| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
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T | 0.700 | GeneticVariation | CLINVAR | Clinically Linked Mutations in the Central Domains of Cardiac Myosin-Binding Protein C with Distinct Phenotypes Show Differential Structural Effects. | 26688216 | 2016 |
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T | 0.700 | GeneticVariation | CLINVAR | Compound heterozygosity deteriorates phenotypes of hypertrophic cardiomyopathy with founder MYBPC3 mutation: evidence from patients and zebrafish models. | 25281569 | 2014 |
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T | 0.700 | GeneticVariation | CLINVAR | Distinguishing hypertrophic cardiomyopathy-associated mutations from background genetic noise. | 24510615 | 2014 |
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T | 0.700 | GeneticVariation | CLINVAR | The R820W mutation in the MYBPC3 gene, associated with hypertrophic cardiomyopathy in cats, causes hypertrophic cardiomyopathy and left ventricular non-compaction in humans. | 20542340 | 2010 |
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T | 0.700 | GeneticVariation | CLINVAR | A novel mutation in the cardiac myosin-binding protein C gene is responsible for hypertrophic cardiomyopathy with severe ventricular hypertrophy and sudden death. | 16181148 | 2006 |
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T | 0.700 | GeneticVariation | CLINVAR | Gene mutations in adult Japanese patients with dilated cardiomyopathy. | 15671604 | 2005 |
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T | 0.700 | GeneticVariation | CLINVAR | "Hypertrophic cardiomyopathy: two homozygous cases with ""typical"" hypertrophic cardiomyopathy and three new mutations in cases with progression to dilated cardiomyopathy." | 12951062 | 2003 |
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T | 0.700 | GeneticVariation | 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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T | 0.700 | GeneticVariation | CLINVAR | A novel missense mutation in the myosin binding protein-C gene is responsible for hypertrophic cardiomyopathy with left ventricular dysfunction and dilation in elderly patients. | 12628722 | 2003 |