Gene: LMNA ×
Source: INFERRED ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057515421
rs1057515421
LMNA
T 0.700 CausalMutation CLINVAR Family Based Whole Exome Sequencing Reveals the Multifaceted Role of Notch Signaling in Congenital Heart Disease. 27760138

2016
dbSNP: rs1057515421
rs1057515421
LMNA
T 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

dbSNP: rs1165819867
rs1165819867
LMNA
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1553265180
rs1553265180
LMNA
G 0.700 GeneticVariation CLINVAR

dbSNP: rs1553265736
rs1553265736
LMNA
C 0.700 GeneticVariation CLINVAR

dbSNP: rs1553265739
rs1553265739
LMNA
T 0.700 GeneticVariation CLINVAR

dbSNP: rs267607570
rs267607570
LMNA
C 0.800 GeneticVariation CLINVAR

dbSNP: rs267607578
rs267607578
LMNA
A 0.810 GeneticVariation CLINVAR The presumed pathogenic mutations were distributed with one case of suspected HCM and DCM (MYH7; p.R442H), one case of suspected DCM (LMNA; p.R471H), and two cases of suspected ARVC (PKP2; p.R79X and LMNA; p.R644C). 22177269

2012
dbSNP: rs267607578
rs267607578
LMNA
A 0.810 GeneticVariation CLINVAR Mapping disease-related missense mutations in the immunoglobulin-like fold domain of lamin A/C reveals novel genotype-phenotype associations for laminopathies. 24375749

2014
dbSNP: rs267607578
rs267607578
LMNA
A 0.810 GeneticVariation CLINVAR Gender-specific differences in major cardiac events and mortality in lamin A/C mutation carriers. 23183350

2013
dbSNP: rs267607578
rs267607578
LMNA
A 0.810 GeneticVariation CLINVAR Morphological analysis of 13 LMNA variants identified in a cohort of 324 unrelated patients with idiopathic or familial dilated cardiomyopathy. 20160190

2010
dbSNP: rs267607578
rs267607578
LMNA
A 0.810 GeneticVariation CLINVAR Lamin A/C mutation analysis in a cohort of 324 unrelated patients with idiopathic or familial dilated cardiomyopathy. 18585512

2008
dbSNP: rs267607578
rs267607578
LMNA
A 0.810 GeneticVariation CLINVAR Emerinopathy and laminopathy clinical, pathological and molecular features of muscular dystrophy with nuclear envelopathy in Japan. 18646565

2007
dbSNP: rs267607578
rs267607578
LMNA
A 0.810 GeneticVariation CLINVAR The landscape of genetic variation in dilated cardiomyopathy as surveyed by clinical DNA sequencing. 24503780

2014
dbSNP: rs267607578
rs267607578
LMNA
A 0.810 GeneticVariation CLINVAR Systematic identification of pathological lamin A interactors. 24623722

2014
dbSNP: rs267607581
rs267607581
LMNA
G 0.700 CausalMutation CLINVAR

dbSNP: rs28928900
rs28928900
LMNA
G 0.800 CausalMutation CLINVAR

dbSNP: rs28933090
rs28933090
LMNA
G 0.800 CausalMutation CLINVAR

dbSNP: rs28933091
rs28933091
LMNA
G 0.800 CausalMutation CLINVAR

dbSNP: rs28933092
rs28933092
LMNA
G 0.800 CausalMutation CLINVAR

dbSNP: rs28933093
rs28933093
LMNA
A 0.810 CausalMutation CLINVAR

dbSNP: rs386134243
rs386134243
LMNA
T 0.700 CausalMutation CLINVAR

dbSNP: rs397517889
rs397517889
LMNA
T 0.700 GeneticVariation CLINVAR

dbSNP: rs397517889
rs397517889
LMNA
T 0.700 CausalMutation CLINVAR