Gene: TNNT2 ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs397516454
rs397516454
TNNT2
C 0.700 GeneticVariation CLINVAR

dbSNP: rs397516461
rs397516461
TNNT2
T 0.700 GeneticVariation CLINVAR

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

2008
dbSNP: rs397516464
rs397516464
TNNT2
T 0.700 CausalMutation CLINVAR The landscape of genetic variation in dilated cardiomyopathy as surveyed by clinical DNA sequencing. 24503780

2014
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: rs397516471
rs397516471
TNNT2
T 0.700 GeneticVariation CLINVAR Novel Genetic Variants in BAG3 and TNNT2 in a Swedish Family with a History of Dilated Cardiomyopathy and Sudden Cardiac Death. 28669108

2017
dbSNP: rs397516471
rs397516471
TNNT2
T 0.700 GeneticVariation CLINVAR Genetic testing for dilated cardiomyopathy in clinical practice. 22464770

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: rs397516471
rs397516471
TNNT2
T 0.700 GeneticVariation CLINVAR Multiple Species Comparison of Cardiac Troponin T and Dystrophin: Unravelling the DNA behind Dilated Cardiomyopathy. 29367539

2017
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: 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 Disease-related cardiac troponins alter thin filament Ca2+ association and dissociation rates. 22675533

2012
dbSNP: rs45578238
rs45578238
TNNT2
A 0.700 CausalMutation CLINVAR Mutations in sarcomere protein genes as a cause of dilated cardiomyopathy. 11106718

2000
dbSNP: rs45578238
rs45578238
TNNT2
A 0.700 GeneticVariation CLINVAR RIKADA Study Reveals Risk Factors in Pediatric Primary Cardiomyopathy. 31333075

2019
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 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 The role of cardiac troponin T quantity and function in cardiac development and dilated cardiomyopathy. 18612386

2008
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 Clinical and functional characterization of TNNT2 mutations identified in patients with dilated cardiomyopathy. 20031601

2009
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: rs45578238
rs45578238
TNNT2
A 0.700 GeneticVariation CLINVAR Targeted panel sequencing in pediatric primary cardiomyopathy supports a critical role of TNNI3. 31568572

2019
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
dbSNP: rs45578238
rs45578238
TNNT2
A 0.700 CausalMutation CLINVAR Different functional properties of troponin T mutants that cause dilated cardiomyopathy. 12923187

2003