Gene: TNNT2 ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs45578238
rs45578238
TNNT2
A 0.700 CausalMutation CLINVAR Characterization of troponin T dilated cardiomyopathy mutations in the fetal troponin isoform. 15623536

2005
dbSNP: rs45578238
rs45578238
TNNT2
A 0.700 CausalMutation CLINVAR Recurrent and founder mutations in the Netherlands: mutation p.K217del in troponin T2, causing dilated cardiomyopathy. 20978592

2010
dbSNP: rs45586240
rs45586240
TNNT2
A 0.700 GeneticVariation CLINVAR

dbSNP: rs483352832
rs483352832
TNNT2
A 0.700 GeneticVariation CLINVAR Evaluation of ACMG-Guideline-Based Variant Classification of Cancer Susceptibility and Non-Cancer-Associated Genes in Families Affected by Breast Cancer. 27153395

2016
dbSNP: rs483352832
rs483352832
TNNT2
A 0.700 GeneticVariation CLINVAR A novel arginine to tryptophan (R144W) mutation in troponin T (cTnT) gene in an indian multigenerational family with dilated cardiomyopathy (FDCM). 24992688

2014
dbSNP: rs727503512
rs727503512
TNNT2
A 0.700 CausalMutation CLINVAR Cardiac structural and sarcomere genes associated with cardiomyopathy exhibit marked intolerance of genetic variation. 23074333

2012
dbSNP: rs727503512
rs727503512
TNNT2
A 0.700 CausalMutation CLINVAR Patient-specific induced pluripotent stem cells as a model for familial dilated cardiomyopathy. 22517884

2012
dbSNP: rs727503512
rs727503512
TNNT2
A 0.700 CausalMutation CLINVAR Effects of troponin T cardiomyopathy mutations on the calcium sensitivity of the regulated thin filament and the actomyosin cross-bridge kinetics of human β-cardiac myosin. 24367593

2013
dbSNP: rs727503512
rs727503512
TNNT2
A 0.700 CausalMutation CLINVAR Poor prognosis of rare sarcomeric gene variants in patients with dilated cardiomyopathy. 24119082

2013
dbSNP: rs727503512
rs727503512
TNNT2
A 0.700 CausalMutation CLINVAR Whole exome sequencing identifies a troponin T mutation hot spot in familial dilated cardiomyopathy. 24205113

2013
dbSNP: rs730881097
rs730881097
TNNT2
A 0.700 GeneticVariation CLINVAR Novel troponin T mutation in familial dilated cardiomyopathy with gender-dependant severity. 15464434

2005
dbSNP: rs74315379
rs74315379
TNNT2
A 0.720 CausalMutation CLINVAR Novel cardiac troponin T mutation as a cause of familial dilated cardiomyopathy. 11684629

2001
dbSNP: rs74315379
rs74315379
TNNT2
A 0.720 CausalMutation CLINVAR Mutation screening in dilated cardiomyopathy: prominent role of the beta myosin heavy chain gene. 15769782

2005
dbSNP: rs74315379
rs74315379
TNNT2
A 0.720 CausalMutation CLINVAR Dilated and hypertrophic cardiomyopathy mutations in troponin and alpha-tropomyosin have opposing effects on the calcium affinity of cardiac thin filaments. 17932326

2007
dbSNP: rs74315379
rs74315379
TNNT2
A 0.720 CausalMutation CLINVAR Characterization of troponin T dilated cardiomyopathy mutations in the fetal troponin isoform. 15623536

2005
dbSNP: rs74315379
rs74315379
TNNT2
A 0.720 CausalMutation CLINVAR Cardiac troponin T mutation R141W found in dilated cardiomyopathy stabilizes the troponin T-tropomyosin interaction and causes a Ca2+ desensitization. 14654368

2003
dbSNP: rs74315379
rs74315379
TNNT2
A 0.720 CausalMutation CLINVAR Dilated cardiomyopathy mutations in three thin filament regulatory proteins result in a common functional phenotype. 15923195

2005
dbSNP: rs74315379
rs74315379
TNNT2
A 0.720 CausalMutation CLINVAR Different functional properties of troponin T mutants that cause dilated cardiomyopathy. 12923187

2003
dbSNP: rs74315379
rs74315379
TNNT2
A 0.720 CausalMutation CLINVAR Familial dilated cardiomyopathy mutations uncouple troponin I phosphorylation from changes in myofibrillar Ca²⁺ sensitivity. 23539503

2013
dbSNP: rs74315379
rs74315379
TNNT2
A 0.720 CausalMutation CLINVAR Mutations in sarcomere protein genes in left ventricular noncompaction. 18506004

2008
dbSNP: rs74315379
rs74315379
TNNT2
A 0.720 CausalMutation CLINVAR Disease-related cardiac troponins alter thin filament Ca2+ association and dissociation rates. 22675533

2012
dbSNP: rs74315379
rs74315379
TNNT2
A 0.720 CausalMutation CLINVAR Effects of troponin T cardiomyopathy mutations on the calcium sensitivity of the regulated thin filament and the actomyosin cross-bridge kinetics of human β-cardiac myosin. 24367593

2013
dbSNP: rs74315379
rs74315379
TNNT2
A 0.720 CausalMutation CLINVAR [Association of TNNT2 gene mutations with idiopathic dilated cardiomyopathy in a Chengdu population]. 19253838

2008
dbSNP: rs74315380
rs74315380
TNNT2
A 0.720 GeneticVariation CLINVAR Severe disease expression of cardiac troponin C and T mutations in patients with idiopathic dilated cardiomyopathy. 15542288

2004
dbSNP: rs74315380
rs74315380
TNNT2
A 0.720 GeneticVariation CLINVAR Dilated and hypertrophic cardiomyopathy mutations in troponin and alpha-tropomyosin have opposing effects on the calcium affinity of cardiac thin filaments. 17932326

2007