Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs58932704
rs58932704
T 0.810 CausalMutation CLINVAR

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

2014

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

2013

dbSNP: rs121912496
rs121912496
T 0.800 CausalMutation CLINVAR Novel LMNA mutations in patients with Emery-Dreifuss muscular dystrophy and functional characterization of four LMNA mutations. 20848652

2011

dbSNP: rs57629361
rs57629361
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: rs121912496
rs121912496
T 0.800 CausalMutation CLINVAR "Two children with ""dropped head"" syndrome due to lamin A/C mutations." 20886652

2010

dbSNP: rs57207746
rs57207746
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: rs57629361
rs57629361
A 0.800 GeneticVariation CLINVAR Specific phosphorylation of Ser458 of A-type lamins in LMNA-associated myopathy patients. 20980393

2010

dbSNP: rs121912496
rs121912496
T 0.800 CausalMutation CLINVAR De novo LMNA mutations cause a new form of congenital muscular dystrophy. 18551513

2008

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

2007

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

2006

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

2003

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

2002

dbSNP: rs57629361
rs57629361
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: rs57207746
rs57207746
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
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
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
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: rs57520892
rs57520892
C 0.800 CausalMutation CLINVAR

dbSNP: rs60934003
rs60934003
C 0.800 CausalMutation CLINVAR

dbSNP: rs28933091
rs28933091
G 0.710 CausalMutation CLINVAR

dbSNP: rs61672878
rs61672878
A 0.710 CausalMutation CLINVAR

dbSNP: rs878853220
rs878853220
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
A 0.700 CausalMutation CLINVAR Hypoplasia of the aorta in a patient diagnosed with LMNA gene mutation. 22883396

2014

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

2013