Source: INFERRED ×
| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
T | 0.810 | CausalMutation | CLINVAR | ||||||
|
T | 0.800 | CausalMutation | CLINVAR | De novo LMNA mutations cause a new form of congenital muscular dystrophy. | 18551513 | 2008 |
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|
T | 0.800 | CausalMutation | CLINVAR | "Two children with ""dropped head"" syndrome due to lamin A/C mutations." | 20886652 | 2010 |
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|
T | 0.800 | CausalMutation | CLINVAR | Novel LMNA mutations in patients with Emery-Dreifuss muscular dystrophy and functional characterization of four LMNA mutations. | 20848652 | 2011 |
|||
|
T | 0.700 | CausalMutation | CLINVAR | ||||||
|
T | 0.700 | CausalMutation | CLINVAR | ||||||
|
T | 0.700 | CausalMutation | CLINVAR | ||||||
|
T | 0.700 | CausalMutation | CLINVAR | ||||||
|
G | 0.710 | CausalMutation | CLINVAR | ||||||
|
G | 0.700 | CausalMutation | CLINVAR | New intronic splicing mutation in the LMNA gene causing progressive cardiac conduction defects and variable myopathy. | 27717888 | 2016 |
|||
|
C | 0.800 | CausalMutation | CLINVAR | ||||||
|
C | 0.800 | CausalMutation | CLINVAR | ||||||
|
C | 0.700 | GeneticVariation | CLINVAR | ||||||
|
C | 0.700 | CausalMutation | CLINVAR | ||||||
|
C | 0.700 | CausalMutation | CLINVAR | ||||||
|
C | 0.700 | CausalMutation | CLINVAR | ||||||
|
C | 0.700 | CausalMutation | CLINVAR | ||||||
|
C | 0.700 | CausalMutation | CLINVAR | ||||||
|
C | 0.700 | CausalMutation | CLINVAR | Genetic analysis in 418 index patients with idiopathic dilated cardiomyopathy: overview of 10 years' experience. | 23349452 | 2013 |
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|
A | 0.800 | GeneticVariation | CLINVAR | Lamin A rod domain mutants target heterochromatin protein 1alpha and beta for proteasomal degradation by activation of F-box protein, FBXW10. | 20498703 | 2010 |
|||
|
A | 0.800 | GeneticVariation | CLINVAR | Clinical and molecular genetic spectrum of autosomal dominant Emery-Dreifuss muscular dystrophy due to mutations of the lamin A/C gene. | 10939567 | 2000 |
|||
|
A | 0.800 | GeneticVariation | CLINVAR | Expression of disease-causing lamin A mutants impairs the formation of DNA repair foci. | 16772334 | 2006 |
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|
A | 0.800 | GeneticVariation | CLINVAR | Myopathic lamin mutations impair nuclear stability in cells and tissue and disrupt nucleo-cytoskeletal coupling. | 23427149 | 2013 |
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|
A | 0.800 | GeneticVariation | CLINVAR | Cardiac features of Emery-Dreifuss muscular dystrophy caused by lamin A/C gene mutations. | 14659775 | 2003 |
|||
|
A | 0.800 | GeneticVariation | CLINVAR | Specific phosphorylation of Ser458 of A-type lamins in LMNA-associated myopathy patients. | 20980393 | 2010 |