| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
C | 0.700 | GeneticVariation | CLINVAR | ||||||
|
T | 0.800 | CausalMutation | CLINVAR | ||||||
|
C | 0.700 | CausalMutation | CLINVAR | ||||||
|
A | 0.700 | CausalMutation | CLINVAR | ||||||
|
A | 0.700 | CausalMutation | CLINVAR | ||||||
|
T | 0.700 | CausalMutation | CLINVAR | ||||||
|
T | 0.810 | CausalMutation | CLINVAR | Cardiac arrest and left ventricular fibrosis in a Finnish family with the lamin A/C mutation. | 18031519 | 2008 |
|||
|
T | 0.810 | CausalMutation | CLINVAR | Apical left ventricular aneurysm without atrio-ventricular block due to a lamin A/C gene mutation. | 14675861 | 2003 |
|||
|
G | 0.810 | CausalMutation | CLINVAR | ||||||
|
T | 0.810 | GeneticVariation | CLINVAR | Nuclear envelope alterations in fibroblasts from patients with muscular dystrophy, cardiomyopathy, and partial lipodystrophy carrying lamin A/C gene mutations. | 15372542 | 2004 |
|||
|
T | 0.810 | CausalMutation | CLINVAR | Dilated cardiomyopathy with profound segmental wall motion abnormalities and ventricular arrhythmia caused by the R541C mutation in the LMNA gene. | 19167105 | 2010 |
|||
|
T | 0.810 | GeneticVariation | CLINVAR | Laminopathies in Russian families. | 18564364 | 2008 |
|||
|
T | 0.810 | GeneticVariation | CLINVAR | A new c.1621 C > G, p.R541G lamin A/C mutation in a family with DCM and regional wall motion abnormalities (akinesis/dyskinesis): genotype-phenotype correlation. | 21085127 | 2011 |
|||
|
T | 0.810 | GeneticVariation | CLINVAR | We found that end stage DCM patients carrying LMNA mutations displayed either dramatic ultrastructural changes of the cardiomyocyte nucleus (D192G) or nonspecific changes (R541S). | 16061563 | 2005 |
|||
|
T | 0.810 | GeneticVariation | CLINVAR | High yield of LMNA mutations in patients with dilated cardiomyopathy and/or conduction disease referred to cardiogenetics outpatient clinics. | 18035086 | 2007 |
|||
|
C | 0.700 | CausalMutation | CLINVAR | ||||||
|
T | 0.700 | GeneticVariation | CLINVAR | ||||||
|
T | 0.700 | CausalMutation | CLINVAR | ||||||
|
T | 0.700 | CausalMutation | CLINVAR | ||||||
|
A | 0.810 | CausalMutation | CLINVAR | ||||||
|
G | 0.800 | CausalMutation | CLINVAR | ||||||
|
G | 0.800 | CausalMutation | CLINVAR | ||||||
|
G | 0.800 | CausalMutation | CLINVAR | ||||||
|
G | 0.800 | CausalMutation | CLINVAR | ||||||
|
G | 0.700 | CausalMutation | CLINVAR |