Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs59270054
rs59270054
LMNA
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		A 0.720 CausalMutation CLINVAR Identification of a new lamin A/C mutation in a Chinese family affected with atrioventricular block as the prominent phenotype. 20155465

2010
dbSNP: rs59270054
rs59270054
LMNA
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		A 0.720 CausalMutation CLINVAR LMNA E82K mutation activates FAS and mitochondrial pathways of apoptosis in heart tissue specific transgenic mice. 21151901

2010
dbSNP: rs59270054
rs59270054
LMNA
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		A 0.720 CausalMutation CLINVAR Connexin 43 remodeling induced by LMNA gene mutation Glu82Lys in familial dilated cardiomyopathy with atrial ventricular block. 20497714

2010
dbSNP: rs59270054
rs59270054
LMNA
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		A 0.720 CausalMutation CLINVAR [Effects of a novel familial dilated cardiomyopathy associated LMNA gene mutation E82K on cell cycle of HEK293 cells]. 17386158

2007
dbSNP: rs59270054
rs59270054
LMNA
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		A 0.720 CausalMutation CLINVAR Mutation Glu82Lys in lamin A/C gene is associated with cardiomyopathy and conduction defect. 16630578

2006
dbSNP: rs59270054
rs59270054
LMNA
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		A 0.720 CausalMutation CLINVAR [A novel LMNA gene mutation E82K associated with familial dilated cardiomyopathy]. 16266469

2005
dbSNP: rs59270054
rs59270054
LMNA
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		A 0.700 CausalMutation CLINVAR Connexin 43 remodeling induced by LMNA gene mutation Glu82Lys in familial dilated cardiomyopathy with atrial ventricular block. 20497714

2010
dbSNP: rs59270054
rs59270054
LMNA
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		A 0.700 CausalMutation CLINVAR LMNA E82K mutation activates FAS and mitochondrial pathways of apoptosis in heart tissue specific transgenic mice. 21151901

2010
dbSNP: rs59270054
rs59270054
LMNA
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		A 0.700 CausalMutation CLINVAR Identification of a new lamin A/C mutation in a Chinese family affected with atrioventricular block as the prominent phenotype. 20155465

2010
dbSNP: rs59270054
rs59270054
LMNA
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		A 0.700 CausalMutation CLINVAR Mutation Glu82Lys in lamin A/C gene is associated with cardiomyopathy and conduction defect. 16630578

2006