Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
---|---|---|---|---|---|---|---|---|---|---|
|
C | 0.700 | GeneticVariation | CLINVAR | Rare variant mutations identified in pediatric patients with dilated cardiomyopathy. | 21483645 | 2011 |
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|
G | 0.700 | GeneticVariation | CLINVAR | Development and validation of a computational method for assessment of missense variants in hypertrophic cardiomyopathy. | 21310275 | 2011 |
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|
C | 0.700 | GeneticVariation | CLINVAR | Coding sequence rare variants identified in MYBPC3, MYH6, TPM1, TNNC1, and TNNI3 from 312 patients with familial or idiopathic dilated cardiomyopathy. | 20215591 | 2010 |
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|
A | 0.700 | GeneticVariation | CLINVAR | The importance of genetic counseling, DNA diagnostics, and cardiologic family screening in left ventricular noncompaction cardiomyopathy. | 20530761 | 2010 |
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|
A | 0.700 | CausalMutation | CLINVAR | Familial dilated cardiomyopathy caused by an alpha-tropomyosin mutation: the distinctive natural history of sarcomeric dilated cardiomyopathy. | 20117437 | 2010 |
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|
G | 0.700 | GeneticVariation | CLINVAR | Alteration of tropomyosin function and folding by a nemaline myopathy-causing mutation. | 11106625 | 2000 |
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|
A | 0.700 | GeneticVariation | CLINVAR | ||||||
|
G | 0.700 | GeneticVariation | CLINVAR | ||||||
|
C | 0.700 | GeneticVariation | CLINVAR | ||||||
|
A | 0.700 | GeneticVariation | CLINVAR | ||||||
|
T | 0.700 | GeneticVariation | CLINVAR | ||||||
|
A | 0.700 | GeneticVariation | CLINVAR |