| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
A | 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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|
A | 0.700 | CausalMutation | CLINVAR | A human MYBPC3 mutation appearing about 10 centuries ago results in a hypertrophic cardiomyopathy with delayed onset, moderate evolution but with a risk of sudden death. | 23140321 | 2012 |
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|
A | 0.700 | CausalMutation | CLINVAR | Genetic basis of end-stage hypertrophic cardiomyopathy. | 21896538 | 2011 |
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|
A | 0.700 | CausalMutation | CLINVAR | A DNA resequencing array for pathogenic mutation detection in hypertrophic cardiomyopathy. | 18409188 | 2008 |
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|
A | 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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|
A | 0.700 | CausalMutation | CLINVAR | Denaturing high performance liquid chromatography: high throughput mutation screening in familial hypertrophic cardiomyopathy and SNP genotyping in motor neurone disease. | 15858117 | 2005 |
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|
A | 0.700 | CausalMutation | CLINVAR | Comprehensive analysis of the beta-myosin heavy chain gene in 389 unrelated patients with hypertrophic cardiomyopathy. | 15358028 | 2004 |
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|
A | 0.700 | CausalMutation | CLINVAR | Functional consequences of mutations in the smooth muscle myosin heavy chain at sites implicated in familial hypertrophic cardiomyopathy. | 10882745 | 2000 |
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|
A | 0.700 | CausalMutation | CLINVAR | A high risk phenotype of hypertrophic cardiomyopathy associated with a compound genotype of two mutated beta-myosin heavy chain genes. | 9544842 | 1998 |
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|
A | 0.700 | CausalMutation | CLINVAR | A new missense mutation, Arg719Gln, in the beta-cardiac heavy chain myosin gene of patients with familial hypertrophic cardiomyopathy. | 7848441 | 1994 |