Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs74315379
rs74315379
TNNT2
0.800 GeneticVariation UNIPROT Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics. 27854360

2017
dbSNP: rs74315379
rs74315379
TNNT2
0.800 GeneticVariation UNIPROT ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing. 25356965

2015
dbSNP: rs74315379
rs74315379
TNNT2
A 0.800 CausalMutation CLINVAR Exome Sequencing Identifies Pathogenic and Modifier Mutations in a Child With Sporadic Dilated Cardiomyopathy. 26656454

2015
dbSNP: rs74315379
rs74315379
TNNT2
A 0.800 CausalMutation 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: rs74315379
rs74315379
TNNT2
0.800 GeneticVariation UNIPROT ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. 23788249

2013
dbSNP: rs74315379
rs74315379
TNNT2
A 0.800 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 0.800 CausalMutation CLINVAR Familial dilated cardiomyopathy mutations uncouple troponin I phosphorylation from changes in myofibrillar Ca²⁺ sensitivity. 23539503

2013
dbSNP: rs74315379
rs74315379
TNNT2
A 0.800 CausalMutation CLINVAR Clinical and mutational spectrum in a cohort of 105 unrelated patients with dilated cardiomyopathy. 21846512

2012
dbSNP: rs74315379
rs74315379
TNNT2
0.800 GeneticVariation UNIPROT Clinical and mutational spectrum in a cohort of 105 unrelated patients with dilated cardiomyopathy. 21846512

2012
dbSNP: rs74315379
rs74315379
TNNT2
A 0.800 CausalMutation CLINVAR Differential interactions of thin filament proteins in two cardiac troponin T mouse models of hypertrophic and dilated cardiomyopathies. 18349139

2008
dbSNP: rs74315379
rs74315379
TNNT2
A 0.800 CausalMutation CLINVAR The changes of the cardiac structure and function in cTnTR141W transgenic mice. 18606313

2008
dbSNP: rs74315379
rs74315379
TNNT2
0.800 GeneticVariation UNIPROT Mutation screening in dilated cardiomyopathy: prominent role of the beta myosin heavy chain gene. 15769782

2005
dbSNP: rs74315379
rs74315379
TNNT2
A 0.800 CausalMutation CLINVAR Mutation screening in dilated cardiomyopathy: prominent role of the beta myosin heavy chain gene. 15769782

2005
dbSNP: rs74315379
rs74315379
TNNT2
A 0.800 CausalMutation CLINVAR Characterization of troponin T dilated cardiomyopathy mutations in the fetal troponin isoform. 15623536

2005
dbSNP: rs74315379
rs74315379
TNNT2
0.800 GeneticVariation UNIPROT Severe disease expression of cardiac troponin C and T mutations in patients with idiopathic dilated cardiomyopathy. 15542288

2004
dbSNP: rs74315379
rs74315379
TNNT2
A 0.800 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 0.800 CausalMutation CLINVAR Different functional properties of troponin T mutants that cause dilated cardiomyopathy. 12923187

2003
dbSNP: rs74315379
rs74315379
TNNT2
A 0.800 CausalMutation CLINVAR Novel cardiac troponin T mutation as a cause of familial dilated cardiomyopathy. 11684629

2001
dbSNP: rs74315379
rs74315379
TNNT2
0.800 GeneticVariation UNIPROT Novel cardiac troponin T mutation as a cause of familial dilated cardiomyopathy. 11684629

2001
dbSNP: rs74315379
rs74315379
TNNT2
0.800 GeneticVariation UNIPROT Mutations in sarcomere protein genes as a cause of dilated cardiomyopathy. 11106718

2000