| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
0.720 | GeneticVariation | BEFREE | An iPSC line was generated from peripheral blood mononuclear cells obtained from the whole blood of a 58-year-old male with hypertrophic cardiomyopathy who carries the heterozygous pathogenic myosin binding protein C mutation p.Arg502Trp. | 30316040 | 2018 |
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|
A | 0.720 | CausalMutation | CLINVAR | Short communication: the cardiac myosin binding protein C Arg502Trp mutation: a common cause of hypertrophic cardiomyopathy. | 20378854 | 2010 |
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|
0.720 | GeneticVariation | BEFREE | MYBPC3 Arg502Trp conveys a 340-fold increased risk for HCM by 45 years of age, when more than 50% of carriers have overt disease. | 20378854 | 2010 |
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|
A | 0.720 | CausalMutation | CLINVAR | Prevalence of sarcomere protein gene mutations in preadolescent children with hypertrophic cardiomyopathy. | 20031618 | 2009 |
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|
A | 0.720 | CausalMutation | CLINVAR | Evidence from human myectomy samples that MYBPC3 mutations cause hypertrophic cardiomyopathy through haploinsufficiency. | 19574547 | 2009 |
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|
A | 0.720 | CausalMutation | CLINVAR | Prevalence, clinical significance, and natural history of left ventricular apical aneurysms in hypertrophic cardiomyopathy. | 18809796 | 2008 |
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|
A | 0.720 | CausalMutation | CLINVAR | Compound and double mutations in patients with hypertrophic cardiomyopathy: implications for genetic testing and counselling. | 16199542 | 2005 |
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|
A | 0.720 | CausalMutation | CLINVAR | Myosin binding protein C mutations and compound heterozygosity in hypertrophic cardiomyopathy. | 15519027 | 2004 |
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|
A | 0.720 | CausalMutation | CLINVAR | Hypertrophic cardiomyopathy: distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategy. | 12707239 | 2003 |