Gene: LMNA ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs886043109
rs886043109
LMNA
A 0.700 GeneticVariation CLINVAR Specific phosphorylation of Ser458 of A-type lamins in LMNA-associated myopathy patients. 20980393

2010
dbSNP: rs886043109
rs886043109
LMNA
A 0.700 GeneticVariation CLINVAR New metabolic phenotypes in laminopathies: LMNA mutations in patients with severe metabolic syndrome. 17711925

2007
dbSNP: rs886043109
rs886043109
LMNA
A 0.700 GeneticVariation 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
dbSNP: rs886043109
rs886043109
LMNA
A 0.700 GeneticVariation CLINVAR Inflammatory changes in infantile-onset LMNA-associated myopathy. 21632249

2011
dbSNP: rs879253934
rs879253934
LMNA
C 0.700 GeneticVariation CLINVAR

dbSNP: rs878855234
rs878855234
LMNA
T 0.700 CausalMutation CLINVAR

dbSNP: rs869125101
rs869125101
LMNA
A 0.700 GeneticVariation CLINVAR Long-term outcome and risk stratification in dilated cardiolaminopathies. 18926329

2008
dbSNP: rs869125101
rs869125101
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: rs864309525
rs864309525
LMNA
C 0.700 CausalMutation CLINVAR Phenotype-Genotype Analysis of Chinese Patients with Early-Onset LMNA-Related Muscular Dystrophy. 26098624

2015
dbSNP: rs864309525
rs864309525
LMNA
C 0.700 CausalMutation CLINVAR Importance and challenge of making an early diagnosis in LMNA-related muscular dystrophy. 22491857

2012
dbSNP: rs864309525
rs864309525
LMNA
C 0.700 CausalMutation CLINVAR Dropped head congenital muscular dystrophy caused by de novo mutations in LMNA. 27876398

2017
dbSNP: rs797044758
rs797044758
LMNA
CA 0.700 CausalMutation CLINVAR

dbSNP: rs794728605
rs794728605
LMNA
TGGTCACCTGAGAG 0.700 CausalMutation CLINVAR

dbSNP: rs794728598
rs794728598
LMNA
A 0.700 CausalMutation CLINVAR Specific phosphorylation of Ser458 of A-type lamins in LMNA-associated myopathy patients. 20980393

2010
dbSNP: rs794728598
rs794728598
LMNA
A 0.700 CausalMutation CLINVAR De novo LMNA mutations cause a new form of congenital muscular dystrophy. 18551513

2008
dbSNP: rs794728598
rs794728598
LMNA
A 0.700 CausalMutation CLINVAR Inflammatory changes in infantile-onset LMNA-associated myopathy. 21632249

2011
dbSNP: rs794728598
rs794728598
LMNA
A 0.700 CausalMutation CLINVAR Phenotypic clustering of lamin A/C mutations in neuromuscular patients. 17377071

2007
dbSNP: rs794728598
rs794728598
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: rs794728591
rs794728591
LMNA
T 0.700 CausalMutation CLINVAR The clinical outcome of LMNA missense mutations can be associated with the amount of mutated protein in the nuclear envelope. 29943882

2018
dbSNP: rs794728591
rs794728591
LMNA
T 0.700 CausalMutation CLINVAR Multicenter Experience With Catheter Ablation for Ventricular Tachycardia in Lamin A/C Cardiomyopathy. 27506821

2016
dbSNP: rs794728591
rs794728591
LMNA
T 0.700 CausalMutation CLINVAR Gene-Based Risk Stratification for Cardiac Disorders in LMNA Mutation Carriers. 29237675

2017
dbSNP: rs794728591
rs794728591
LMNA
T 0.700 CausalMutation CLINVAR Gender-specific differences in major cardiac events and mortality in lamin A/C mutation carriers. 23183350

2013
dbSNP: rs794728591
rs794728591
LMNA
T 0.700 CausalMutation CLINVAR Genetic Mechanisms Contribute to the Development of Heart Failure in Patients with Atrioventricular Block and Right Ventricular Apical Pacing. 28878402

2017
dbSNP: rs794728589
rs794728589
LMNA
A 0.700 CausalMutation CLINVAR Long-term outcome and risk stratification in dilated cardiolaminopathies. 18926329

2008
dbSNP: rs794728589
rs794728589
LMNA
A 0.700 CausalMutation CLINVAR Gender-specific differences in major cardiac events and mortality in lamin A/C mutation carriers. 23183350

2013