Gene: TNNT2 ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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
dbSNP: rs74315380
rs74315380
TNNT2
A 0.720 GeneticVariation CLINVAR Sarcomere gene mutations in isolated left ventricular noncompaction cardiomyopathy do not predict clinical phenotype. 21551322

2011
dbSNP: rs74315380
rs74315380
TNNT2
A 0.720 GeneticVariation CLINVAR Dilated cardiomyopathy mutations in three thin filament regulatory proteins result in a common functional phenotype. 15923195

2005
dbSNP: rs74315380
rs74315380
TNNT2
A 0.720 GeneticVariation CLINVAR Disease-related cardiac troponins alter thin filament Ca2+ association and dissociation rates. 22675533

2012
dbSNP: rs74315380
rs74315380
TNNT2
A 0.720 GeneticVariation CLINVAR Mutations in sarcomere protein genes in left ventricular noncompaction. 18506004

2008
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
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 GeneticVariation CLINVAR RIKADA Study Reveals Risk Factors in Pediatric Primary Cardiomyopathy. 31333075

2019
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: 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: rs730881097
rs730881097
TNNT2
A 0.700 GeneticVariation CLINVAR Novel troponin T mutation in familial dilated cardiomyopathy with gender-dependant severity. 15464434

2005
dbSNP: rs876658027
rs876658027
TNNT2
AC 0.700 GeneticVariation CLINVAR

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

2001