NM_001232.4(CASQ2):c.939+1G>TPathogenic
Cardiovascular phenotype|not provided|Catecholaminergic polymorphic ventricular tachycardia 2;Catecholaminergic polymorphic ventricular tachycardia 1|Catecholaminergic polymorphic ventricular tachycardia 2|Catecholaminergic polymorphic ventricular tachycardia 1|Catecholaminergic polymorphic ventricular tachycardia
β
β
ββ2026
NM_001232.4(CASQ2):c.923C>T (p.Pro308Leu)Pathogenic
not provided|Cardiovascular phenotype|Catecholaminergic polymorphic ventricular tachycardia 1|Catecholaminergic polymorphic ventricular tachycardia 2
β
β
ββ2025β Residue 308
NM_001232.4(CASQ2):c.420+1G>ALikely pathogenic
Catecholaminergic polymorphic ventricular tachycardia 1|Cardiovascular phenotype
β
β
ββ2025
NM_001232.4(CASQ2):c.164A>G (p.Tyr55Cys)Pathogenic
Catecholaminergic polymorphic ventricular tachycardia 2|Cardiovascular phenotype|Catecholaminergic polymorphic ventricular tachycardia 1
β
β
ββ2025β Residue 55
NM_001232.4(CASQ2):c.939+5G>CPathogenic
Cardiovascular phenotype|Catecholaminergic polymorphic ventricular tachycardia 1|Catecholaminergic polymorphic ventricular tachycardia 2
β
β
ββ2025
NM_001232.4(CASQ2):c.606+2T>ALikely pathogenic
Catecholaminergic polymorphic ventricular tachycardia 2|Catecholaminergic polymorphic ventricular tachycardia 1
β
β
ββ2025
NM_001232.4(CASQ2):c.381C>T (p.Gly127=)Pathogenic
Catecholaminergic polymorphic ventricular tachycardia 2|Catecholaminergic polymorphic ventricular tachycardia 1|Cardiovascular phenotype
β
β
ββ2025β Residue 127
NM_001232.4(CASQ2):c.97C>T (p.Arg33Ter)Pathogenic
Catecholaminergic polymorphic ventricular tachycardia 2|not provided|Catecholaminergic polymorphic ventricular tachycardia 1|Long QT syndrome|Catecholaminergic polymorphic ventricular tachycardia 1;Catecholaminergic polymorphic ventricular tachycardia 2|Cardiovascular phenotype
β
β
ββ2025β Residue 33
NM_001232.4(CASQ2):c.1028G>A (p.Trp343Ter)Pathogenic
Cardiovascular phenotype|Catecholaminergic polymorphic ventricular tachycardia 1
β
β
ββ2025β Residue 343
NM_001232.4(CASQ2):c.738-1G>TLikely pathogenic
Catecholaminergic polymorphic ventricular tachycardia 2|Catecholaminergic polymorphic ventricular tachycardia 1
β
β
ββ2025
NM_001232.4(CASQ2):c.974_983del (p.Asp325fs)Pathogenic
Catecholaminergic polymorphic ventricular tachycardia 1|not provided
β
β
ββ2025β Residue 325
NM_001232.4(CASQ2):c.261dup (p.Ala88fs)Pathogenic
Cardiovascular phenotype|not provided|Catecholaminergic polymorphic ventricular tachycardia 1
β
β
ββ2025β Residue 88
NM_001232.4(CASQ2):c.115G>T (p.Glu39Ter)Pathogenic
not provided|Catecholaminergic polymorphic ventricular tachycardia 1|Catecholaminergic polymorphic ventricular tachycardia 2
β
β
ββ2025β Residue 39
NM_001232.4(CASQ2):c.576C>A (p.Tyr192Ter)Pathogenic
Catecholaminergic polymorphic ventricular tachycardia 2;Catecholaminergic polymorphic ventricular tachycardia 1|Catecholaminergic polymorphic ventricular tachycardia 1|Catecholaminergic polymorphic ventricular tachycardia 2|Cardiovascular phenotype|not provided
β
β
ββ2025β Residue 192
NM_001232.4(CASQ2):c.1017dup (p.Asp340Ter)Pathogenic
Catecholaminergic polymorphic ventricular tachycardia 1
β
β
ββ2025β Residue 340
NM_001232.4(CASQ2):c.199C>T (p.Gln67Ter)Pathogenic
Cardiovascular phenotype|Catecholaminergic polymorphic ventricular tachycardia 1
β
β
ββ2024β Residue 67
NM_001232.4(CASQ2):c.98G>A (p.Arg33Gln)Pathogenic
Catecholaminergic polymorphic ventricular tachycardia 1|Catecholaminergic polymorphic ventricular tachycardia 2|Catecholaminergic polymorphic ventricular tachycardia
β
β
ββ2024β Residue 33
NM_001232.4(CASQ2):c.783G>A (p.Trp261Ter)Pathogenic
Catecholaminergic polymorphic ventricular tachycardia 2|Catecholaminergic polymorphic ventricular tachycardia 1|not provided
β
β
ββ2024β Residue 261
NM_001232.4(CASQ2):c.715G>T (p.Glu239Ter)Pathogenic
Cardiovascular phenotype|Catecholaminergic polymorphic ventricular tachycardia 1|Catecholaminergic polymorphic ventricular tachycardia 2
β
β
ββ2024β Residue 239
NM_001232.4(CASQ2):c.546del (p.Phe182fs)Pathogenic
Catecholaminergic polymorphic ventricular tachycardia 1|Cardiovascular phenotype|Catecholaminergic polymorphic ventricular tachycardia 2
β
β
ββ2024β Residue 182