| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
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0.010 | GeneticVariation | BEFREE | Penetrance and expressivity of the R858H CACNA1C variant in a five-generation pedigree segregating an arrhythmogenic channelopathy. | 30345660 | 2019 |
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0.010 | GeneticVariation | BEFREE | The p.A1156T mutation alters the function of the voltage-gated sodium channel Nav1.4 on the muscle sarcolemma, causing a channelopathy without overt myotonia or periodic paralysis but with myalgic pain. | 29272040 | 2018 |
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|
0.010 | GeneticVariation | BEFREE | This study successfully demonstrated diminished sodium currents resulting from lower Na<sub>V</sub>1.5 protein levels, which is dependent on proteasomal degradation, using a hiPSC-based model forSCN5A-D1275N-related sodium channelopathy. | 28637969 | 2017 |
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0.010 | GeneticVariation | BEFREE | The human TRPV4(V620I) channelopathy mutation was transfected into primary porcine chondrocytes and caused significant (2.6-fold) up-regulation of follistatin (FST) expression levels. | 24577120 | 2014 |
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0.010 | GeneticVariation | BEFREE | We report a Korean case of an overlap syndrome of cardiac sodium channelopathy with SCN5A p.R1193Q polymorphism, treated by the placement of an intrapericardial implantable cardioverter-defibrillator (ICD) at the age of 27 months. | 22519808 | 2012 |
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0.010 | GeneticVariation | BEFREE | This E46K-associated channelopathy was no longer observed when GM3 was present in phosphatidylcholine bilayers. | 20114052 | 2010 |
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0.010 | GeneticVariation | BEFREE | Using clinical assessment and needle EMG, we identified this genotype-phenotype correlation in six L250P patients from one NaCh family and confirmed this finding in another, unrelated NaCh family with three L250P patients. | 19876661 | 2010 |
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0.010 | GeneticVariation | BEFREE | This E46K-associated channelopathy was no longer observed when GM3 was present in phosphatidylcholine bilayers. | 20114052 | 2010 |