Variant Gene Disease Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs57629361
rs57629361
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)
0.800 GeneticVariation CLINVAR A Standardized DNA Variant Scoring System for Pathogenicity Assessments in Mendelian Disorders. 26467025

2016

dbSNP: rs57629361
rs57629361
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)
0.800 CausalMutation CLINVAR Effect of ivacaftor on CFTR forms with missense mutations associated with defects in protein processing or function. 23891399

2014

dbSNP: rs57629361
rs57629361
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)
0.800 GeneticVariation CLINVAR Congenital fiber type disproportion myopathy caused by LMNA mutations. 24642510

2014

dbSNP: rs57629361
rs57629361
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)
0.800 GeneticVariation CLINVAR Myopathic lamin mutations impair nuclear stability in cells and tissue and disrupt nucleo-cytoskeletal coupling. 23427149

2013

dbSNP: rs57629361
rs57629361
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)
0.800 GeneticVariation UNIPROT Novel LMNA mutations in patients with Emery-Dreifuss muscular dystrophy and functional characterization of four LMNA mutations. 20848652

2011

dbSNP: rs57629361
rs57629361
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)
0.800 GeneticVariation CLINVAR Specific phosphorylation of Ser458 of A-type lamins in LMNA-associated myopathy patients. 20980393

2011

dbSNP: rs57629361
rs57629361
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)
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
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)
0.800 GeneticVariation CLINVAR Phenotypic clustering of lamin A/C mutations in neuromuscular patients. 17377071

2007

dbSNP: rs57629361
rs57629361
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)
0.800 GeneticVariation CLINVAR Cardiac features of Emery-Dreifuss muscular dystrophy caused by lamin A/C gene mutations. 14659775

2004

dbSNP: rs57629361
rs57629361
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)
0.800 GeneticVariation UNIPROT Mutation analysis of the lamin A/C gene (LMNA) among patients with different cardiomuscular phenotypes. 14684700

2004

dbSNP: rs57629361
rs57629361
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)
0.800 GeneticVariation UNIPROT Properties of lamin A mutants found in Emery-Dreifuss muscular dystrophy, cardiomyopathy and Dunnigan-type partial lipodystrophy. 11792809

2002

dbSNP: rs57629361
rs57629361
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)
0.800 GeneticVariation CLINVAR Properties of lamin A mutants found in Emery-Dreifuss muscular dystrophy, cardiomyopathy and Dunnigan-type partial lipodystrophy. 11792809

2002

dbSNP: rs57629361
rs57629361
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)
0.800 GeneticVariation CLINVAR Structure of the globular tail of nuclear lamin. 11901143

2002

dbSNP: rs57629361
rs57629361
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)
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
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)
0.800 GeneticVariation UNIPROT Different mutations in the LMNA gene cause autosomal dominant and autosomal recessive Emery-Dreifuss muscular dystrophy. 10739764

2000

dbSNP: rs57629361
rs57629361
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)
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
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)
0.800 GeneticVariation UNIPROT 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
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)
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