| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
T | 0.700 | CausalMutation | CLINVAR | Screen-based identification and validation of four new ion channels as regulators of renal ciliogenesis. | 26546361 | 2015 |
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|
T | 0.700 | CausalMutation | CLINVAR | Cellular mechanisms underlying the increased disease severity seen for patients with long QT syndrome caused by compound mutations in KCNQ1. | 24912595 | 2014 |
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|
T | 0.700 | CausalMutation | CLINVAR | Phenotype, origin and estimated prevalence of a common long QT syndrome mutation: a clinical, genealogical and molecular genetics study including Swedish R518X/KCNQ1 families. | 24552659 | 2014 |
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|
T | 0.700 | CausalMutation | CLINVAR | Prevalence, mutation spectrum, and cardiac phenotype of the Jervell and Lange-Nielsen syndrome in Sweden. | 22539601 | 2012 |
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T | 0.700 | CausalMutation | CLINVAR | Founder mutations characterise the mutation panorama in 200 Swedish index cases referred for Long QT syndrome genetic testing. | 23098067 | 2012 |
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|
T | 0.700 | CausalMutation | CLINVAR | Readthrough of long-QT syndrome type 1 nonsense mutations rescues function but alters the biophysical properties of the channel. | 22309168 | 2012 |
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|
T | 0.700 | CausalMutation | CLINVAR | Novel compound heterozygous mutations in the KCNQ1 gene associated with autosomal recessive long QT syndrome (Jervell and Lange-Nielsen syndrome). | 14510661 | 2003 |
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|
T | 0.700 | CausalMutation | CLINVAR | Recessive Romano-Ward syndrome associated with compound heterozygosity for two mutations in the KVLQT1 gene. | 10482963 | 1999 |
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|
T | 0.700 | CausalMutation | CLINVAR | Jervell and Lange-Nielsen syndrome: a Norwegian perspective. | 10704188 | 1999 |