TNNT2, troponin T2, cardiac type, 7139

N. diseases: 79; N. variants: 73
Disease: CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 3 (disorder) ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs397516455
rs397516455
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C2676271
Disease:
CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 3 (disorder) 		G 0.700 GeneticVariation CLINVAR Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. 27532257 2017
dbSNP: rs397516457
rs397516457
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C2676271
Disease:
CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 3 (disorder) 		A 0.700 CausalMutation CLINVAR Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. 27532257 2017
dbSNP: rs45586240
rs45586240
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C2676271
Disease:
CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 3 (disorder) 		A 0.700 GeneticVariation CLINVAR Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. 27532257 2017
dbSNP: rs727504245
rs727504245
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C2676271
Disease:
CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 3 (disorder) 		A 0.700 GeneticVariation CLINVAR Nonfamilial Hypertrophic Cardiomyopathy: Prevalence, Natural History, and Clinical Implications. 28408708 2017
dbSNP: rs727504245
rs727504245
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C2676271
Disease:
CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 3 (disorder) 		A 0.700 GeneticVariation CLINVAR Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. 27532257 2017
dbSNP: rs727504246
rs727504246
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C2676271
Disease:
CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 3 (disorder) 		A 0.700 CausalMutation CLINVAR Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. 27532257 2017
dbSNP: rs397516455
rs397516455
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C2676271
Disease:
CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 3 (disorder) 		G 0.700 GeneticVariation CLINVAR Evaluation of the Mayo Clinic Phenotype-Based Genotype Predictor Score in Patients with Clinically Diagnosed Hypertrophic Cardiomyopathy. 26914223 2016
dbSNP: rs397516456
rs397516456
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C2676271
Disease:
CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 3 (disorder) 		A 0.700 CausalMutation CLINVAR Clinical and Prognostic Profiles of Cardiomyopathies Caused by Mutations in the Troponin T Gene. 26507537 2016
dbSNP: rs397516470
rs397516470
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C2676271
Disease:
CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 3 (disorder) 		T 0.700 CausalMutation CLINVAR Mutations in troponin T associated with Hypertrophic Cardiomyopathy increase Ca(2+)-sensitivity and suppress the modulation of Ca(2+)-sensitivity by troponin I phosphorylation. 27036851 2016
dbSNP: rs121964856
rs121964856
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C2676271
Disease:
CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 3 (disorder) 		T 0.700 CausalMutation CLINVAR A low prevalence of sarcomeric gene variants in a Chinese cohort with left ventricular non-compaction. 24691700 2015
dbSNP: rs121964860
rs121964860
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C2676271
Disease:
CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 3 (disorder) 		T 0.700 CausalMutation CLINVAR Establishing disease causality for a novel gene variant in familial dilated cardiomyopathy using a functional in-vitro assay of regulated thin filaments and human cardiac myosin. 26498512 2015
dbSNP: rs74315379
rs74315379
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C2676271
Disease:
CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 3 (disorder) 		A 0.700 CausalMutation CLINVAR Exome Sequencing Identifies Pathogenic and Modifier Mutations in a Child With Sporadic Dilated Cardiomyopathy. 26656454 2015
dbSNP: rs121964856
rs121964856
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C2676271
Disease:
CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 3 (disorder) 		T 0.700 CausalMutation CLINVAR Clinical phenotype and outcome of hypertrophic cardiomyopathy associated with thin-filament gene mutations. 25524337 2014
dbSNP: rs397516455
rs397516455
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C2676271
Disease:
CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 3 (disorder) 		G 0.700 GeneticVariation CLINVAR Sarcomere mutation-specific expression patterns in human hypertrophic cardiomyopathy. 25031304 2014
dbSNP: rs397516463
rs397516463
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C2676271
Disease:
CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 3 (disorder) 		A 0.700 CausalMutation CLINVAR Clinical phenotype and outcome of hypertrophic cardiomyopathy associated with thin-filament gene mutations. 25524337 2014
dbSNP: rs397516470
rs397516470
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C2676271
Disease:
CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 3 (disorder) 		T 0.700 CausalMutation CLINVAR Allosteric effects of cardiac troponin TNT1 mutations on actomyosin binding: a novel pathogenic mechanism for hypertrophic cardiomyopathy. 24480310 2014
dbSNP: rs397516470
rs397516470
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C2676271
Disease:
CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 3 (disorder) 		T 0.700 CausalMutation CLINVAR Hypertrophic cardiomyopathy: one gene … but many phenotypes. 24792744 2014
dbSNP: rs397516484
rs397516484
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C2676271
Disease:
CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 3 (disorder) 		G 0.700 CausalMutation CLINVAR Characterization of a phenotype-based genetic test prediction score for unrelated patients with hypertrophic cardiomyopathy. 24793961 2014
dbSNP: rs74315379
rs74315379
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C2676271
Disease:
CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 3 (disorder) 		A 0.700 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: rs121964855
rs121964855
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C2676271
Disease:
CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 3 (disorder) 		T 0.700 CausalMutation CLINVAR Analysis of the molecular pathogenesis of cardiomyopathy-causing cTnT mutants I79N, ΔE96, and ΔK210. 23663841 2013
dbSNP: rs121964856
rs121964856
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C2676271
Disease:
CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 3 (disorder) 		T 0.700 CausalMutation CLINVAR Early results of sarcomeric gene screening from the Egyptian National BA-HCM Program. 23233322 2013
dbSNP: rs397516463
rs397516463
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C2676271
Disease:
CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 3 (disorder) 		A 0.700 CausalMutation CLINVAR Multiple gene mutations, not the type of mutation, are the modifier of left ventricle hypertrophy in patients with hypertrophic cardiomyopathy. 23283745 2013
dbSNP: rs397516463
rs397516463
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C2676271
Disease:
CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 3 (disorder) 		A 0.700 CausalMutation CLINVAR Mutations in the cardiac troponin T gene show various prognoses in Japanese patients with hypertrophic cardiomyopathy. 23494605 2013
dbSNP: rs397516471
rs397516471
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C2676271
Disease:
CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 3 (disorder) 		T 0.700 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: rs397516471
rs397516471
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C2676271
Disease:
CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 3 (disorder) 		T 0.700 CausalMutation CLINVAR Whole exome sequencing identifies a troponin T mutation hot spot in familial dilated cardiomyopathy. 24205113 2013