Gene: LMNA ×
Source: INFERRED ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs57207746
rs57207746
LMNA
A 0.800 GeneticVariation CLINVAR Lamin A rod domain mutants target heterochromatin protein 1alpha and beta for proteasomal degradation by activation of F-box protein, FBXW10. 20498703

2010
dbSNP: rs57207746
rs57207746
LMNA
A 0.800 GeneticVariation 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: rs57207746
rs57207746
LMNA
A 0.800 GeneticVariation CLINVAR Expression of disease-causing lamin A mutants impairs the formation of DNA repair foci. 16772334

2006
dbSNP: rs57629361
rs57629361
LMNA
A 0.800 GeneticVariation CLINVAR Myopathic lamin mutations impair nuclear stability in cells and tissue and disrupt nucleo-cytoskeletal coupling. 23427149

2013
dbSNP: rs57629361
rs57629361
LMNA
A 0.800 GeneticVariation CLINVAR Cardiac features of Emery-Dreifuss muscular dystrophy caused by lamin A/C gene mutations. 14659775

2003
dbSNP: rs57629361
rs57629361
LMNA
A 0.800 GeneticVariation CLINVAR Specific phosphorylation of Ser458 of A-type lamins in LMNA-associated myopathy patients. 20980393

2010
dbSNP: rs57629361
rs57629361
LMNA
A 0.800 GeneticVariation CLINVAR Structure of the globular tail of nuclear lamin. 11901143

2002
dbSNP: rs57629361
rs57629361
LMNA
A 0.800 GeneticVariation CLINVAR Properties of lamin A mutants found in Emery-Dreifuss muscular dystrophy, cardiomyopathy and Dunnigan-type partial lipodystrophy. 11792809

2001
dbSNP: rs57629361
rs57629361
LMNA
A 0.800 GeneticVariation 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: rs57629361
rs57629361
LMNA
A 0.800 GeneticVariation CLINVAR Lamin A variants that cause striated muscle disease are defective in anchoring transmembrane actin-associated nuclear lines for nuclear movement. 21173262

2011
dbSNP: rs57629361
rs57629361
LMNA
A 0.800 GeneticVariation CLINVAR Congenital fiber type disproportion myopathy caused by LMNA mutations. 24642510

2014
dbSNP: rs57629361
rs57629361
LMNA
A 0.800 GeneticVariation CLINVAR Different mutations in the LMNA gene cause autosomal dominant and autosomal recessive Emery-Dreifuss muscular dystrophy. 10739764

2000
dbSNP: rs57629361
rs57629361
LMNA
A 0.800 GeneticVariation CLINVAR In situ hybridization detection of HTLV-I RNA in peripheral blood mononuclear cells of TSP/HAM patients and their spouses. 1849984

1991
dbSNP: rs57629361
rs57629361
LMNA
A 0.800 GeneticVariation CLINVAR Phenotypic clustering of lamin A/C mutations in neuromuscular patients. 17377071

2007
dbSNP: rs61672878
rs61672878
LMNA
A 0.710 CausalMutation CLINVAR

dbSNP: rs11575937
rs11575937
LMNA
A 0.700 CausalMutation CLINVAR

dbSNP: rs58048078
rs58048078
LMNA
A 0.700 CausalMutation CLINVAR

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 Specific phosphorylation of Ser458 of A-type lamins in LMNA-associated myopathy patients. 20980393

2010
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: 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 Hypoplasia of the aorta in a patient diagnosed with LMNA gene mutation. 22883396

2014
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 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