| Variant | Gene | Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
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G | 0.700 | GeneticVariation | CLINVAR | ||||||||||
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A | 0.700 | GeneticVariation | CLINVAR | ||||||||||
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T | 0.700 | GeneticVariation | CLINVAR | ||||||||||
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C | 0.700 | CausalMutation | CLINVAR | ||||||||||
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A | 0.700 | GeneticVariation | CLINVAR | ||||||||||
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G | 0.700 | GeneticVariation | CLINVAR | ||||||||||
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G | 0.700 | GeneticVariation | CLINVAR | ||||||||||
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A | 0.700 | GeneticVariation | CLINVAR | ||||||||||
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T | 0.700 | GeneticVariation | CLINVAR | ||||||||||
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G | 0.700 | GeneticVariation | CLINVAR | ||||||||||
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A | 0.700 | GeneticVariation | CLINVAR | ||||||||||
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C | 0.700 | GeneticVariation | CLINVAR | ||||||||||
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T | 0.700 | GeneticVariation | CLINVAR | ||||||||||
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A | 0.700 | GeneticVariation | CLINVAR | ||||||||||
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C | 0.700 | GeneticVariation | CLINVAR | ||||||||||
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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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C | 0.700 | GeneticVariation | CLINVAR | A novel LMNA gene mutation Leu162Pro and the associated clinical characteristics in a family with autosomal-dominant emery-dreifuss muscular dystrophy. | 18816602 | 2008 |
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G | 0.700 | GeneticVariation | CLINVAR | A novel mutation in a large French-Canadian family with LGMD1B. | 18714801 | 2008 |
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A | 0.700 | GeneticVariation | CLINVAR | A novel mutation in a large French-Canadian family with LGMD1B. | 18714801 | 2008 |
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TG | 0.700 | CausalMutation | CLINVAR | A novel mutation in LAMIN A/C is associated with isolated early-onset atrial fibrillation and progressive atrioventricular block followed by cardiomyopathy and sudden cardiac death. | 19328042 | 2009 |
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T | 0.700 | GeneticVariation | CLINVAR | Abstracts from the 11th Annual Meeting of the ECCR (European Council for Cardiovascular Research), Nice, France, 29 September-1 October 2006. | 16990647 | 2006 |
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T | 0.700 | CausalMutation | CLINVAR | Age of heart disease presentation and dysmorphic nuclei in patients with LMNA mutations. | 29149195 | 2017 |
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G | 0.700 | GeneticVariation | CLINVAR | An alternative splicing product of the lamin A/C gene lacks exon 10. | 8621584 | 1996 |
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T | 0.700 | CausalMutation | CLINVAR | Apical left ventricular aneurysm without atrio-ventricular block due to a lamin A/C gene mutation. | 14675861 | 2003 |
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T | 0.710 | CausalMutation | CLINVAR | Arrhythmia characterization and long-term outcomes in catecholaminergic polymorphic ventricular tachycardia. | 21315846 | 2011 |