| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
T | 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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T | 0.700 | CausalMutation | CLINVAR | Disease-related cardiac troponins alter thin filament Ca2+ association and dissociation rates. | 22675533 | 2012 |
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T | 0.700 | CausalMutation | CLINVAR | Combinatorial effects of double cardiomyopathy mutant alleles in rodent myocytes: a predictive cellular model of myofilament dysregulation in disease. | 20161772 | 2010 |
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T | 0.700 | CausalMutation | CLINVAR | Some cardiomyopathy-causing troponin I mutations stabilize a functional intermediate actin state. | 19289050 | 2009 |
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T | 0.700 | CausalMutation | CLINVAR | Allele and species dependent contractile defects by restrictive and hypertrophic cardiomyopathy-linked troponin I mutants. | 18423659 | 2008 |
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T | 0.700 | CausalMutation | CLINVAR | Impaired relaxation is the main manifestation in transgenic mice expressing a restrictive cardiomyopathy mutation, R193H, in cardiac TnI. | 18408133 | 2008 |
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T | 0.700 | CausalMutation | CLINVAR | Thin filament disinhibition by restrictive cardiomyopathy mutant R193H troponin I induces Ca2+-independent mechanical tone and acute myocyte remodeling. | 17463320 | 2007 |
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|
T | 0.700 | CausalMutation | CLINVAR | Increased Ca2+ affinity of cardiac thin filaments reconstituted with cardiomyopathy-related mutant cardiac troponin I. | 16531415 | 2006 |
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T | 0.700 | CausalMutation | CLINVAR | A point mutation (R192H) in the C-terminus of human cardiac troponin I causes diastolic dysfunction in transgenic mice. | 17027633 | 2006 |
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T | 0.700 | CausalMutation | CLINVAR | Idiopathic restrictive cardiomyopathy is part of the clinical expression of cardiac troponin I mutations. | 12531876 | 2003 |
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T | 0.700 | GeneticVariation | CLINVAR |