| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
A | 0.700 | CausalMutation | CLINVAR | Compound heterozygous or homozygous truncating MYBPC3 mutations cause lethal cardiomyopathy with features of noncompaction and septal defects. | 25335496 | 2015 |
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|
A | 0.700 | CausalMutation | CLINVAR | Myocardial structural alteration and systolic dysfunction in preclinical hypertrophic cardiomyopathy mutation carriers. | 22574137 | 2012 |
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|
A | 0.700 | CausalMutation | CLINVAR | Unexpected myopathy associated with a mutation in MYBPC3 and misplacement of the cardiac myosin binding protein C. | 19858127 | 2010 |
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|
A | 0.700 | CausalMutation | CLINVAR | Founder mutations in hypertrophic cardiomyopathy patients in the Netherlands. | 20505798 | 2010 |
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|
A | 0.700 | CausalMutation | CLINVAR | Diastolic abnormalities as the first feature of hypertrophic cardiomyopathy in Dutch myosin-binding protein C founder mutations. | 19356534 | 2009 |
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|
A | 0.700 | CausalMutation | CLINVAR | Shared genetic causes of cardiac hypertrophy in children and adults. | 18403758 | 2008 |
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|
A | 0.700 | CausalMutation | CLINVAR | A DNA resequencing array for pathogenic mutation detection in hypertrophic cardiomyopathy. | 18409188 | 2008 |
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|
A | 0.700 | CausalMutation | CLINVAR | Two cases of severe neonatal hypertrophic cardiomyopathy caused by compound heterozygous mutations in the MYBPC3 gene. | 16679492 | 2006 |
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|
A | 0.700 | CausalMutation | CLINVAR | Myosin binding protein C mutations and compound heterozygosity in hypertrophic cardiomyopathy. | 15519027 | 2004 |
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|
A | 0.700 | CausalMutation | CLINVAR | The 2373insG mutation in the MYBPC3 gene is a founder mutation, which accounts for nearly one-fourth of the HCM cases in the Netherlands. | 14563344 | 2003 |