| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
T | 0.700 | CausalMutation | CLINVAR | Age of heart disease presentation and dysmorphic nuclei in patients with LMNA mutations. | 29149195 | 2017 |
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|
T | 0.700 | CausalMutation | CLINVAR | Heart-hand syndrome IV: a second family with LMNA-related cardiomyopathy and brachydactyly. | 27723096 | 2017 |
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|
T | 0.700 | CausalMutation | CLINVAR | Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. | 27532257 | 2017 |
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|
T | 0.700 | CausalMutation | CLINVAR | Limb-girdle muscular dystrophy with severe heart failure overlapping with lipodystrophy in a patient with LMNA mutation p.Ser334del. | 27585670 | 2017 |
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|
T | 0.700 | CausalMutation | CLINVAR | Gene-Based Risk Stratification for Cardiac Disorders in LMNA Mutation Carriers. | 29237675 | 2017 |
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|
T | 0.700 | CausalMutation | CLINVAR | Lamin A/C mutations in dilated cardiomyopathy. | 24846508 | 2014 |
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|
T | 0.700 | CausalMutation | CLINVAR | Overlapping syndromes in laminopathies: a meta-analysis of the reported literature. | 23853504 | 2013 |
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|
T | 0.700 | CausalMutation | CLINVAR | Gender-specific differences in major cardiac events and mortality in lamin A/C mutation carriers. | 23183350 | 2013 |
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|
T | 0.700 | CausalMutation | CLINVAR | Genetic testing for dilated cardiomyopathy in clinical practice. | 22464770 | 2012 |
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|
T | 0.700 | CausalMutation | CLINVAR | Identification of novel mutations in LMNA associated with familial forms of dilated cardiomyopathy. | 22224630 | 2012 |
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|
T | 0.700 | CausalMutation | CLINVAR | Structures of the lamin A/C R335W and E347K mutants: implications for dilated cardiolaminopathies. | 22266370 | 2012 |
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|
T | 0.700 | GeneticVariation | CLINVAR |