NM_001035.3(RYR2):c.12470G>A (p.Arg4157Gln)Pathogenic
not provided|Catecholaminergic polymorphic ventricular tachycardia 1
★★☆☆2026→ Residue 4157
NM_001035.3(RYR2):c.230C>T (p.Ala77Val)Pathogenic
not provided|Cardiovascular phenotype|Catecholaminergic polymorphic ventricular tachycardia 1
★★☆☆2026→ Residue 77
NM_001035.3(RYR2):c.7175A>G (p.Tyr2392Cys)Pathogenic
Catecholaminergic polymorphic ventricular tachycardia 1
★★☆☆2026→ Residue 2392
NM_001035.3(RYR2):c.1259G>A (p.Arg420Gln)Pathogenic
not provided|Long QT syndrome|Cardiovascular phenotype|Catecholaminergic polymorphic ventricular tachycardia 1
★★☆☆2026→ Residue 420
NM_001035.3(RYR2):c.6737C>T (p.Ser2246Leu)Pathogenic
Catecholaminergic polymorphic ventricular tachycardia 1|not provided|Cardiomyopathy|Cardiovascular phenotype
★★☆☆2026→ Residue 2246
NM_001035.3(RYR2):c.6649C>T (p.His2217Tyr)Pathogenic
Catecholaminergic polymorphic ventricular tachycardia 1|Cardiovascular phenotype
★★☆☆2025→ Residue 2217
NM_001035.3(RYR2):c.14174A>G (p.Tyr4725Cys)Pathogenic
Catecholaminergic polymorphic ventricular tachycardia|Catecholaminergic polymorphic ventricular tachycardia 1|not provided
★★☆☆2025→ Residue 4725
NM_001035.3(RYR2):c.12533A>G (p.Asn4178Ser)Pathogenic
not provided|Catecholaminergic polymorphic ventricular tachycardia 1|Cardiovascular phenotype
★★☆☆2025→ Residue 4178
NM_001035.3(RYR2):c.1258C>T (p.Arg420Trp)Pathogenic
not provided|Ventricular fibrillation|Catecholaminergic polymorphic ventricular tachycardia|Arrhythmogenic right ventricular dysplasia 2;Catecholaminergic polymorphic ventricular tachycardia 1|Cardiomyopathy|Cardiovascular phenotype|Catecholaminergic polymorphic ventricular tachycardia 1
★★☆☆2025→ Residue 420
NM_001035.3(RYR2):c.6940G>A (p.Glu2314Lys)Likely pathogenic
not provided|Catecholaminergic polymorphic ventricular tachycardia 1
★★☆☆2025→ Residue 2314
NM_001035.3(RYR2):c.12446A>G (p.Tyr4149Cys)Pathogenic
Catecholaminergic polymorphic ventricular tachycardia 1|Cardiovascular phenotype
★★☆☆2025→ Residue 4149
NM_001035.3(RYR2):c.527G>T (p.Arg176Leu)Likely pathogenic
not provided|Cardiovascular phenotype
★★☆☆2025→ Residue 176
NM_001035.3(RYR2):c.5170G>A (p.Glu1724Lys)Pathogenic
not provided|Cardiovascular phenotype|Catecholaminergic polymorphic ventricular tachycardia 1|Long QT syndrome
★★☆☆2025→ Residue 1724
NM_001035.3(RYR2):c.11200C>T (p.Arg3734Cys)Likely pathogenic
not provided|Catecholaminergic polymorphic ventricular tachycardia 1
★★☆☆2025→ Residue 3734
NM_001035.3(RYR2):c.7160C>T (p.Ala2387Val)Pathogenic
not provided|Arrhythmogenic right ventricular dysplasia 2;Catecholaminergic polymorphic ventricular tachycardia 1|Catecholaminergic polymorphic ventricular tachycardia 1|Cardiovascular phenotype
★★☆☆2025→ Residue 2387
NM_001035.3(RYR2):c.12334G>A (p.Asp4112Asn)Pathogenic
Catecholaminergic polymorphic ventricular tachycardia 1|Cardiovascular phenotype|not provided
★★☆☆2025→ Residue 4112
NM_001035.3(RYR2):c.344A>G (p.Tyr115Cys)Pathogenic
Catecholaminergic polymorphic ventricular tachycardia 1
★★☆☆2025→ Residue 115
NM_001035.3(RYR2):c.1069G>A (p.Gly357Ser)Pathogenic
Cardiovascular phenotype|not provided|Catecholaminergic polymorphic ventricular tachycardia 1|Cardiomyopathy
★★☆☆2025→ Residue 357
NM_001035.3(RYR2):c.14311G>A (p.Val4771Ile)Pathogenic
not provided|Cardiovascular phenotype|Catecholaminergic polymorphic ventricular tachycardia 1
★★☆☆2025→ Residue 4771
NM_001035.3(RYR2):c.11836G>A (p.Gly3946Ser)Pathogenic
not provided|Catecholaminergic polymorphic ventricular tachycardia 1|RYR2-related disorder
★★☆☆2025→ Residue 3946