Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
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T | 0.700 | CausalMutation | CLINVAR | Familial hypertrophic cardiomyopathy and atrial fibrillation caused by Arg663His beta-cardiac myosin heavy chain mutation. | 10750581 | 1999 |
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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 | Abnormal calcium handling properties underlie familial hypertrophic cardiomyopathy pathology in patient-specific induced pluripotent stem cells. | 23290139 | 2013 |
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T | 0.700 | CausalMutation | CLINVAR | Multiple gene mutations, not the type of mutation, are the modifier of left ventricle hypertrophy in patients with hypertrophic cardiomyopathy. | 23283745 | 2013 |
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|
T | 0.700 | CausalMutation | CLINVAR | Mutations profile in Chinese patients with hypertrophic cardiomyopathy. | 15563892 | 2005 |
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|
T | 0.700 | CausalMutation | CLINVAR | Hypertrophic cardiomyopathy: distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategy. | 12707239 | 2003 |
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|
T | 0.700 | CausalMutation | CLINVAR | Beta-myosin heavy chain gene mutations and hypertrophic cardiomyopathy in Austrian children. | 11133230 | 2001 |
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T | 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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T | 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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T | 0.700 | CausalMutation | CLINVAR | Comprehensive analysis of the beta-myosin heavy chain gene in 389 unrelated patients with hypertrophic cardiomyopathy. | 15358028 | 2004 |