| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
T | 0.700 | CausalMutation | CLINVAR | Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. | 27532257 | 2017 |
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|
T | 0.700 | CausalMutation | CLINVAR | RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. | 25525159 | 2015 |
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|
T | 0.700 | CausalMutation | CLINVAR | Sarcomere mutation-specific expression patterns in human hypertrophic cardiomyopathy. | 25031304 | 2014 |
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|
T | 0.700 | CausalMutation | CLINVAR | A low prevalence of MYH7/MYBPC3 mutations among familial hypertrophic cardiomyopathy patients in India. | 21959974 | 2012 |
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|
T | 0.700 | CausalMutation | CLINVAR | Cardiac structural and sarcomere genes associated with cardiomyopathy exhibit marked intolerance of genetic variation. | 23074333 | 2012 |
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|
T | 0.700 | CausalMutation | CLINVAR | Mutation spectrum in a large cohort of unrelated consecutive patients with hypertrophic cardiomyopathy. | 12974739 | 2003 |
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|
T | 0.700 | CausalMutation | CLINVAR | Spectrum of clinical phenotypes and gene variants in cardiac myosin-binding protein C mutation carriers with hypertrophic cardiomyopathy. | 11499719 | 2001 |
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|
G | 0.700 | CausalMutation | CLINVAR | Spectrum of clinical phenotypes and gene variants in cardiac myosin-binding protein C mutation carriers with hypertrophic cardiomyopathy. | 11499719 | 2001 |
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|
T | 0.700 | CausalMutation | CLINVAR | Mutations in the cardiac troponin I gene associated with hypertrophic cardiomyopathy. | 9241277 | 1997 |