molecular characterization of patients with catecholaminergic polymorphic ventricular tachycardia. 12093772

2002
dbSNP: rs886039172
rs886039172
RYR2
0.700 GeneticVariation UNIPROT Structural insights into the human RyR2 N-terminal region involved in cardiac arrhythmias. 25372681

2014
dbSNP: rs886039172
rs886039172
RYR2
0.700 GeneticVariation UNIPROT Targeted mutational analysis of the RyR2-encoded cardiac ryanodine receptor in sudden unexplained death: a molecular autopsy of 49 medical examiner/coroner's cases. 15544015

2004
dbSNP: rs886039172
rs886039172
RYR2
0.700 GeneticVariation UNIPROT A novel RyR2 mutation in a 2-year-old baby presenting with atrial fibrillation, atrial flutter, and atrial ectopic tachycardia. 24793461

2014
dbSNP: rs886039172
rs886039172
RYR2
0.700 GeneticVariation UNIPROT Gene symbol: RYR2. Disease: Effort-induced polymorphic ventricular arrhythmias. 15046072

2004
dbSNP: rs886039172
rs886039172
RYR2
0.700 GeneticVariation UNIPROT Enhanced Cytosolic Ca2+ Activation Underlies a Common Defect of Central Domain Cardiac Ryanodine Receptor Mutations Linked to Arrhythmias. 27733687

2016
dbSNP: rs876661386
rs876661386
RYR2
C 0.700 GeneticVariation CLINVAR

dbSNP: rs794728832
rs794728832
RYR2
G 0.700 GeneticVariation CLINVAR

dbSNP: rs794728830
rs794728830
RYR2
0.010 GeneticVariation BEFREE Segregation studies show that one variant (p.H4579Y) co-segregates with CPVT and is presumed to be pathogenic. 22222782

2013
dbSNP: rs794728811
rs794728811
RYR2
A 0.700 CausalMutation CLINVAR Unusual clinical presentation in a family with catecholaminergic polymorphic ventricular tachycardia due to a G14876A ryanodine receptor gene mutation. 15721128

2005
dbSNP: rs794728811
rs794728811
RYR2
A 0.700 CausalMutation CLINVAR We screened 12 Finnish CPVT probands for mutations in these genes and identified three novel RYR2 mutations (V2306I, P4902L, R4959Q), which were absent in unaffected and control individuals. 14571276

2003
dbSNP: rs794728811
rs794728811
RYR2
A 0.700 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: rs794728810
rs794728810
RYR2
C 0.700 GeneticVariation CLINVAR

dbSNP: rs794728804
rs794728804
RYR2
A 0.700 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: rs794728804
rs794728804
RYR2
A 0.700 CausalMutation CLINVAR Clinical and molecular characterization of patients with catecholaminergic polymorphic ventricular tachycardia. 12093772

2002
dbSNP: rs794728804
rs794728804
RYR2
A 0.700 CausalMutation CLINVAR Genetic background of catecholaminergic polymorphic ventricular tachycardia in Japan. 23595086

2013
dbSNP: rs794728804
rs794728804
RYR2
A 0.700 CausalMutation CLINVAR Gender Differences in the Inheritance Mode of RYR2 Mutations in Catecholaminergic Polymorphic Ventricular Tachycardia Patients. 26114861

2015