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 Usefulness of running wheel for detection of congestive heart failure in dilated cardiomyopathy mouse model. 23383212

2013
dbSNP: rs45578238
rs45578238
TNNT2
A 0.700 CausalMutation CLINVAR Familial dilated cardiomyopathy mutations uncouple troponin I phosphorylation from changes in myofibrillar Ca²⁺ sensitivity. 23539503

2013
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: rs397516471
rs397516471
TNNT2
T 0.700 GeneticVariation CLINVAR Genetic testing for dilated cardiomyopathy in clinical practice. 22464770

2012
dbSNP: rs45578238
rs45578238
TNNT2
A 0.700 CausalMutation CLINVAR Disease-related cardiac troponins alter thin filament Ca2+ association and dissociation rates. 22675533

2012
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: rs397516471
rs397516471
TNNT2
T 0.700 GeneticVariation CLINVAR Dilated cardiomyopathy caused by a novel TNNT2 mutation-added value of genetic testing in the correct identification of affected subjects. 19324435

2010
dbSNP: rs45578238
rs45578238
TNNT2
A 0.700 CausalMutation CLINVAR Cardiomyopathy-causing deletion K210 in cardiac troponin T alters phosphorylation propensity of sarcomeric proteins. 20079745

2010
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: rs45525839
rs45525839
TNNT2
C 0.700 GeneticVariation CLINVAR Clinical and functional characterization of TNNT2 mutations identified in patients with dilated cardiomyopathy. 20031601

2009
dbSNP: rs45578238
rs45578238
TNNT2
A 0.700 CausalMutation CLINVAR Clinical and functional characterization of TNNT2 mutations identified in patients with dilated cardiomyopathy. 20031601

2009
dbSNP: rs397516464
rs397516464
TNNT2
G 0.700 GeneticVariation CLINVAR Mutations in sarcomere protein genes in left ventricular noncompaction. 18506004

2008
dbSNP: rs45525839
rs45525839
TNNT2
C 0.700 GeneticVariation CLINVAR Coding sequence mutations identified in MYH7, TNNT2, SCN5A, CSRP3, LBD3, and TCAP from 313 patients with familial or idiopathic dilated cardiomyopathy. 19412328

2008
dbSNP: rs45578238
rs45578238
TNNT2
A 0.700 CausalMutation CLINVAR The role of cardiac troponin T quantity and function in cardiac development and dilated cardiomyopathy. 18612386

2008
dbSNP: rs397516464
rs397516464
TNNT2
G 0.700 GeneticVariation CLINVAR Dilated cardiomyopathy mutations in three thin filament regulatory proteins result in a common functional phenotype. 15923195

2005
dbSNP: rs45578238
rs45578238
TNNT2
A 0.700 CausalMutation CLINVAR Characterization of troponin T dilated cardiomyopathy mutations in the fetal troponin isoform. 15623536

2005
dbSNP: rs730881097
rs730881097
TNNT2
A 0.700 GeneticVariation CLINVAR Novel troponin T mutation in familial dilated cardiomyopathy with gender-dependant severity. 15464434

2005
dbSNP: rs397516464
rs397516464
TNNT2
G 0.700 GeneticVariation CLINVAR Severe disease expression of cardiac troponin C and T mutations in patients with idiopathic dilated cardiomyopathy. 15542288

2004
dbSNP: rs45578238
rs45578238
TNNT2
A 0.700 CausalMutation CLINVAR Severe disease expression of cardiac troponin C and T mutations in patients with idiopathic dilated cardiomyopathy. 15542288

2004
dbSNP: rs45578238
rs45578238
TNNT2
A 0.700 CausalMutation CLINVAR Different functional properties of troponin T mutants that cause dilated cardiomyopathy. 12923187

2003
dbSNP: rs45578238
rs45578238
TNNT2
A 0.700 CausalMutation CLINVAR Cardiac troponin T lysine 210 deletion in a family with dilated cardiomyopathy. 11862580

2002
dbSNP: rs45578238
rs45578238
TNNT2
A 0.700 CausalMutation CLINVAR Ca(2+)-desensitizing effect of a deletion mutation Delta K210 in cardiac troponin T that causes familial dilated cardiomyopathy. 11773635

2002