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 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: rs1060502211
rs1060502211
LMNA
T 0.700 CausalMutation CLINVAR Gender-specific differences in major cardiac events and mortality in lamin A/C mutation carriers. 23183350

2013
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: 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 De novo LMNA mutations cause a new form of congenital muscular dystrophy. 18551513

2008
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: rs121912496
rs121912496
LMNA
T 0.700 CausalMutation CLINVAR "Two children with ""dropped head"" syndrome due to lamin A/C mutations." 20886652

2010
dbSNP: rs121912496
rs121912496
LMNA
T 0.700 CausalMutation CLINVAR Novel LMNA mutations in patients with Emery-Dreifuss muscular dystrophy and functional characterization of four LMNA mutations. 20848652

2011
dbSNP: rs121912496
rs121912496
LMNA
T 0.700 CausalMutation CLINVAR Inflammatory changes in infantile-onset LMNA-associated myopathy. 21632249

2011
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 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: rs1340894696
rs1340894696
LMNA
G 0.700 CausalMutation CLINVAR Phenotype-Genotype Analysis of Chinese Patients with Early-Onset LMNA-Related Muscular Dystrophy. 26098624

2015
dbSNP: rs150840924
rs150840924
LMNA
T 0.700 CausalMutation CLINVAR Progeroid syndrome with scleroderma-like skin changes associated with homozygous R435C LMNA mutation. 19842191

2009
dbSNP: rs150840924
rs150840924
LMNA
T 0.700 CausalMutation CLINVAR Autosomal recessive LMNA mutation causing restrictive dermopathy. 20662858

2010
dbSNP: rs150840924
rs150840924
LMNA
T 0.700 CausalMutation CLINVAR Systematic identification of pathological lamin A interactors. 24623722

2014
dbSNP: rs150840924
rs150840924
LMNA
T 0.700 CausalMutation CLINVAR Mutation analysis of the lamin A/C gene (LMNA) among patients with different cardiomuscular phenotypes. 14684700

2003