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: rs45586240
rs45586240
TNNT2
A 0.700 GeneticVariation CLINVAR

dbSNP: rs876658027
rs876658027
TNNT2
AC 0.700 GeneticVariation CLINVAR

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

2002
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: 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: rs74315379
rs74315379
TNNT2
A 0.720 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 Characterization of troponin T dilated cardiomyopathy mutations in the fetal troponin isoform. 15623536

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

2003
dbSNP: rs45578238
rs45578238
TNNT2
A 0.700 CausalMutation CLINVAR Different functional properties of troponin T mutants that cause dilated cardiomyopathy. 12923187

2003
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: 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: 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: 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: 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: 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: rs74315379
rs74315379
TNNT2
A 0.720 CausalMutation CLINVAR Disease-related cardiac troponins alter thin filament Ca2+ association and dissociation rates. 22675533

2012
dbSNP: rs74315380
rs74315380
TNNT2
A 0.720 GeneticVariation CLINVAR Disease-related cardiac troponins alter thin filament Ca2+ association and dissociation rates. 22675533

2012