Source: CLINVAR ×
| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
C | 0.700 | CausalMutation | CLINVAR | A founder MYBPC3 mutation results in HCM with a high risk of sudden death after the fourth decade of life. | 25740977 | 2015 |
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C | 0.700 | CausalMutation | CLINVAR | Results of clinical genetic testing of 2,912 probands with hypertrophic cardiomyopathy: expanded panels offer limited additional sensitivity. | 25611685 | 2015 |
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C | 0.700 | CausalMutation | CLINVAR | Structural characterization of the C3 domain of cardiac myosin binding protein C and its hypertrophic cardiomyopathy-related R502W mutant. | 25058872 | 2014 |
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C | 0.700 | CausalMutation | CLINVAR | Cardiac myosin binding protein-C mutations in families with hypertrophic cardiomyopathy: disease expression in relation to age, gender, and long term outcome. | 22267749 | 2012 |
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C | 0.700 | CausalMutation | CLINVAR | Prevalence and spectrum of mutations in a cohort of 192 unrelated patients with hypertrophic cardiomyopathy. | 20624503 | 2011 |
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C | 0.700 | CausalMutation | CLINVAR | The yield of risk stratification for sudden cardiac death in hypertrophic cardiomyopathy myosin-binding protein C gene mutation carriers: focus on predictive screening. | 20019025 | 2010 |
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C | 0.700 | CausalMutation | CLINVAR | A child cohort study from southern Italy enlarges the genetic spectrum of hypertrophic cardiomyopathy. | 19659763 | 2009 |
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C | 0.700 | CausalMutation | CLINVAR | Shared genetic causes of cardiac hypertrophy in children and adults. | 18403758 | 2008 |