Gene: LMNA ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs794728589
rs794728589
LMNA
A 0.700 CausalMutation CLINVAR Lamin A/C mutation analysis in a cohort of 324 unrelated patients with idiopathic or familial dilated cardiomyopathy. 18585512

2008
dbSNP: rs794728589
rs794728589
LMNA
A 0.700 CausalMutation CLINVAR Quantitative expression of the mutated lamin A/C gene in patients with cardiolaminopathy. 23062543

2012
dbSNP: rs61672878
rs61672878
LMNA
A 0.700 CausalMutation CLINVAR Emerinopathy and laminopathy clinical, pathological and molecular features of muscular dystrophy with nuclear envelopathy in Japan. 18646565

2007
dbSNP: rs61672878
rs61672878
LMNA
A 0.700 CausalMutation CLINVAR [Case with Emery-Dreifuss muscular dystrophy diagnosed forty-two years after onset and implanted with a cardiac resynchronization therapy defibrillator]. 24990833

2014
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: rs61672878
rs61672878
LMNA
A 0.700 CausalMutation CLINVAR The landscape of genetic variation in dilated cardiomyopathy as surveyed by clinical DNA sequencing. 24503780

2014
dbSNP: rs61672878
rs61672878
LMNA
A 0.700 CausalMutation CLINVAR Gender-specific differences in major cardiac events and mortality in lamin A/C mutation carriers. 23183350

2013
dbSNP: rs61672878
rs61672878
LMNA
A 0.700 CausalMutation CLINVAR Emery-Dreifuss muscular dystrophy type 2 associated (?) with mild peripheral polyneuropathy. 26443318

2015
dbSNP: rs61672878
rs61672878
LMNA
A 0.700 CausalMutation CLINVAR Defects in cell spreading and ERK1/2 activation in fibroblasts with lamin A/C mutations. 19524666

2009
dbSNP: rs61672878
rs61672878
LMNA
A 0.700 CausalMutation CLINVAR MicroRNA expression profiling in patients with lamin A/C-associated muscular dystrophy. 21840938

2011
dbSNP: rs61672878
rs61672878
LMNA
A 0.700 CausalMutation CLINVAR Identification of mutations in the gene encoding lamins A/C in autosomal dominant limb girdle muscular dystrophy with atrioventricular conduction disturbances (LGMD1B). 10814726

2000
dbSNP: rs61672878
rs61672878
LMNA
A 0.700 CausalMutation CLINVAR Inflammatory changes in infantile-onset LMNA-associated myopathy. 21632249

2011
dbSNP: rs61672878
rs61672878
LMNA
A 0.700 CausalMutation CLINVAR An elderly-onset limb girdle muscular dystrophy type 1B (LGMD1B) with pseudo-hypertrophy of paraspinal muscles. 27220833

2016
dbSNP: rs61444459
rs61444459
LMNA
A 0.700 CausalMutation CLINVAR Gender-specific differences in major cardiac events and mortality in lamin A/C mutation carriers. 23183350

2013
dbSNP: rs61444459
rs61444459
LMNA
A 0.700 CausalMutation CLINVAR Laminopathies in Russian families. 18564364

2008
dbSNP: rs61444459
rs61444459
LMNA
A 0.700 CausalMutation CLINVAR UMD (Universal mutation database): a generic software to build and analyze locus-specific databases. 10612827

2000
dbSNP: rs61444459
rs61444459
LMNA
A 0.700 CausalMutation CLINVAR Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. 27532257

2017
dbSNP: rs61444459
rs61444459
LMNA
A 0.700 CausalMutation CLINVAR LMNA variants cause cytoplasmic distribution of nuclear pore proteins in Drosophila and human muscle. 22186027

2012
dbSNP: rs61444459
rs61444459
LMNA
A 0.700 CausalMutation CLINVAR Systematic identification of pathological lamin A interactors. 24623722

2014
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: rs61195471
rs61195471
LMNA
A 0.700 CausalMutation CLINVAR Sumoylation regulates lamin A function and is lost in lamin A mutants associated with familial cardiomyopathies. 18606848

2008
dbSNP: rs61195471
rs61195471
LMNA
A 0.700 CausalMutation CLINVAR Identification of mutational hot spots in LMNA encoding lamin A/C in patients with familial dilated cardiomyopathy. 18795223

2009
dbSNP: rs61195471
rs61195471
LMNA
A 0.700 CausalMutation CLINVAR Missense mutations in the rod domain of the lamin A/C gene as causes of dilated cardiomyopathy and conduction-system disease. 10580070

1999
dbSNP: rs61195471
rs61195471
LMNA
A 0.700 CausalMutation CLINVAR Novel lamin A/C mutations in two families with dilated cardiomyopathy and conduction system disease. 11561226

2001
dbSNP: rs61195471
rs61195471
LMNA
A 0.700 CausalMutation CLINVAR Genetic testing for dilated cardiomyopathy in clinical practice. 22464770

2012