Gene: LMNA ×
Source: INFERRED ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs878853220
rs878853220
LMNA
G 0.700 CausalMutation CLINVAR New intronic splicing mutation in the LMNA gene causing progressive cardiac conduction defects and variable myopathy. 27717888

2016
dbSNP: rs59332535
rs59332535
LMNA
A 0.700 CausalMutation CLINVAR Hypoplasia of the aorta in a patient diagnosed with LMNA gene mutation. 22883396

2014
dbSNP: rs797045011
rs797045011
LMNA
C 0.700 CausalMutation CLINVAR Genetic analysis in 418 index patients with idiopathic dilated cardiomyopathy: overview of 10 years' experience. 23349452

2013
dbSNP: rs59332535
rs59332535
LMNA
A 0.700 CausalMutation CLINVAR Inflammatory changes in infantile-onset LMNA-associated myopathy. 21632249

2011
dbSNP: rs59332535
rs59332535
LMNA
A 0.700 CausalMutation CLINVAR Specific phosphorylation of Ser458 of A-type lamins in LMNA-associated myopathy patients. 20980393

2010
dbSNP: rs59332535
rs59332535
LMNA
A 0.700 CausalMutation CLINVAR Defects in cell spreading and ERK1/2 activation in fibroblasts with lamin A/C mutations. 19524666

2009
dbSNP: rs59332535
rs59332535
LMNA
A 0.700 CausalMutation CLINVAR Laminopathies in Russian families. 18564364

2008
dbSNP: rs59332535
rs59332535
LMNA
A 0.700 CausalMutation CLINVAR Lamin A N-terminal phosphorylation is associated with myoblast activation: impairment in Emery-Dreifuss muscular dystrophy. 15744034

2005
dbSNP: rs59332535
rs59332535
LMNA
A 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
dbSNP: rs59332535
rs59332535
LMNA
A 0.700 CausalMutation CLINVAR Mutation analysis of the lamin A/C gene (LMNA) among patients with different cardiomuscular phenotypes. 14684700

2003
dbSNP: rs59332535
rs59332535
LMNA
A 0.700 CausalMutation CLINVAR Clinical relevance of atrial fibrillation/flutter, stroke, pacemaker implant, and heart failure in Emery-Dreifuss muscular dystrophy: a long-term longitudinal study. 12649505

2003
dbSNP: rs59332535
rs59332535
LMNA
A 0.700 CausalMutation CLINVAR The R249Q mutation is located within the central rod domain of the LMNA gene, and has been described in at least five unrelated sporadic EDMD2 patients. 12032588

2002
dbSNP: rs59332535
rs59332535
LMNA
A 0.700 CausalMutation CLINVAR Novel and recurrent mutations in lamin A/C in patients with Emery-Dreifuss muscular dystrophy. 11503164

2001
dbSNP: rs59332535
rs59332535
LMNA
A 0.700 CausalMutation CLINVAR Different mutations in the LMNA gene cause autosomal dominant and autosomal recessive Emery-Dreifuss muscular dystrophy. 10739764

2000
dbSNP: rs59332535
rs59332535
LMNA
A 0.700 CausalMutation CLINVAR Clinical and molecular genetic spectrum of autosomal dominant Emery-Dreifuss muscular dystrophy due to mutations of the lamin A/C gene. 10939567

2000
dbSNP: rs11575937
rs11575937
LMNA
A 0.700 CausalMutation CLINVAR

dbSNP: rs1553265999
rs1553265999
LMNA
C 0.700 GeneticVariation CLINVAR

dbSNP: rs267607539
rs267607539
LMNA
C 0.700 CausalMutation CLINVAR

dbSNP: rs267607540
rs267607540
LMNA
C 0.700 CausalMutation CLINVAR

dbSNP: rs267607632
rs267607632
LMNA
C 0.700 CausalMutation CLINVAR

dbSNP: rs386134243
rs386134243
LMNA
T 0.700 CausalMutation CLINVAR

dbSNP: rs56699480
rs56699480
LMNA
T 0.700 CausalMutation CLINVAR

dbSNP: rs56771886
rs56771886
LMNA
C 0.700 CausalMutation CLINVAR

dbSNP: rs58048078
rs58048078
LMNA
A 0.700 CausalMutation CLINVAR

dbSNP: rs60458016
rs60458016
LMNA
A 0.700 CausalMutation CLINVAR