Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
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T | 0.700 | GeneticVariation | CLINVAR | Calmodulin is essential for cardiac IKS channel gating and assembly: impaired function in long-QT mutations. | 16556865 | 2006 |
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T | 0.700 | GeneticVariation | CLINVAR | Four novel KVLQT1 and four novel HERG mutations in familial long-QT syndrome. | 9024139 | 1997 |
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T | 0.700 | GeneticVariation | CLINVAR | Genetic testing for long-QT syndrome: distinguishing pathogenic mutations from benign variants. | 19841300 | 2009 |
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T | 0.700 | GeneticVariation | CLINVAR | Genomic structure of three long QT syndrome genes: KVLQT1, HERG, and KCNE1. | 9693036 | 1998 |
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T | 0.700 | GeneticVariation | CLINVAR | KCNQ1 long QT syndrome patients have hyperinsulinemia and symptomatic hypoglycemia. | 24357532 | 2014 |
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T | 0.700 | GeneticVariation | CLINVAR | Phylogenetic and physicochemical analyses enhance the classification of rare nonsynonymous single nucleotide variants in type 1 and 2 long-QT syndrome. | 22949429 | 2012 |
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T | 0.700 | GeneticVariation | CLINVAR | Spectrum and frequency of cardiac channel defects in swimming-triggered arrhythmia syndromes. | 15466642 | 2004 |
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T | 0.700 | GeneticVariation | 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 | 0.700 | GeneticVariation | CLINVAR | Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2. | 10973849 | 2000 |