Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121964856
rs121964856
TNNT2
T 0.700 CausalMutation CLINVAR A low prevalence of sarcomeric gene variants in a Chinese cohort with left ventricular non-compaction. 24691700

2015
dbSNP: rs121964856
rs121964856
TNNT2
T 0.700 CausalMutation CLINVAR Clinical phenotype and outcome of hypertrophic cardiomyopathy associated with thin-filament gene mutations. 25524337

2014
dbSNP: rs121964856
rs121964856
TNNT2
T 0.700 CausalMutation CLINVAR Early results of sarcomeric gene screening from the Egyptian National BA-HCM Program. 23233322

2013
dbSNP: rs121964856
rs121964856
TNNT2
T 0.700 CausalMutation CLINVAR Long-term outcomes in hypertrophic cardiomyopathy caused by mutations in the cardiac troponin T gene. 22144547

2012
dbSNP: rs121964856
rs121964856
TNNT2
T 0.700 CausalMutation CLINVAR IMAGE CARDIO MED: Inducible malignant ventricular tachyarrhythmia in a patient with genotyped hypertrophic cardiomyopathy in absence of left ventricular hypertrophy or enlargement. 19487599

2009
dbSNP: rs121964856
rs121964856
TNNT2
T 0.700 CausalMutation CLINVAR Late gadolinium enhancement cardiovascular magnetic resonance in genotyped hypertrophic cardiomyopathy with normal phenotype. 19087273

2008
dbSNP: rs121964856
rs121964856
TNNT2
T 0.700 CausalMutation CLINVAR Shared genetic causes of cardiac hypertrophy in children and adults. 18403758

2008
dbSNP: rs121964856
rs121964856
TNNT2
T 0.700 CausalMutation CLINVAR Changes in the chemical and dynamic properties of cardiac troponin T cause discrete cardiomyopathies in transgenic mice. 16326803

2005
dbSNP: rs121964856
rs121964856
TNNT2
T 0.700 CausalMutation CLINVAR Alterations in thin filament regulation induced by a human cardiac troponin T mutant that causes dilated cardiomyopathy are distinct from those induced by troponin T mutants that cause hypertrophic cardiomyopathy. 12186860

2002
dbSNP: rs121964856
rs121964856
TNNT2
T 0.700 CausalMutation CLINVAR Ca(2+) activation of myofilaments from transgenic mouse hearts expressing R92Q mutant cardiac troponin T. 11158969

2001
dbSNP: rs121964856
rs121964856
TNNT2
T 0.700 CausalMutation CLINVAR Disease-causing mutations in cardiac troponin T: identification of a critical tropomyosin-binding region. 11606294

2001
dbSNP: rs121964856
rs121964856
TNNT2
T 0.700 CausalMutation CLINVAR Ca2+ sensitization and potentiation of the maximum level of myofibrillar ATPase activity caused by mutations of troponin T found in familial hypertrophic cardiomyopathy. 10085122

1999
dbSNP: rs121964856
rs121964856
TNNT2
T 0.700 CausalMutation CLINVAR Cardiac troponin T mutations result in allele-specific phenotypes in a mouse model for hypertrophic cardiomyopathy. 10449439

1999
dbSNP: rs121964856
rs121964856
TNNT2
T 0.700 CausalMutation CLINVAR Dominant-negative effect of a mutant cardiac troponin T on cardiac structure and function in transgenic mice. 9788962

1998
dbSNP: rs121964856
rs121964856
TNNT2
T 0.700 CausalMutation CLINVAR Sudden death due to troponin T mutations. 9060892

1997
dbSNP: rs121964856
rs121964856
TNNT2
T 0.700 CausalMutation CLINVAR Clinical manifestations of hypertrophic cardiomyopathy with mutations in the cardiac beta-myosin heavy chain gene or cardiac troponin T gene. 8951566

1996
dbSNP: rs121964856
rs121964856
TNNT2
T 0.700 CausalMutation CLINVAR Mutations in the genes for cardiac troponin T and alpha-tropomyosin in hypertrophic cardiomyopathy. 7898523

1995
dbSNP: rs121964856
rs121964856
TNNT2
T 0.700 CausalMutation CLINVAR Alpha-tropomyosin and cardiac troponin T mutations cause familial hypertrophic cardiomyopathy: a disease of the sarcomere. 8205619

1994