RYR2 Chromosome 1
Ryanodine receptor 2
Upload your DNA to see your personal genotypes for variants in RYR2.
What This Gene Does
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]
Gene Info
Gene Group
"Ryanodine receptors|EF-hand domain containing|Armadillo like helical domain containing|MicroRNA protein coding host genes"
Locus Type
gene with protein product
Location
1q43
Ensembl
ENSG00000198626
Associated Conditions (35)
Cardiomyopathy
Catecholaminergic polymorphic ventricular tachycardia 1
Arrhythmogenic right ventricular dysplasia 2
Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome
Cardiovascular phenotype
Catecholaminergic polymorphic ventricular tachycardia
RYR2-related disorder
Long QT syndrome
Conduction disorder of the heart
6 conditions
Ventricular fibrillation
paroxysmal familial
type 1
Primary dilated cardiomyopathy
Cardiac arrhythmia
Arrhythmogenic right ventricular dysplasia 9
Wolff-Parkinson-White pattern
Death in infancy
Sudden cardiac death
Hypertrophic cardiomyopathy
+15 more conditions
Key Variants
RS1002006336
Conflicting classifications of pathogenicity
Cardiomyopathy, Catecholaminergic polymorphic ventricular tachycardia 1, Cardiomyopathy
Health Risk
RS1006109370
Conflicting classifications of pathogenicity
Arrhythmogenic right ventricular dysplasia 2, Catecholaminergic polymorphic ventricular tachycardia 1, Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome
Health Risk
RS1008000319
Conflicting classifications of pathogenicity
Catecholaminergic polymorphic ventricular tachycardia 1, Catecholaminergic polymorphic ventricular tachycardia 1
Health Risk
RS1014182598
Conflicting classifications of pathogenicity
Cardiomyopathy, Catecholaminergic polymorphic ventricular tachycardia 1, Catecholaminergic polymorphic ventricular tachycardia
Health Risk
RS1019112544
Conflicting classifications of pathogenicity
Catecholaminergic polymorphic ventricular tachycardia 1, Arrhythmogenic right ventricular dysplasia 2, Cardiovascular phenotype
Health Risk
RS1024126701
Conflicting classifications of pathogenicity
Cardiomyopathy, Cardiovascular phenotype, Catecholaminergic polymorphic ventricular tachycardia 1
Health Risk
RS1025023837
Conflicting classifications of pathogenicity
Cardiovascular phenotype, Catecholaminergic polymorphic ventricular tachycardia 1, Cardiomyopathy
Health Risk
RS1029442866
Conflicting classifications of pathogenicity
Cardiomyopathy, Catecholaminergic polymorphic ventricular tachycardia 1, Cardiovascular phenotype
Health Risk
RS1032783973
Conflicting classifications of pathogenicity
Cardiomyopathy, Cardiovascular phenotype, Catecholaminergic polymorphic ventricular tachycardia 1
Health Risk
RS1037732490
Conflicting classifications of pathogenicity
Cardiovascular phenotype, Catecholaminergic polymorphic ventricular tachycardia 1, Catecholaminergic polymorphic ventricular tachycardia
Health Risk
RS1042196921
Conflicting classifications of pathogenicity
Cardiomyopathy, Catecholaminergic polymorphic ventricular tachycardia 1, Cardiomyopathy
Health Risk
RS1057521205
Conflicting classifications of pathogenicity
Catecholaminergic polymorphic ventricular tachycardia 1, Arrhythmogenic right ventricular dysplasia 2, Cardiomyopathy
Health Risk
All Variants (853)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1694311922 | Health Risk | Likely pathogenic | Catecholaminergic polymorphic ventricular tachycardia, Catecholaminergic polymorphic ventricular tachycardia |
| RS1695315646 | Health Risk | Likely pathogenic | Catecholaminergic polymorphic ventricular tachycardia 1, Catecholaminergic polymorphic ventricular tachycardia 1 |
| RS1695349832 | Health Risk | Likely pathogenic | Catecholaminergic polymorphic ventricular tachycardia 1, Catecholaminergic polymorphic ventricular tachycardia 1 |
| RS1695363148 | Health Risk | Likely pathogenic | Catecholaminergic polymorphic ventricular tachycardia 1, Catecholaminergic polymorphic ventricular tachycardia 1 |
| RS1702087452 | Health Risk | Likely pathogenic | Catecholaminergic polymorphic ventricular tachycardia 1, Catecholaminergic polymorphic ventricular tachycardia 1 |
| RS193922622 | Health Risk | Likely pathogenic | Cardiac arrhythmia, Cardiac arrhythmia |
| RS2102947618 | Health Risk | Likely pathogenic | Catecholaminergic polymorphic ventricular tachycardia 1, Catecholaminergic polymorphic ventricular tachycardia 1 |
| RS2148061633 | Health Risk | Likely pathogenic | — |
| RS2148707460 | Health Risk | Likely pathogenic | Catecholaminergic polymorphic ventricular tachycardia 1, Catecholaminergic polymorphic ventricular tachycardia 1 |
| RS2149266454 | Health Risk | Likely pathogenic | Catecholaminergic polymorphic ventricular tachycardia 1, Catecholaminergic polymorphic ventricular tachycardia 1 |
| RS2149277178 | Health Risk | Likely pathogenic | Catecholaminergic polymorphic ventricular tachycardia 1, Catecholaminergic polymorphic ventricular tachycardia 1 |
| RS2149314726 | Health Risk | Likely pathogenic | Catecholaminergic polymorphic ventricular tachycardia 1, Catecholaminergic polymorphic ventricular tachycardia 1 |
