| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
G | 0.700 | CausalMutation | CLINVAR | Phenotype and prognostic correlations of the converter region mutations affecting the β myosin heavy chain. | 25935763 | 2015 |
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|
G | 0.700 | CausalMutation | CLINVAR | Familial hypertrophic cardiomyopathy: functional variance among individual cardiomyocytes as a trigger of FHC-phenotype development. | 25346696 | 2014 |
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|
G | 0.700 | CausalMutation | CLINVAR | Mutation spectrum in a large cohort of unrelated Chinese patients with hypertrophic cardiomyopathy. | 23711808 | 2013 |
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|
G | 0.700 | CausalMutation | CLINVAR | Spectrum and clinical manifestations of mutations in genes responsible for hypertrophic cardiomyopathy. | 22455086 | 2012 |
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|
G | 0.700 | CausalMutation | CLINVAR | Prevalence and distribution of sarcomeric gene mutations in Japanese patients with familial hypertrophic cardiomyopathy. | 22112859 | 2012 |
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|
G | 0.700 | CausalMutation | CLINVAR | Cardiomyopathy mutations reveal variable region of myosin converter as major element of cross-bridge compliance. | 19651039 | 2009 |
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|
G | 0.700 | CausalMutation | CLINVAR | Prevalence of cardiac beta-myosin heavy chain gene mutations in patients with hypertrophic cardiomyopathy. | 15856146 | 2005 |
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|
G | 0.700 | CausalMutation | CLINVAR | Compound and double mutations in patients with hypertrophic cardiomyopathy: implications for genetic testing and counselling. | 16199542 | 2005 |
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|
G | 0.700 | CausalMutation | CLINVAR | Utility of genetic screening in hypertrophic cardiomyopathy: prevalence and significance of novel and double (homozygous and heterozygous) beta-myosin mutations. | 12820698 | 2003 |
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|
G | 0.700 | CausalMutation | CLINVAR | Mutation spectrum in a large cohort of unrelated consecutive patients with hypertrophic cardiomyopathy. | 12974739 | 2003 |