Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs60682848
rs60682848
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
T 0.710 CausalMutation CLINVAR Arrhythmia characterization and long-term outcomes in catecholaminergic polymorphic ventricular tachycardia. 21315846

2011

dbSNP: rs60682848
rs60682848
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
T 0.710 CausalMutation CLINVAR Muscle imaging analogies in a cohort of patients with different clinical phenotypes caused by LMNA gene mutations. 19882644

2010

dbSNP: rs60682848
rs60682848
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
T 0.710 CausalMutation CLINVAR Lamin A/C gene mutations in familial cardiomyopathy with advanced atrioventricular block and arrhythmia. 19638735

2009

dbSNP: rs60682848
rs60682848
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
T 0.710 CausalMutation CLINVAR High yield of LMNA mutations in patients with dilated cardiomyopathy and/or conduction disease referred to cardiogenetics outpatient clinics. 18035086

2007

dbSNP: rs60682848
rs60682848
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
T 0.710 CausalMutation CLINVAR Novel lamin A/C mutations in two families with dilated cardiomyopathy and conduction system disease. 11561226

2001

dbSNP: rs60682848
rs60682848
Hereditary Motor and Sensory-Neuropathy Type II
T 0.700 CausalMutation CLINVAR Evolution of a genetic diagnosis. 24237251

2014

dbSNP: rs60682848
rs60682848
Hereditary Motor and Sensory-Neuropathy Type II
T 0.700 CausalMutation CLINVAR Modeling of lamin A/C mutation premature cardiac aging using patient‐specific induced pluripotent stem cells. 23362510

2012

dbSNP: rs60682848
rs60682848
Hereditary Motor and Sensory-Neuropathy Type II
T 0.700 CausalMutation CLINVAR High yield of LMNA mutations in patients with dilated cardiomyopathy and/or conduction disease referred to cardiogenetics outpatient clinics. 18035086

2007

dbSNP: rs60682848
rs60682848
Hereditary Motor and Sensory-Neuropathy Type II
T 0.700 CausalMutation CLINVAR Novel lamin A/C mutations in two families with dilated cardiomyopathy and conduction system disease. 11561226

2001

dbSNP: rs60682848
rs60682848
Hereditary Motor and Sensory-Neuropathy Type II
T 0.700 CausalMutation CLINVAR [Urinary incontinence in women is treated differently depending on the type]. 2280636

1990

dbSNP: rs60682848
rs60682848
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1B (disorder)
T 0.700 CausalMutation CLINVAR

dbSNP: rs60682848
rs60682848
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)
T 0.700 CausalMutation CLINVAR