Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
---|---|---|---|---|---|---|---|---|---|---|
|
A | 0.810 | GeneticVariation | CLINVAR | The presumed pathogenic mutations were distributed with one case of suspected HCM and DCM (MYH7; p.R442H), one case of suspected DCM (LMNA; p.R471H), and two cases of suspected ARVC (PKP2; p.R79X and LMNA; p.R644C). | 22177269 | 2012 |
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|
A | 0.810 | GeneticVariation | CLINVAR | Mapping disease-related missense mutations in the immunoglobulin-like fold domain of lamin A/C reveals novel genotype-phenotype associations for laminopathies. | 24375749 | 2014 |
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|
A | 0.810 | GeneticVariation | CLINVAR | Gender-specific differences in major cardiac events and mortality in lamin A/C mutation carriers. | 23183350 | 2013 |
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|
A | 0.810 | GeneticVariation | CLINVAR | Morphological analysis of 13 LMNA variants identified in a cohort of 324 unrelated patients with idiopathic or familial dilated cardiomyopathy. | 20160190 | 2010 |
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|
A | 0.810 | GeneticVariation | CLINVAR | Lamin A/C mutation analysis in a cohort of 324 unrelated patients with idiopathic or familial dilated cardiomyopathy. | 18585512 | 2008 |
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|
A | 0.810 | GeneticVariation | CLINVAR | Emerinopathy and laminopathy clinical, pathological and molecular features of muscular dystrophy with nuclear envelopathy in Japan. | 18646565 | 2007 |
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|
A | 0.810 | GeneticVariation | CLINVAR | The landscape of genetic variation in dilated cardiomyopathy as surveyed by clinical DNA sequencing. | 24503780 | 2014 |
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|
A | 0.810 | GeneticVariation | CLINVAR | Systematic identification of pathological lamin A interactors. | 24623722 | 2014 |
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|
A | 0.810 | CausalMutation | CLINVAR | ||||||
|
A | 0.700 | CausalMutation | CLINVAR | ||||||
|
A | 0.700 | CausalMutation | CLINVAR | ||||||
|
A | 0.700 | CausalMutation | CLINVAR | ||||||
|
C | 0.800 | GeneticVariation | CLINVAR | ||||||
|
C | 0.700 | GeneticVariation | CLINVAR | ||||||
|
C | 0.700 | CausalMutation | CLINVAR | ||||||
|
C | 0.700 | CausalMutation | CLINVAR | ||||||
|
C | 0.700 | GeneticVariation | CLINVAR | ||||||
|
G | 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 | GeneticVariation | CLINVAR | ||||||
|
G | 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 |