Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
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A | 0.730 | CausalMutation | CLINVAR | Identification and characterization of a novel recessive KCNQ1 mutation associated with Romano-Ward Long-QT syndrome in two Iranian families. | 29033053 | 2018 |
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0.730 | GeneticVariation | BEFREE | We examined the role of a novel synonymous <i>KCNQ1</i> p.L353L variant on the splicing of exon 8 and on heart rate corrected QT interval (QTc) in a population known to have a pathogenic LQTS type 1 (LQTS1) causative mutation, p.V205M, in <i>KCNQ1</i>-encoded Kv7.1. | 28264985 | 2017 |
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A | 0.730 | 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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0.730 | GeneticVariation | BEFREE | Given the lack of prelingual deafness the homozygous V205M LQTS patients present with a phenotype more typical of RWS than JLNS. | 23844633 | 2014 |
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A | 0.730 | CausalMutation | CLINVAR | Given the lack of prelingual deafness the homozygous V205M LQTS patients present with a phenotype more typical of RWS than JLNS. | 23844633 | 2014 |
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A | 0.730 | 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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0.730 | GeneticVariation | BEFREE | A KCNQ1 V205M missense mutation causes a high rate of long QT syndrome in a First Nations community of northern British Columbia: a community-based approach to understanding the impact. | 18580685 | 2008 |
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A | 0.730 | CausalMutation | CLINVAR | A KCNQ1 V205M missense mutation causes a high rate of long QT syndrome in a First Nations community of northern British Columbia: a community-based approach to understanding the impact. | 18580685 | 2008 |