| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
C | 0.700 | CausalMutation | CLINVAR | The clinical features, outcomes and genetic characteristics of hypertrophic cardiomyopathy patients with severe right ventricular hypertrophy. | 28323875 | 2017 |
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|
C | 0.700 | CausalMutation | CLINVAR | Multiple Gene Variants in Hypertrophic Cardiomyopathy in the Era of Next-Generation Sequencing. | 28790153 | 2017 |
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|
C | 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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|
C | 0.700 | CausalMutation | CLINVAR | Usefulness of Genetic Testing in Hypertrophic Cardiomyopathy: an Analysis Using Real-World Data. | 28138913 | 2017 |
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|
C | 0.700 | CausalMutation | CLINVAR | Multidimensional structure-function relationships in human β-cardiac myosin from population-scale genetic variation. | 27247418 | 2016 |
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|
C | 0.700 | CausalMutation | CLINVAR | T1 measurements identify extracellular volume expansion in hypertrophic cardiomyopathy sarcomere mutation carriers with and without left ventricular hypertrophy. | 23549607 | 2013 |
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|
C | 0.700 | CausalMutation | CLINVAR | High resolution melting: improvements in the genetic diagnosis of hypertrophic cardiomyopathy in a Portuguese cohort. | 22429680 | 2012 |
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|
C | 0.700 | CausalMutation | CLINVAR | Resequencing the whole MYH7 gene (including the intronic, promoter, and 3' UTR sequences) in hypertrophic cardiomyopathy. | 22765922 | 2012 |
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|
C | 0.700 | CausalMutation | CLINVAR | Development and validation of a computational method for assessment of missense variants in hypertrophic cardiomyopathy. | 21310275 | 2011 |