| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
T | 0.720 | CausalMutation | CLINVAR | Cellular mechanisms of mutations in Kv7.1: auditory functions in Jervell and Lange-Nielsen syndrome vs. Romano-Ward syndrome. | 25705178 | 2015 |
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|
0.720 | GeneticVariation | BEFREE | The R518X/KCNQ1 mutation is a common cause of autosomal recessive (Jervell and Lange Nielsen Syndrome- JLNS) and autosomal dominant long QT syndrome (LQTS) worldwide. | 24552659 | 2014 |
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|
T | 0.720 | CausalMutation | CLINVAR | The study included 19 Swedish p.R518X index families, ascertained by molecular genetics methods (101 mutation-carriers, whereof 15 JLNS cases and 86 LQTS cases). | 24552659 | 2014 |
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|
T | 0.720 | CausalMutation | CLINVAR | Prevalence and potential genetic determinants of sensorineural deafness in KCNQ1 homozygosity and compound heterozygosity. | 23392653 | 2013 |
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|
T | 0.720 | 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 | 0.720 | CausalMutation | CLINVAR | Prevalence, mutation spectrum, and cardiac phenotype of the Jervell and Lange-Nielsen syndrome in Sweden. | 22539601 | 2012 |
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|
0.720 | GeneticVariation | BEFREE | The R518X allele was previously associated with recessive long QT syndrome without deafness, but was present in a congenitally deaf proband in our study. | 10737999 | 2000 |
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|
T | 0.720 | CausalMutation | CLINVAR | Recessive Romano-Ward syndrome associated with compound heterozygosity for two mutations in the KVLQT1 gene. | 10482963 | 1999 |
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|
T | 0.720 | CausalMutation | CLINVAR | Jervell and Lange-Nielsen syndrome: a Norwegian perspective. | 10704188 | 1999 |