Gene: LMNA ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1553261855
rs1553261855
LMNA
GCT 0.700 CausalMutation CLINVAR Atlas of the clinical genetics of human dilated cardiomyopathy. 25163546

2015
dbSNP: rs1553261891
rs1553261891
LMNA
G 0.700 GeneticVariation CLINVAR

dbSNP: rs1553261982
rs1553261982
LMNA
GCCGA 0.700 CausalMutation CLINVAR

dbSNP: rs1553264593
rs1553264593
LMNA
T 0.700 CausalMutation CLINVAR

dbSNP: rs1553265165
rs1553265165
LMNA
T 0.700 CausalMutation CLINVAR

dbSNP: rs1553265328
rs1553265328
LMNA
AT 0.700 CausalMutation CLINVAR

dbSNP: rs1553265342
rs1553265342
LMNA
TT 0.700 CausalMutation CLINVAR Defects in cell spreading and ERK1/2 activation in fibroblasts with lamin A/C mutations. 19524666

2009
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: rs1553265342
rs1553265342
LMNA
TT 0.700 CausalMutation CLINVAR Novel LMNA mutations in patients with Emery-Dreifuss muscular dystrophy and functional characterization of four LMNA mutations. 20848652

2011
dbSNP: rs1553265342
rs1553265342
LMNA
TT 0.700 CausalMutation CLINVAR Cellular microenvironments reveal defective mechanosensing responses and elevated YAP signaling in LMNA-mutated muscle precursors. 24806962

2014
dbSNP: rs1553265342
rs1553265342
LMNA
TT 0.700 CausalMutation CLINVAR Phenotype-Genotype Analysis of Chinese Patients with Early-Onset LMNA-Related Muscular Dystrophy. 26098624

2015
dbSNP: rs1553265342
rs1553265342
LMNA
TT 0.700 CausalMutation CLINVAR Specific phosphorylation of Ser458 of A-type lamins in LMNA-associated myopathy patients. 20980393

2010
dbSNP: rs1553265342
rs1553265342
LMNA
TT 0.700 CausalMutation CLINVAR De novo LMNA mutations cause a new form of congenital muscular dystrophy. 18551513

2008
dbSNP: rs1553265342
rs1553265342
LMNA
TT 0.700 CausalMutation CLINVAR "Two children with ""dropped head"" syndrome due to lamin A/C mutations." 20886652

2010
dbSNP: rs1553265342
rs1553265342
LMNA
TT 0.700 CausalMutation CLINVAR Hypoplasia of the aorta in a patient diagnosed with LMNA gene mutation. 22883396

2014
dbSNP: rs1553265342
rs1553265342
LMNA
TT 0.700 CausalMutation CLINVAR Congenital muscular dystrophy with dropped head linked to the LMNA gene in a Brazilian cohort. 24508248

2014
dbSNP: rs1553265342
rs1553265342
LMNA
TT 0.700 CausalMutation CLINVAR Inflammatory changes in infantile-onset LMNA-associated myopathy. 21632249

2011
dbSNP: rs1553265455
rs1553265455
LMNA
T 0.700 CausalMutation CLINVAR

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: rs1553265660
rs1553265660
LMNA
G 0.700 CausalMutation CLINVAR

dbSNP: rs1553265733
rs1553265733
LMNA
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1553265760
rs1553265760
LMNA
G 0.700 CausalMutation CLINVAR N-terminal Pro brain natriuretic peptide is a reliable biomarker of reduced myocardial contractility in patients with lamin A/C gene mutations. 20627339

2011
dbSNP: rs1553265760
rs1553265760
LMNA
G 0.700 CausalMutation CLINVAR Blood glutathione decrease in subjects carrying lamin A/C gene mutations is an early marker of cardiac involvement. 22071332

2012