Gene: LMNA ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs886043109
rs886043109
LMNA
A 0.700 GeneticVariation CLINVAR Multisystem dystrophy syndrome due to novel missense mutations in the amino-terminal head and alpha-helical rod domains of the lamin A/C gene. 12015247

2002
dbSNP: rs57520892
rs57520892
LMNA
C 0.700 CausalMutation CLINVAR Mandibuloacral dysplasia is caused by a mutation in LMNA-encoding lamin A/C. 12075506

2002
dbSNP: rs57520892
rs57520892
LMNA
A 0.700 CausalMutation CLINVAR Mandibuloacral dysplasia is caused by a mutation in LMNA-encoding lamin A/C. 12075506

2002
dbSNP: rs60872029
rs60872029
LMNA
G 0.700 CausalMutation CLINVAR Frequent low penetrance mutations in the Lamin A/C gene, causing Emery Dreifuss muscular dystrophy. 12467752

2002
dbSNP: rs397517889
rs397517889
LMNA
T 0.700 CausalMutation CLINVAR Natural history of dilated cardiomyopathy due to lamin A/C gene mutations. 12628721

2003
dbSNP: rs60864230
rs60864230
LMNA
A 0.700 CausalMutation CLINVAR A new clinical condition linked to a novel mutation in lamins A and C with generalized lipoatrophy, insulin-resistant diabetes, disseminated leukomelanodermic papules, liver steatosis, and cardiomyopathy. 12629077

2003
dbSNP: rs397517889
rs397517889
LMNA
T 0.700 CausalMutation CLINVAR Functional consequences of an LMNA mutation associated with a new cardiac and non-cardiac phenotype. 12673789

2003
dbSNP: rs61672878
rs61672878
LMNA
A 0.700 CausalMutation CLINVAR Functional consequences of an LMNA mutation associated with a new cardiac and non-cardiac phenotype. 12673789

2003
dbSNP: rs58596362
rs58596362
LMNA
T 0.700 CausalMutation CLINVAR Recurrent de novo point mutations in lamin A cause Hutchinson-Gilford progeria syndrome. 12714972

2003
dbSNP: rs28933091
rs28933091
LMNA
G 0.700 CausalMutation CLINVAR Effect of pathogenic mis-sense mutations in lamin A on its interaction with emerin in vivo. 12783988

2003
dbSNP: rs60864230
rs60864230
LMNA
A 0.700 CausalMutation CLINVAR LMNA mutations in atypical Werner's syndrome. 12927431

2003
dbSNP: rs59885338
rs59885338
LMNA
T 0.700 CausalMutation CLINVAR Phenotypic variability in autosomal recessive axonal Charcot-Marie-Tooth disease due to the R298C mutation in lamin A/C. 14607793

2004
dbSNP: rs60864230
rs60864230
LMNA
A 0.700 CausalMutation CLINVAR LMNA mutations in atypical Werner's syndrome. 14615128

2003
dbSNP: rs57520892
rs57520892
LMNA
A 0.700 CausalMutation CLINVAR Mandibuloacral dysplasia caused by homozygosity for the R527H mutation in lamin A/C. 14627682

2003
dbSNP: rs57520892
rs57520892
LMNA
C 0.700 CausalMutation CLINVAR Mandibuloacral dysplasia caused by homozygosity for the R527H mutation in lamin A/C. 14627682

2003
dbSNP: rs56984562
rs56984562
LMNA
T 0.700 CausalMutation CLINVAR Apical left ventricular aneurysm without atrio-ventricular block due to a lamin A/C gene mutation. 14675861

2003
dbSNP: rs61444459
rs61444459
LMNA
A 0.700 CausalMutation CLINVAR Apical left ventricular aneurysm without atrio-ventricular block due to a lamin A/C gene mutation. 14675861

2003
dbSNP: rs150840924
rs150840924
LMNA
T 0.700 CausalMutation CLINVAR Mutation analysis of the lamin A/C gene (LMNA) among patients with different cardiomuscular phenotypes. 14684700

2003
dbSNP: rs56984562
rs56984562
LMNA
A 0.700 GeneticVariation CLINVAR Mutation analysis of the lamin A/C gene (LMNA) among patients with different cardiomuscular phenotypes. 14684700

2003
dbSNP: rs57629361
rs57629361
LMNA
G 0.700 CausalMutation CLINVAR Mutation analysis of the lamin A/C gene (LMNA) among patients with different cardiomuscular phenotypes. 14684700

2003
dbSNP: rs58932704
rs58932704
LMNA
T 0.700 CausalMutation CLINVAR Expression of a mutant lamin A that causes Emery-Dreifuss muscular dystrophy inhibits in vitro differentiation of C2C12 myoblasts. 14749366

2004
dbSNP: rs397517889
rs397517889
LMNA
T 0.700 CausalMutation CLINVAR Expression and localization of nuclear proteins in autosomal-dominant Emery-Dreifuss muscular dystrophy with LMNA R377H mutation. 15053843

2004
dbSNP: rs267607555
rs267607555
LMNA
T 0.700 CausalMutation CLINVAR Familial dilated cardiomyopathy and isolated left ventricular noncompaction associated with lamin A/C gene mutations. 15219508

2004
dbSNP: rs59026483
rs59026483
LMNA
T 0.700 CausalMutation CLINVAR Familial dilated cardiomyopathy and isolated left ventricular noncompaction associated with lamin A/C gene mutations. 15219508

2004
dbSNP: rs60872029
rs60872029
LMNA
G 0.700 CausalMutation CLINVAR Nuclear envelope alterations in fibroblasts from patients with muscular dystrophy, cardiomyopathy, and partial lipodystrophy carrying lamin A/C gene mutations. 15372542

2004