| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
AC | 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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AC | 0.700 | CausalMutation | CLINVAR | The role of renin-angiotensin-aldosterone system polymorphisms in phenotypic expression of MYBPC3-related hypertrophic cardiomyopathy. | 22569109 | 2012 |
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AC | 0.700 | CausalMutation | CLINVAR | Myocardial structural alteration and systolic dysfunction in preclinical hypertrophic cardiomyopathy mutation carriers. | 22574137 | 2012 |
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AC | 0.700 | CausalMutation | CLINVAR | Mortality risk of untreated myosin-binding protein C-related hypertrophic cardiomyopathy: insight into the natural history. | 22115648 | 2011 |
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AC | 0.700 | CausalMutation | CLINVAR | Founder mutations in hypertrophic cardiomyopathy patients in the Netherlands. | 20505798 | 2010 |
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AC | 0.700 | CausalMutation | CLINVAR | Cardiac myosin-binding protein C mutations and hypertrophic cardiomyopathy: haploinsufficiency, deranged phosphorylation, and cardiomyocyte dysfunction. | 19273718 | 2009 |
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|
AC | 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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|
AC | 0.700 | CausalMutation | CLINVAR | Myosin binding protein C mutations and compound heterozygosity in hypertrophic cardiomyopathy. | 15519027 | 2004 |
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AC | 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 |
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|
AC | 0.700 | CausalMutation | CLINVAR | A newly created splice donor site in exon 25 of the MyBP-C gene is responsible for inherited hypertrophic cardiomyopathy with incomplete disease penetrance. | 10736283 | 2000 |
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|
AC | 0.700 | CausalMutation | CLINVAR | Mutations in the gene for cardiac myosin-binding protein C and late-onset familial hypertrophic cardiomyopathy. | 9562578 | 1998 |