Gene: LMNA ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs878855234
rs878855234
LMNA
T 0.700 CausalMutation CLINVAR

dbSNP: rs879253934
rs879253934
LMNA
C 0.700 GeneticVariation CLINVAR

dbSNP: rs58932704
rs58932704
LMNA
T 0.700 CausalMutation CLINVAR Contact sensitivity to phenylbutazone (Butazolidine) cream. 1839274

1991
dbSNP: rs60682848
rs60682848
LMNA
T 0.700 CausalMutation CLINVAR [Urinary incontinence in women is treated differently depending on the type]. 2280636

1990
dbSNP: rs57520892
rs57520892
LMNA
C 0.700 CausalMutation CLINVAR Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy. 10080180

1999
dbSNP: rs57520892
rs57520892
LMNA
A 0.700 CausalMutation CLINVAR Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy. 10080180

1999
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: rs11575937
rs11575937
LMNA
A 0.700 CausalMutation CLINVAR Nuclear lamin A/C R482Q mutation in canadian kindreds with Dunnigan-type familial partial lipodystrophy. 10587585

2000
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: rs1553265342
rs1553265342
LMNA
TT 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 Different mutations in the LMNA gene cause autosomal dominant and autosomal recessive Emery-Dreifuss muscular dystrophy. 10739764

2000
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: rs267607599
rs267607599
LMNA
G 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: rs60458016
rs60458016
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: rs60864230
rs60864230
LMNA
A 0.700 CausalMutation CLINVAR Novel and recurrent mutations in lamin A/C in patients with Emery-Dreifuss muscular dystrophy. 11503164

2001
dbSNP: rs60682848
rs60682848
LMNA
T 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 Novel lamin A/C mutations in two families with dilated cardiomyopathy and conduction system disease. 11561226

2001
dbSNP: rs28933091
rs28933091
LMNA
G 0.700 CausalMutation CLINVAR Properties of lamin A mutants found in Emery-Dreifuss muscular dystrophy, cardiomyopathy and Dunnigan-type partial lipodystrophy. 11792809

2001
dbSNP: rs60458016
rs60458016
LMNA
A 0.700 CausalMutation CLINVAR Properties of lamin A mutants found in Emery-Dreifuss muscular dystrophy, cardiomyopathy and Dunnigan-type partial lipodystrophy. 11792809

2001
dbSNP: rs28933091
rs28933091
LMNA
G 0.700 CausalMutation CLINVAR Nuclear envelope defects associated with LMNA mutations cause dilated cardiomyopathy and Emery-Dreifuss muscular dystrophy. 11792810

2001
dbSNP: rs267607571
rs267607571
LMNA
A 0.700 CausalMutation CLINVAR Autosomal dominant dilated cardiomyopathy with atrioventricular block: a lamin A/C defect-related disease. 11897440

2002
dbSNP: rs56816490
rs56816490
LMNA
A 0.700 CausalMutation CLINVAR Autosomal dominant dilated cardiomyopathy with atrioventricular block: a lamin A/C defect-related disease. 11897440

2002
dbSNP: rs59026483
rs59026483
LMNA
T 0.700 CausalMutation CLINVAR Autosomal dominant dilated cardiomyopathy with atrioventricular block: a lamin A/C defect-related disease. 11897440

2002
dbSNP: rs267607599
rs267607599
LMNA
G 0.700 CausalMutation CLINVAR Emery-Dreifuss muscular dystrophy. 11973618

2002
dbSNP: rs59914820
rs59914820
LMNA
T 0.700 CausalMutation CLINVAR Multisystem dystrophy syndrome due to novel missense mutations in the amino-terminal head and alpha-helical rod domains of the lamin A/C gene. 12015247

2002