Gene: LMNA ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs11575937
rs11575937
LMNA
A 0.700 CausalMutation CLINVAR The role of LMNA in adipose: a novel mouse model of lipodystrophy based on the Dunnigan-type familial partial lipodystrophy mutation. 19201734

2009
dbSNP: rs11575937
rs11575937
LMNA
A 0.700 CausalMutation CLINVAR Homozygous lamin A/C familial lipodystrophy R482Q mutation in autosomal recessive Emery Dreifuss muscular dystrophy. 23313286

2013
dbSNP: rs11575937
rs11575937
LMNA
A 0.700 CausalMutation CLINVAR LMNA mutations, skeletal muscle lipid metabolism, and insulin resistance. 20130076

2010
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: rs1228406418
rs1228406418
LMNA
A 0.700 CausalMutation CLINVAR Infantile-onset LMNA-associated Muscular Dystrophy Mimicking Juvenile Idiopathic Inflammatory Myopathy. 26034236

2015
dbSNP: rs1228406418
rs1228406418
LMNA
A 0.700 CausalMutation CLINVAR Importance and challenge of making an early diagnosis in LMNA-related muscular dystrophy. 22491857

2012
dbSNP: rs1228406418
rs1228406418
LMNA
A 0.700 CausalMutation CLINVAR Dropped head congenital muscular dystrophy caused by de novo mutations in LMNA. 27876398

2017
dbSNP: rs1228406418
rs1228406418
LMNA
A 0.700 CausalMutation CLINVAR Phenotype-Genotype Analysis of Chinese Patients with Early-Onset LMNA-Related Muscular Dystrophy. 26098624

2015
dbSNP: rs1553265606
rs1553265606
LMNA
A 0.700 GeneticVariation CLINVAR Long-term outcome and risk stratification in dilated cardiolaminopathies. 18926329

2008
dbSNP: rs1553265606
rs1553265606
LMNA
A 0.700 GeneticVariation CLINVAR Lamin A/C mutation analysis in a cohort of 324 unrelated patients with idiopathic or familial dilated cardiomyopathy. 18585512

2008
dbSNP: rs1553265647
rs1553265647
LMNA
A 0.700 CausalMutation CLINVAR

dbSNP: rs1553265733
rs1553265733
LMNA
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1558115970
rs1558115970
LMNA
A 0.700 CausalMutation CLINVAR

dbSNP: rs1558133157
rs1558133157
LMNA
A 0.700 CausalMutation CLINVAR

dbSNP: rs267607552
rs267607552
LMNA
A 0.700 CausalMutation CLINVAR Lamin A/C mutation analysis in a cohort of 324 unrelated patients with idiopathic or familial dilated cardiomyopathy. 18585512

2008
dbSNP: rs267607552
rs267607552
LMNA
A 0.700 CausalMutation CLINVAR Long-term outcome and risk stratification in dilated cardiolaminopathies. 18926329

2008
dbSNP: rs267607561
rs267607561
LMNA
A 0.700 CausalMutation CLINVAR

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: rs267607571
rs267607571
LMNA
A 0.700 CausalMutation CLINVAR Identification of mutational hot spots in LMNA encoding lamin A/C in patients with familial dilated cardiomyopathy. 18795223

2009
dbSNP: rs267607571
rs267607571
LMNA
A 0.700 CausalMutation CLINVAR Morphological analysis of 13 LMNA variants identified in a cohort of 324 unrelated patients with idiopathic or familial dilated cardiomyopathy. 20160190

2010
dbSNP: rs267607571
rs267607571
LMNA
A 0.700 CausalMutation CLINVAR Association between mutation status and left ventricular reverse remodelling in dilated cardiomyopathy. 28416588

2017
dbSNP: rs267607571
rs267607571
LMNA
A 0.700 CausalMutation CLINVAR Viscoelastic behavior of human lamin A proteins in the context of dilated cardiomyopathy. 24386194

2013
dbSNP: rs267607571
rs267607571
LMNA
A 0.700 CausalMutation CLINVAR Structural alterations of Lamin A protein in dilated cardiomyopathy. 23701190

2013
dbSNP: rs267607571
rs267607571
LMNA
A 0.700 CausalMutation CLINVAR Genetic basis of familial dilated cardiomyopathy patients undergoing heart transplantation. 26899768

2016
dbSNP: rs267607578
rs267607578
LMNA
A 0.700 CausalMutation CLINVAR Emerinopathy and laminopathy clinical, pathological and molecular features of muscular dystrophy with nuclear envelopathy in Japan. 18646565

2007