Source: ALL
| 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 | Among the genes related to other cardiac diseases, a likely pathogenic variant, RYR2 c.11995A>G, was identified in a patient with catecholaminergic polymorphic ventricular tachycardia. | 29071820 | 2018 |
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0.010 | GeneticVariation | BEFREE | A novel RYR2 loss-of-function mutation (I4855M) is associated with left ventricular non-compaction and atypical catecholaminergic polymorphic ventricular tachycardia. | 27646203 | 2017 |
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0.010 | GeneticVariation | BEFREE | Here, we report a case of athlete woman with adult-onset CPVT and aborted SCD who has a novel missense mutation (K4392R) in the cardiac RyR2 gene. | 25092222 | 2015 |
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0.010 | GeneticVariation | BEFREE | We conclude that the S4153R mutation is a gain-of-function RYR2 mutation associated with a clinical phenotype characterized by both CPVT and atrial fibrillation. | 23498838 | 2013 |
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0.010 | GeneticVariation | BEFREE | Segregation studies show that one variant (p.H4579Y) co-segregates with CPVT and is presumed to be pathogenic. | 22222782 | 2013 |
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0.010 | GeneticVariation | BEFREE | Dermal fibroblasts were obtained from a CPVT patient due to the M4109R heterozygous point RYR2 mutation and reprogrammed to generate the CPVT-hiPSCs. | 22749309 | 2012 |
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0.010 | GeneticVariation | BEFREE | Here, we report the generation of induced pluripotent stem cells (iPSCs) from a CPVT patient carrying a novel RYR2 S406L mutation. | 22174035 | 2012 |
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0.010 | GeneticVariation | BEFREE | The RyR2-G230C mutant exhibits similar biophysical defects compared with previously characterized CPVT mutations: decreased binding of the stabilizing subunit calstabin2 and a leftward shift in the Ca(2+) dependence for activation under conditions that simulate exercise, consistent with a "leaky" channel. | 21659649 | 2011 |
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0.010 | GeneticVariation | BEFREE | Two novel RyR2 missense mutations (R1051P and S616L) and two RyR2 exon 3 deletions were identified, explaining 25% of the CPVT phenotypes. | 19216760 | 2009 |
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0.020 | GeneticVariation | BEFREE | Our results uncover a mechanism for the CPVT-causing RyR2 N-terminal mutation R420Q, and they highlight the fact that enhancing the Ca2+ clock may slow the heart rhythm by disturbing the coupling between Ca2+ and voltage clocks. | 28422759 | 2017 |
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0.020 | GeneticVariation | BEFREE | The exercise testing unmasked catecholaminergic polymorphic ventricular tachycardia in 8 relatives (sensitivity = 89%; positive predictive value = 100%; negative predictive value = 93%), all of them carrying the heterozygous RyR2(R420Q) mutation, which was also present in the proband and a young girl without exercise testing, a 91% penetrance at the end of the follow-up. | 25440180 | 2015 |
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0.020 | GeneticVariation | BEFREE | RyR2 F2483I mutant myocytes have aberrant unitary Ca(2+)-signaling, smaller Ca(2+)-stores, higher CICR gains, and sensitized adrenergic regulation, consistent with functionally altered Ca(2+)-release profile of CPVT syndrome. | 23684427 | 2013 |
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0.020 | GeneticVariation | BEFREE | iPS cells were derived from dermal fibroblasts of healthy donors and a patient with CPVT1 carrying the novel heterozygous autosomal dominant mutation p.F2483I in the RYR2. | 22178870 | 2011 |
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T | 0.700 | CausalMutation | CLINVAR | Nationwide experience of catecholaminergic polymorphic ventricular tachycardia caused by RyR2 mutations. | 28237968 | 2017 |
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0.700 | GeneticVariation | UNIPROT | Enhanced Cytosolic Ca2+ Activation Underlies a Common Defect of Central Domain Cardiac Ryanodine Receptor Mutations Linked to Arrhythmias. | 27733687 | 2016 |
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0.700 | GeneticVariation | UNIPROT | Enhanced Cytosolic Ca2+ Activation Underlies a Common Defect of Central Domain Cardiac Ryanodine Receptor Mutations Linked to Arrhythmias. | 27733687 | 2016 |
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0.700 | GeneticVariation | UNIPROT | Enhanced Cytosolic Ca2+ Activation Underlies a Common Defect of Central Domain Cardiac Ryanodine Receptor Mutations Linked to Arrhythmias. | 27733687 | 2016 |
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0.700 | GeneticVariation | UNIPROT | Enhanced Cytosolic Ca2+ Activation Underlies a Common Defect of Central Domain Cardiac Ryanodine Receptor Mutations Linked to Arrhythmias. | 27733687 | 2016 |
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0.700 | GeneticVariation | UNIPROT | Enhanced Cytosolic Ca2+ Activation Underlies a Common Defect of Central Domain Cardiac Ryanodine Receptor Mutations Linked to Arrhythmias. | 27733687 | 2016 |
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0.700 | GeneticVariation | UNIPROT | Enhanced Cytosolic Ca2+ Activation Underlies a Common Defect of Central Domain Cardiac Ryanodine Receptor Mutations Linked to Arrhythmias. | 27733687 | 2016 |
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0.700 | GeneticVariation | UNIPROT | Enhanced Cytosolic Ca2+ Activation Underlies a Common Defect of Central Domain Cardiac Ryanodine Receptor Mutations Linked to Arrhythmias. | 27733687 | 2016 |
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0.700 | GeneticVariation | UNIPROT | Enhanced Cytosolic Ca2+ Activation Underlies a Common Defect of Central Domain Cardiac Ryanodine Receptor Mutations Linked to Arrhythmias. | 27733687 | 2016 |
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0.700 | GeneticVariation | UNIPROT | Enhanced Cytosolic Ca2+ Activation Underlies a Common Defect of Central Domain Cardiac Ryanodine Receptor Mutations Linked to Arrhythmias. | 27733687 | 2016 |
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0.700 | GeneticVariation | UNIPROT | Enhanced Cytosolic Ca2+ Activation Underlies a Common Defect of Central Domain Cardiac Ryanodine Receptor Mutations Linked to Arrhythmias. | 27733687 | 2016 |
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0.700 | GeneticVariation | UNIPROT | Enhanced Cytosolic Ca2+ Activation Underlies a Common Defect of Central Domain Cardiac Ryanodine Receptor Mutations Linked to Arrhythmias. | 27733687 | 2016 |