Gene: LMNA ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs267607571
rs267607571
LMNA
A 0.700 CausalMutation CLINVAR Genetic basis of familial dilated cardiomyopathy patients undergoing heart transplantation. 26899768

2016
dbSNP: rs57508089
rs57508089
LMNA
T 0.700 CausalMutation CLINVAR Multicenter Experience With Catheter Ablation for Ventricular Tachycardia in Lamin A/C Cardiomyopathy. 27506821

2016
dbSNP: rs61672878
rs61672878
LMNA
A 0.700 CausalMutation CLINVAR An elderly-onset limb girdle muscular dystrophy type 1B (LGMD1B) with pseudo-hypertrophy of paraspinal muscles. 27220833

2016
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: rs121912496
rs121912496
LMNA
T 0.700 CausalMutation CLINVAR Phenotype-Genotype Analysis of Chinese Patients with Early-Onset LMNA-Related Muscular Dystrophy. 26098624

2015
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 Phenotype-Genotype Analysis of Chinese Patients with Early-Onset LMNA-Related Muscular Dystrophy. 26098624

2015
dbSNP: rs1340894696
rs1340894696
LMNA
G 0.700 CausalMutation CLINVAR Phenotype-Genotype Analysis of Chinese Patients with Early-Onset LMNA-Related Muscular Dystrophy. 26098624

2015
dbSNP: rs1553261855
rs1553261855
LMNA
GCT 0.700 CausalMutation CLINVAR Atlas of the clinical genetics of human dilated cardiomyopathy. 25163546

2015
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: rs267607555
rs267607555
LMNA
T 0.700 CausalMutation CLINVAR Atlas of the clinical genetics of human dilated cardiomyopathy. 25163546

2015
dbSNP: rs267607570
rs267607570
LMNA
C 0.700 CausalMutation CLINVAR Genetics and genotype-phenotype correlations in Finnish patients with dilated cardiomyopathy. 26084686

2015
dbSNP: rs267607599
rs267607599
LMNA
G 0.700 CausalMutation CLINVAR Myopathic lamin mutations cause reductive stress and activate the nrf2/keap-1 pathway. 25996830

2015
dbSNP: rs267607623
rs267607623
LMNA
T 0.700 CausalMutation CLINVAR A novel lamin A/C gene mutation causing spinal muscular atrophy phenotype with cardiac involvement: report of one case. 25886484

2015
dbSNP: rs267607637
rs267607637
LMNA
A 0.700 CausalMutation CLINVAR Myopathic lamin mutations cause reductive stress and activate the nrf2/keap-1 pathway. 25996830

2015
dbSNP: rs57520892
rs57520892
LMNA
A 0.700 CausalMutation CLINVAR Modulation of TGFbeta 2 levels by lamin A in U2-OS osteoblast-like cells: understanding the osteolytic process triggered by altered lamins. 25823658

2015
dbSNP: rs59026483
rs59026483
LMNA
T 0.700 CausalMutation CLINVAR Targeted Next-Generation Sequencing Reveals Hot Spots and Doubly Heterozygous Mutations in Chinese Patients with Familial Cardiomyopathy. 26199943

2015
dbSNP: rs61672878
rs61672878
LMNA
A 0.700 CausalMutation CLINVAR Emery-Dreifuss muscular dystrophy type 2 associated (?) with mild peripheral polyneuropathy. 26443318

2015
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: rs121912496
rs121912496
LMNA
T 0.700 CausalMutation CLINVAR Cellular microenvironments reveal defective mechanosensing responses and elevated YAP signaling in LMNA-mutated muscle precursors. 24806962

2014
dbSNP: rs121912496
rs121912496
LMNA
T 0.700 CausalMutation CLINVAR Congenital muscular dystrophy with dropped head linked to the LMNA gene in a Brazilian cohort. 24508248

2014
dbSNP: rs121912496
rs121912496
LMNA
T 0.700 CausalMutation CLINVAR Phenotypic intermediate forms overlapping to Emery-Dreifuss and limb girdle muscular dystrophies caused by lamin A/C gene mutations. 24656463

2014
dbSNP: rs150840924
rs150840924
LMNA
T 0.700 CausalMutation CLINVAR Systematic identification of pathological lamin A interactors. 24623722

2014
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 Hypoplasia of the aorta in a patient diagnosed with LMNA gene mutation. 22883396

2014