Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs267607277
rs267607277
CALM1
CUI: C1631597
Disease: VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder)
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder) 		G 0.710 GeneticVariation CLINVAR

dbSNP: rs267607277
rs267607277
CALM1
CUI: C4015671
Disease: LONG QT SYNDROME 14
LONG QT SYNDROME 14 		G 0.700 CausalMutation CLINVAR Arrhythmogenic Calmodulin Mutations Affect the Activation and Termination of Cardiac Ryanodine Receptor-mediated Ca2+ Release. 26309258

2015
dbSNP: rs267607277
rs267607277
CALM1
CUI: C3554047
Disease: VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4 		G 0.700 CausalMutation CLINVAR Calmodulin mutations causing catecholaminergic polymorphic ventricular tachycardia confer opposing functional and biophysical molecular changes. 25557436

2015
dbSNP: rs267607277
rs267607277
CALM1
CUI: C4015671
Disease: LONG QT SYNDROME 14
LONG QT SYNDROME 14 		G 0.700 CausalMutation CLINVAR Calmodulin mutations causing catecholaminergic polymorphic ventricular tachycardia confer opposing functional and biophysical molecular changes. 25557436

2015
dbSNP: rs267607277
rs267607277
CALM1
CUI: C3554047
Disease: VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4 		G 0.700 CausalMutation CLINVAR Arrhythmogenic Calmodulin Mutations Affect the Activation and Termination of Cardiac Ryanodine Receptor-mediated Ca2+ Release. 26309258

2015
dbSNP: rs267607277
rs267607277
CALM1
CUI: C3554047
Disease: VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4 		G 0.700 CausalMutation CLINVAR Divergent regulation of ryanodine receptor 2 calcium release channels by arrhythmogenic human calmodulin missense mutants. 24563457

2014
dbSNP: rs267607277
rs267607277
CALM1
CUI: C4015671
Disease: LONG QT SYNDROME 14
LONG QT SYNDROME 14 		G 0.700 CausalMutation CLINVAR Calmodulin mutations associated with long QT syndrome prevent inactivation of cardiac L-type Ca(2+) currents and promote proarrhythmic behavior in ventricular myocytes. 24816216

2014
dbSNP: rs267607277
rs267607277
CALM1
CUI: C3554047
Disease: VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4 		G 0.700 CausalMutation CLINVAR Calmodulin mutations associated with long QT syndrome prevent inactivation of cardiac L-type Ca(2+) currents and promote proarrhythmic behavior in ventricular myocytes. 24816216

2014
dbSNP: rs267607277
rs267607277
CALM1
CUI: C4015671
Disease: LONG QT SYNDROME 14
LONG QT SYNDROME 14 		G 0.700 CausalMutation CLINVAR Divergent regulation of ryanodine receptor 2 calcium release channels by arrhythmogenic human calmodulin missense mutants. 24563457

2014
dbSNP: rs267607277
rs267607277
CALM1
CUI: C3554047
Disease: VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4 		G 0.700 GeneticVariation CLINVAR Divergent regulation of ryanodine receptor 2 calcium release channels by arrhythmogenic human calmodulin missense mutants. 24563457

2014
dbSNP: rs267607277
rs267607277
CALM1
CUI: C3554047
Disease: VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4 		G 0.700 CausalMutation CLINVAR Mutations in calmodulin cause ventricular tachycardia and sudden cardiac death. 23040497

2012
dbSNP: rs267607277
rs267607277
CALM1
CUI: C3554047
Disease: VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4 		G 0.700 GeneticVariation CLINVAR Mutations in calmodulin cause ventricular tachycardia and sudden cardiac death. 23040497

2012
dbSNP: rs267607277
rs267607277
CALM1
CUI: C4015671
Disease: LONG QT SYNDROME 14
LONG QT SYNDROME 14 		G 0.700 CausalMutation CLINVAR Mutations in calmodulin cause ventricular tachycardia and sudden cardiac death. 23040497

2012