| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
TT | 0.700 | CausalMutation | CLINVAR | Compound Mutations Cause Increased Cardiac Events in Children with Long QT Syndrome: Can the Sequence Homology-Based Tools be Applied for Prediction of Phenotypic Severity? | 27041096 | 2016 |
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|
TT | 0.700 | CausalMutation | CLINVAR | Asymmetry of parental origin in long QT syndrome: preferential maternal transmission of KCNQ1 variants linked to channel dysfunction. | 26669661 | 2016 |
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|
TT | 0.700 | CausalMutation | CLINVAR | QT Adaptation and Intrinsic QT Variability in Congenital Long QT Syndrome. | 26675252 | 2015 |
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|
TT | 0.700 | CausalMutation | CLINVAR | UniProt: a hub for protein information. | 25348405 | 2015 |
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|
TT | 0.700 | CausalMutation | CLINVAR | Results of genetic testing in 855 consecutive unrelated patients referred for long QT syndrome in a clinical laboratory. | 23631430 | 2013 |
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|
TT | 0.700 | CausalMutation | CLINVAR | Genetic testing for long-QT syndrome: distinguishing pathogenic mutations from benign variants. | 19841300 | 2009 |
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|
TT | 0.700 | CausalMutation | CLINVAR | Molecular genetic analysis of long QT syndrome in Norway indicating a high prevalence of heterozygous mutation carriers. | 18752142 | 2008 |
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|
TT | 0.700 | CausalMutation | CLINVAR | Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing. | 15840476 | 2005 |
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|
TT | 0.700 | CausalMutation | CLINVAR | A spectrum of functional effects for disease causing mutations in the Jervell and Lange-Nielsen syndrome. | 11530100 | 2001 |
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|
TT | 0.700 | CausalMutation | CLINVAR | Jervell and Lange-Nielsen syndrome: a Norwegian perspective. | 10704188 | 1999 |