Variant | Gene | Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||||
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T | 0.700 | CausalMutation | CLINVAR | |||||||||
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G | 0.700 | CausalMutation | CLINVAR | Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. | 27532257 | 2017 | ||||||
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G | 0.700 | CausalMutation | CLINVAR | PLN-encoded phospholamban mutation in a large cohort of hypertrophic cardiomyopathy cases: summary of the literature and implications for genetic testing. | 21167350 | 2011 | ||||||
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G | 0.700 | GeneticVariation | CLINVAR | |||||||||
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G | 0.700 | CausalMutation | CLINVAR | Human phospholamban null results in lethal dilated cardiomyopathy revealing a critical difference between mouse and human. | 12639993 | 2003 | ||||||
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G | 0.700 | CausalMutation | CLINVAR | Results of clinical genetic testing of 2,912 probands with hypertrophic cardiomyopathy: expanded panels offer limited additional sensitivity. | 25611685 | 2015 | ||||||
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G | 0.700 | CausalMutation | CLINVAR | Genetic modifiers to the PLN L39X mutation in a patient with DCM and sustained ventricular tachycardia? | 26535225 | 2015 | ||||||
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G | 0.700 | CausalMutation | CLINVAR | |||||||||
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G | 0.700 | CausalMutation | CLINVAR | Genetic screening of calcium regulation genes in familial hypertrophic cardiomyopathy. | 17655857 | 2007 | ||||||
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G | 0.700 | GeneticVariation | CLINVAR | |||||||||
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G | 0.700 | GeneticVariation | CLINVAR | |||||||||
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T | 0.700 | CausalMutation | CLINVAR | Targeted sequence capture and GS-FLX Titanium sequencing of 23 hypertrophic and dilated cardiomyopathy genes: implementation into diagnostics. | 23785128 | 2013 | ||||||
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T | 0.700 | CausalMutation | CLINVAR | A mutation in the human phospholamban gene, deleting arginine 14, results in lethal, hereditary cardiomyopathy. | 16432188 | 2006 | ||||||
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T | 0.700 | CausalMutation | CLINVAR | Lethal, hereditary mutants of phospholamban elude phosphorylation by protein kinase A. | 22707725 | 2012 | ||||||
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T | 0.700 | CausalMutation | CLINVAR | Hydrophobic imbalance in the cytoplasmic domain of phospholamban is a determinant for lethal dilated cardiomyopathy. | 22427649 | 2012 | ||||||
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T | 0.700 | CausalMutation | CLINVAR | The human phospholamban Arg14-deletion mutant localizes to plasma membrane and interacts with the Na/K-ATPase. | 22155237 | 2012 | ||||||
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T | 0.700 | CausalMutation | CLINVAR | Genetic deletion of arginine 14 in phospholamban causes dilated cardiomyopathy with attenuated electrocardiographic R amplitudes. | 19324307 | 2009 | ||||||
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T | 0.700 | CausalMutation | CLINVAR | Lethal, hereditary mutants of phospholamban elude phosphorylation by protein kinase A. | 22707725 | 2012 | ||||||
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T | 0.700 | CausalMutation | CLINVAR | Recurrent and founder mutations in the Netherlands-Phospholamban p.Arg14del mutation causes arrhythmogenic cardiomyopathy. | 23568436 | 2013 | ||||||
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T | 0.700 | CausalMutation | CLINVAR | Phospholamban R14del mutation in patients diagnosed with dilated cardiomyopathy or arrhythmogenic right ventricular cardiomyopathy: evidence supporting the concept of arrhythmogenic cardiomyopathy. | 22820313 | 2012 | ||||||
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T | 0.700 | CausalMutation | CLINVAR | Phospholamban R14del mutation in patients diagnosed with dilated cardiomyopathy or arrhythmogenic right ventricular cardiomyopathy: evidence supporting the concept of arrhythmogenic cardiomyopathy. | 22820313 | 2012 | ||||||
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T | 0.700 | CausalMutation | CLINVAR | The human phospholamban Arg14-deletion mutant localizes to plasma membrane and interacts with the Na/K-ATPase. | 22155237 | 2012 | ||||||
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T | 0.700 | CausalMutation | CLINVAR | |||||||||
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T | 0.700 | CausalMutation | CLINVAR | A mutation in the human phospholamban gene, deleting arginine 14, results in lethal, hereditary cardiomyopathy. | 16432188 | 2006 | ||||||
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T | 0.700 | CausalMutation | CLINVAR | A mutation in the human phospholamban gene, deleting arginine 14, results in lethal, hereditary cardiomyopathy. | 16432188 | 2006 |