| RS2149354389 | Health Risk | Likely pathogenic | Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome, Catecholaminergic polymorphic ventricular tachycardia 1, Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome |
| RS2149388042 | Health Risk | Likely pathogenic | Catecholaminergic polymorphic ventricular tachycardia 1, Catecholaminergic polymorphic ventricular tachycardia 1, Catecholaminergic polymorphic ventricular tachycardia 1 |
| RS2149437622 | Health Risk | Likely pathogenic | Catecholaminergic polymorphic ventricular tachycardia 1, Catecholaminergic polymorphic ventricular tachycardia 1 |
| RS2149437719 | Health Risk | Likely pathogenic | Catecholaminergic polymorphic ventricular tachycardia 1, Catecholaminergic polymorphic ventricular tachycardia 1 |
| RS2150146622 | Health Risk | Likely pathogenic | Catecholaminergic polymorphic ventricular tachycardia 1, Catecholaminergic polymorphic ventricular tachycardia 1 |
| RS2527697526 | Health Risk | Likely pathogenic | Arrhythmogenic right ventricular dysplasia 2, Catecholaminergic polymorphic ventricular tachycardia 1, Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome |
| RS2527773195 | Health Risk | Likely pathogenic | — |
| RS2527783445 | Health Risk | Likely pathogenic | Cardiovascular phenotype, Cardiovascular phenotype |
| RS2527785680 | Health Risk | Likely pathogenic | Catecholaminergic polymorphic ventricular tachycardia 1, Catecholaminergic polymorphic ventricular tachycardia 1 |
| RS2527787768 | Health Risk | Likely pathogenic | — |
| RS2528051422 | Health Risk | Likely pathogenic | Catecholaminergic polymorphic ventricular tachycardia 1, Catecholaminergic polymorphic ventricular tachycardia 1 |
| RS2528138701 | Health Risk | Likely pathogenic | Catecholaminergic polymorphic ventricular tachycardia 1, Catecholaminergic polymorphic ventricular tachycardia 1 |
| RS2528379037 | Health Risk | Likely pathogenic | Catecholaminergic polymorphic ventricular tachycardia 1, Catecholaminergic polymorphic ventricular tachycardia 1, Catecholaminergic polymorphic ventricular tachycardia 1 |
| RS2546959015 | Health Risk | Likely pathogenic | — |
| RS2546959354 | Health Risk | Likely pathogenic | Catecholaminergic polymorphic ventricular tachycardia 1, Catecholaminergic polymorphic ventricular tachycardia 1 |
| RS2546959528 | Health Risk | Likely pathogenic | Catecholaminergic polymorphic ventricular tachycardia 1, Catecholaminergic polymorphic ventricular tachycardia 1 |
| RS2547411368 | Health Risk | Likely pathogenic | Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome, Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome |
| RS374306538 | Health Risk | Likely pathogenic | Catecholaminergic polymorphic ventricular tachycardia 1, Cardiovascular phenotype, Catecholaminergic polymorphic ventricular tachycardia 1 |
| RS397516504 | Health Risk | Likely pathogenic | Cardiomyopathy, Catecholaminergic polymorphic ventricular tachycardia 1, Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome |
| RS397516508 | Health Risk | Likely pathogenic | Catecholaminergic polymorphic ventricular tachycardia, Catecholaminergic polymorphic ventricular tachycardia 1, Cardiovascular phenotype |
| RS730880187 | Health Risk | Likely pathogenic | Catecholaminergic polymorphic ventricular tachycardia 1, Catecholaminergic polymorphic ventricular tachycardia 1 |
| RS730880199 | Health Risk | Likely pathogenic | Left ventricular noncompaction cardiomyopathy, Left ventricular noncompaction cardiomyopathy |
| RS730880201 | Health Risk | Likely pathogenic | Catecholaminergic polymorphic ventricular tachycardia 1, Catecholaminergic polymorphic ventricular tachycardia 1 |
| RS749930577 | Health Risk | Likely pathogenic | Cardiovascular phenotype, Cardiovascular phenotype |
| RS765238394 | Health Risk | Likely pathogenic | Catecholaminergic polymorphic ventricular tachycardia 1, Catecholaminergic polymorphic ventricular tachycardia 1 |
| RS794728707 | Health Risk | Likely pathogenic | — |
| RS794728708 | Health Risk | Likely pathogenic | Catecholaminergic polymorphic ventricular tachycardia 1, Arrhythmogenic right ventricular dysplasia 2, Cardiovascular phenotype |
| RS794728712 | Health Risk | Likely pathogenic | RYR2-related disorder, RYR2-related disorder |
| RS794728713 | Health Risk | Likely pathogenic | — |
| RS794728718 | Health Risk | Likely pathogenic | — |
| RS794728743 | Health Risk | Likely pathogenic | — |
| RS794728744 | Health Risk | Likely pathogenic | — |
| RS794728745 | Health Risk | Likely pathogenic | — |
| RS794728746 | Health Risk | Likely pathogenic | Catecholaminergic polymorphic ventricular tachycardia 1, Catecholaminergic polymorphic ventricular tachycardia 1, Catecholaminergic polymorphic ventricular tachycardia 1 |
| RS794728748 | Health Risk | Likely pathogenic | Catecholaminergic polymorphic ventricular tachycardia 1, Catecholaminergic polymorphic ventricular tachycardia 1 |
| RS794728750 | Health Risk | Likely pathogenic | — |
| RS794728757 | Health Risk | Likely pathogenic | — |
| RS794728782 | Health Risk | Likely pathogenic | Catecholaminergic polymorphic ventricular tachycardia 1, Catecholaminergic polymorphic ventricular tachycardia 1, Catecholaminergic polymorphic ventricular tachycardia 1 |