| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
T | 0.710 | CausalMutation | CLINVAR | Clinical features, spectrum of causal genetic mutations and outcome of hypertrophic cardiomyopathy in South Africans. | 27841901 | 2017 |
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|
T | 0.710 | CausalMutation | CLINVAR | Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. | 27532257 | 2017 |
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|
T | 0.710 | CausalMutation | CLINVAR | Multidimensional structure-function relationships in human β-cardiac myosin from population-scale genetic variation. | 27247418 | 2016 |
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|
T | 0.710 | CausalMutation | CLINVAR | Genetics of hypertrophic cardiomyopathy in Norway. | 24111713 | 2014 |
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|
T | 0.710 | CausalMutation | CLINVAR | Rare variants in genes encoding MuRF1 and MuRF2 are modifiers of hypertrophic cardiomyopathy. | 24865491 | 2014 |
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|
0.710 | GeneticVariation | BEFREE | In a small cohort of HCM patients (n=8), we searched for mutations in the two most common genes responsible for HCM and found four missense mutations in the MYH7 gene encoding cardiac β-myosin heavy chain (R204H, M493V, R719W, and R870H) and three mutations in the myosin-binding protein C3 gene (MYBPC3) including one missense (A848V) and two frameshift mutations (c.3713delTG and c.702ins26bp). | 23816408 | 2013 |
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|
T | 0.710 | CausalMutation | CLINVAR | Detection of a large duplication mutation in the myosin-binding protein C3 gene in a case of hypertrophic cardiomyopathy. | 23816408 | 2013 |
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|
T | 0.710 | CausalMutation | CLINVAR | Development and validation of a computational method for assessment of missense variants in hypertrophic cardiomyopathy. | 21310275 | 2011 |
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T | 0.710 | CausalMutation | CLINVAR | Hypertrophic cardiomyopathy: distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategy. | 12707239 | 2003 |
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|
A | 0.710 | GeneticVariation | CLINVAR |