| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
A | 0.710 | CausalMutation | CLINVAR | Next-Generation Sequencing to Diagnose Muscular Dystrophy, Rhabdomyolysis, and HyperCKemia. | 29382405 | 2018 |
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|
0.710 | GeneticVariation | BEFREE | A mutation in the gene encoding Lamin A/C (LMNA<sub>p.R331Q</sub> ) led to reduced maximal force development through secondary disease remodelling in patients suffering from dilated cardiomyopathy. | 28436080 | 2017 |
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|
A | 0.710 | CausalMutation | CLINVAR | Lamin A/C-Related Cardiac Disease: Late Onset With a Variable and Mild Phenotype in a Large Cohort of Patients With the Lamin A/C p.(Arg331Gln) Founder Mutation. | 28790152 | 2017 |
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|
A | 0.710 | CausalMutation | CLINVAR | Massive parallel sequencing questions the pathogenic role of missense variants in dilated cardiomyopathy. | 27886618 | 2017 |
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|
A | 0.710 | CausalMutation | CLINVAR | Prognostic Relevance of Gene-Environment Interactions in Patients With Dilated Cardiomyopathy: Applying the MOGE(S) Classification. | 26383716 | 2015 |
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|
A | 0.710 | CausalMutation | CLINVAR | Disease-associated mutations in the coil 2B domain of human lamin A/C affect structural properties that mediate dimerization and intermediate filament formation. | 23142632 | 2013 |
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|
A | 0.710 | CausalMutation | CLINVAR | Genetic analysis in 418 index patients with idiopathic dilated cardiomyopathy: overview of 10 years' experience. | 23349452 | 2013 |
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|
A | 0.710 | CausalMutation | CLINVAR | The role of Lamin A/C mutations in Danish patients with idiopathic dilated cardiomyopathy. | 19875404 | 2009 |
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|
A | 0.710 | CausalMutation | CLINVAR | Phenotypic clustering of lamin A/C mutations in neuromuscular patients. | 17377071 | 2007 |