Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
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T | 0.710 | CausalMutation | CLINVAR | Coding sequence mutations identified in MYH7, TNNT2, SCN5A, CSRP3, LBD3, and TCAP from 313 patients with familial or idiopathic dilated cardiomyopathy. | 19412328 | 2008 |
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T | 0.710 | CausalMutation | CLINVAR | Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test. | 19716085 | 2009 |
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T | 0.710 | CausalMutation | CLINVAR | Rare variant mutations in pregnancy-associated or peripartum cardiomyopathy. | 20458009 | 2010 |
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T | 0.710 | CausalMutation | CLINVAR | SCN5A rare variants in familial dilated cardiomyopathy decrease peak sodium current depending on the common polymorphism H558R and common splice variant Q1077del. | 21167004 | 2010 |
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T | 0.710 | CausalMutation | CLINVAR | SCN5A mutations associate with arrhythmic dilated cardiomyopathy and commonly localize to the voltage-sensing mechanism. | 21596231 | 2011 |
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0.710 | GeneticVariation | BEFREE | R222Q SCN5A mutation is associated with reversible ventricular ectopy and dilated cardiomyopathy. | 22999724 | 2012 |
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T | 0.710 | CausalMutation | CLINVAR | Multifocal ectopic Purkinje-related premature contractions: a new SCN5A-related cardiac channelopathy. | 22766342 | 2012 |
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T | 0.710 | CausalMutation | CLINVAR | Criteria to predict carriers of a novel SCN5A mutation in a large Portuguese family affected by the Brugada syndrome. | 22277643 | 2012 |
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T | 0.710 | CausalMutation | CLINVAR | Escape capture bigeminy: phenotypic marker of cardiac sodium channel voltage sensor mutation R222Q. | 22710484 | 2012 |
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T | 0.710 | CausalMutation | CLINVAR | R222Q SCN5A mutation is associated with reversible ventricular ectopy and dilated cardiomyopathy. | 22999724 | 2012 |