Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894729
rs104894729
T 0.710 CausalMutation CLINVAR [Clinical characteristics and genetic analysis of three pediatric patients with idiopathic restrictive cardiomyopathy]. 23906401

2013

dbSNP: rs104894729
rs104894729
T 0.710 CausalMutation CLINVAR Disease-related cardiac troponins alter thin filament Ca2+ association and dissociation rates. 22675533

2012

dbSNP: rs104894729
rs104894729
T 0.710 CausalMutation CLINVAR Combinatorial effects of double cardiomyopathy mutant alleles in rodent myocytes: a predictive cellular model of myofilament dysregulation in disease. 20161772

2010

dbSNP: rs104894729
rs104894729
T 0.710 CausalMutation CLINVAR Some cardiomyopathy-causing troponin I mutations stabilize a functional intermediate actin state. 19289050

2009

dbSNP: rs104894729
rs104894729
T 0.710 CausalMutation CLINVAR Genetic and clinical profile of Indian patients of idiopathic restrictive cardiomyopathy with and without hypertrophy. 19449150

2009

dbSNP: rs104894729
rs104894729
T 0.710 CausalMutation CLINVAR Impaired relaxation is the main manifestation in transgenic mice expressing a restrictive cardiomyopathy mutation, R193H, in cardiac TnI. 18408133

2008

dbSNP: rs104894729
rs104894729
T 0.710 CausalMutation CLINVAR Thin filament disinhibition by restrictive cardiomyopathy mutant R193H troponin I induces Ca2+-independent mechanical tone and acute myocyte remodeling. 17463320

2007

dbSNP: rs104894729
rs104894729
T 0.710 CausalMutation CLINVAR Increased Ca2+ affinity of cardiac thin filaments reconstituted with cardiomyopathy-related mutant cardiac troponin I. 16531415

2006

dbSNP: rs104894729
rs104894729
T 0.710 CausalMutation CLINVAR A point mutation (R192H) in the C-terminus of human cardiac troponin I causes diastolic dysfunction in transgenic mice. 17027633

2006

dbSNP: rs104894729
rs104894729
0.710 GeneticVariation BEFREE To determine whether five mutations in cTnI (L144Q, R145W, A171T, K178E, and R192H) associated with restrictive cardiomyopathy were distinguishable from hypertrophic cardiomyopathy-causing mutations in cTnI, actomyosin ATPase activity and skinned fiber studies were carried out. 15961398

2005

dbSNP: rs104894729
rs104894729
T 0.710 CausalMutation CLINVAR To determine whether five mutations in cTnI (L144Q, R145W, A171T, K178E, and R192H) associated with restrictive cardiomyopathy were distinguishable from hypertrophic cardiomyopathy-causing mutations in cTnI, actomyosin ATPase activity and skinned fiber studies were carried out. 15961398

2005

dbSNP: rs104894729
rs104894729
T 0.710 CausalMutation CLINVAR Idiopathic restrictive cardiomyopathy is part of the clinical expression of cardiac troponin I mutations. 12531876

2003

dbSNP: rs1382734231
rs1382734231
T 0.700 CausalMutation CLINVAR Novel pathogenic variants in filamin C identified in pediatric restrictive cardiomyopathy. 30260051

2018

dbSNP: rs1563005534
rs1563005534
G 0.700 CausalMutation CLINVAR Novel pathogenic variants in filamin C identified in pediatric restrictive cardiomyopathy. 30260051

2018

dbSNP: rs397516153
rs397516153
A 0.700 CausalMutation CLINVAR Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. 27532257

2017

dbSNP: rs369634007
rs369634007
G 0.700 GeneticVariation CLINVAR Discovery of a potentially deleterious variant in TMEM87B in a patient with a hemizygous 2q13 microdeletion suggests a recessive condition characterized by congenital heart disease and restrictive cardiomyopathy. 27148590

2016

dbSNP: rs727503260
rs727503260
T 0.700 CausalMutation CLINVAR Phenotype and prognostic correlations of the converter region mutations affecting the β myosin heavy chain. 25935763

2015

dbSNP: rs727503260
rs727503260
T 0.700 CausalMutation CLINVAR Clinical phenotype and outcome of hypertrophic cardiomyopathy associated with thin-filament gene mutations. 25524337

2014

dbSNP: rs727503260
rs727503260
T 0.700 CausalMutation CLINVAR Comparison of echocardiographic and cardiac magnetic resonance imaging in hypertrophic cardiomyopathy sarcomere mutation carriers without left ventricular hypertrophy. 23690394

2013

dbSNP: rs727503260
rs727503260
T 0.700 CausalMutation CLINVAR T1 measurements identify extracellular volume expansion in hypertrophic cardiomyopathy sarcomere mutation carriers with and without left ventricular hypertrophy. 23549607

2013

dbSNP: rs727503260
rs727503260
T 0.700 CausalMutation CLINVAR Conduction abnormalities in pediatric patients with restrictive cardiomyopathy. 22260945

2012

dbSNP: rs727503499
rs727503499
A 0.700 CausalMutation CLINVAR Recurrent and founder mutations in the Netherlands: cardiac Troponin I (TNNI3) gene mutations as a cause of severe forms of hypertrophic and restrictive cardiomyopathy. 21533915

2011

dbSNP: rs727503244
rs727503244
G 0.700 GeneticVariation CLINVAR Myocardial fibrosis as an early manifestation of hypertrophic cardiomyopathy. 20818890

2010

dbSNP: rs727503260
rs727503260
T 0.700 CausalMutation CLINVAR A fetus with hypertrophic cardiomyopathy, restrictive, and single-ventricle physiology, and a beta-myosin heavy chain mutation. 20394946

2010

dbSNP: rs727503260
rs727503260
T 0.700 CausalMutation CLINVAR Development of a high resolution melting method for the detection of genetic variations in hypertrophic cardiomyopathy. 20800588

2010