Gene: LMNA ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs58932704
rs58932704
LMNA
0.810 GeneticVariation UNIPROT Improved diagnostic yield of neuromuscular disorders applying clinical exome sequencing in patients arising from a consanguineous population. 27234031

2017
dbSNP: rs58932704
rs58932704
LMNA
0.810 GeneticVariation UNIPROT Autosomal recessive Emery-Dreifuss muscular dystrophy caused by a novel mutation (R225Q) in the lamin A/C gene identified by exome sequencing. 22431096

2012
dbSNP: rs58932704
rs58932704
LMNA
0.810 GeneticVariation BEFREE Overexpression of the EDMD lamin A R453W mutation in C2C12 myoblasts impairs myogenic differentiation. 18396274

2008
dbSNP: rs58932704
rs58932704
LMNA
T 0.810 CausalMutation CLINVAR

dbSNP: rs121912496
rs121912496
LMNA
0.800 GeneticVariation UNIPROT Improved diagnostic yield of neuromuscular disorders applying clinical exome sequencing in patients arising from a consanguineous population. 27234031

2017
dbSNP: rs57207746
rs57207746
LMNA
0.800 GeneticVariation UNIPROT Improved diagnostic yield of neuromuscular disorders applying clinical exome sequencing in patients arising from a consanguineous population. 27234031

2017
dbSNP: rs57520892
rs57520892
LMNA
0.800 GeneticVariation UNIPROT Improved diagnostic yield of neuromuscular disorders applying clinical exome sequencing in patients arising from a consanguineous population. 27234031

2017
dbSNP: rs60934003
rs60934003
LMNA
0.800 GeneticVariation UNIPROT Improved diagnostic yield of neuromuscular disorders applying clinical exome sequencing in patients arising from a consanguineous population. 27234031

2017
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 Myopathic lamin mutations impair nuclear stability in cells and tissue and disrupt nucleo-cytoskeletal coupling. 23427149

2013
dbSNP: rs121912496
rs121912496
LMNA
0.800 GeneticVariation UNIPROT Autosomal recessive Emery-Dreifuss muscular dystrophy caused by a novel mutation (R225Q) in the lamin A/C gene identified by exome sequencing. 22431096

2012
dbSNP: rs57207746
rs57207746
LMNA
0.800 GeneticVariation UNIPROT Autosomal recessive Emery-Dreifuss muscular dystrophy caused by a novel mutation (R225Q) in the lamin A/C gene identified by exome sequencing. 22431096

2012
dbSNP: rs57520892
rs57520892
LMNA
0.800 GeneticVariation UNIPROT Autosomal recessive Emery-Dreifuss muscular dystrophy caused by a novel mutation (R225Q) in the lamin A/C gene identified by exome sequencing. 22431096

2012
dbSNP: rs60934003
rs60934003
LMNA
0.800 GeneticVariation UNIPROT Autosomal recessive Emery-Dreifuss muscular dystrophy caused by a novel mutation (R225Q) in the lamin A/C gene identified by exome sequencing. 22431096

2012
dbSNP: rs121912496
rs121912496
LMNA
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
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: rs121912496
rs121912496
LMNA
T 0.800 CausalMutation CLINVAR "Two children with ""dropped head"" syndrome due to lamin A/C mutations." 20886652

2010
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: rs57629361
rs57629361
LMNA
A 0.800 GeneticVariation CLINVAR Specific phosphorylation of Ser458 of A-type lamins in LMNA-associated myopathy patients. 20980393

2010
dbSNP: rs121912496
rs121912496
LMNA
T 0.800 CausalMutation CLINVAR De novo LMNA mutations cause a new form of congenital muscular dystrophy. 18551513

2008
dbSNP: rs57629361
rs57629361
LMNA
A 0.800 GeneticVariation CLINVAR Phenotypic clustering of lamin A/C mutations in neuromuscular patients. 17377071

2007
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 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 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