rs397516457
×
Entrez Id:
7139
Gene Symbol:
TNNT2
TNNT2
Cardiomyopathy, Familial Hypertrophic, 2
A
0.800
CausalMutation
CLINVAR
Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.
27532257
2017
rs727504245
×
Entrez Id:
7139
Gene Symbol:
TNNT2
TNNT2
Cardiomyopathy, Familial Hypertrophic, 2
A
0.800
GeneticVariation
CLINVAR
Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.
27532257
2017
rs727504245
×
Entrez Id:
7139
Gene Symbol:
TNNT2
TNNT2
Cardiomyopathy, Familial Hypertrophic, 2
A
0.800
GeneticVariation
CLINVAR
Nonfamilial Hypertrophic Cardiomyopathy: Prevalence, Natural History, and Clinical Implications.
28408708
2017
rs727504246
×
Entrez Id:
7139
Gene Symbol:
TNNT2
TNNT2
Cardiomyopathy, Familial Hypertrophic, 2
A
0.800
CausalMutation
CLINVAR
Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.
27532257
2017
rs397516456
×
Entrez Id:
7139
Gene Symbol:
TNNT2
TNNT2
Cardiomyopathy, Familial Hypertrophic, 2
A
0.800
CausalMutation
CLINVAR
Clinical and Prognostic Profiles of Cardiomyopathies Caused by Mutations in the Troponin T Gene.
26507537
2016
rs121964856
×
Entrez Id:
7139
Gene Symbol:
TNNT2
TNNT2
Cardiomyopathy, Familial Hypertrophic, 2
T
0.800
CausalMutation
CLINVAR
A low prevalence of sarcomeric gene variants in a Chinese cohort with left ventricular non-compaction.
24691700
2015
rs121964860
×
Entrez Id:
7139
Gene Symbol:
TNNT2
TNNT2
CARDIOMYOPATHY, DILATED, 1D (disorder)
T
0.800
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
rs74315379
×
Entrez Id:
7139
Gene Symbol:
TNNT2
TNNT2
CARDIOMYOPATHY, DILATED, 1D (disorder)
A
0.800
CausalMutation
CLINVAR
Exome Sequencing Identifies Pathogenic and Modifier Mutations in a Child With Sporadic Dilated Cardiomyopathy.
26656454
2015
rs121964856
×
Entrez Id:
7139
Gene Symbol:
TNNT2
TNNT2
Cardiomyopathy, Familial Hypertrophic, 2
T
0.800
CausalMutation
CLINVAR
Clinical phenotype and outcome of hypertrophic cardiomyopathy associated with thin-filament gene mutations.
25524337
2014
rs397516463
×
Entrez Id:
7139
Gene Symbol:
TNNT2
TNNT2
Cardiomyopathy, Familial Hypertrophic, 2
A
0.800
CausalMutation
CLINVAR
Clinical phenotype and outcome of hypertrophic cardiomyopathy associated with thin-filament gene mutations.
25524337
2014
rs397516484
×
Entrez Id:
7139
Gene Symbol:
TNNT2
TNNT2
Cardiomyopathy, Familial Hypertrophic, 2
G
0.800
CausalMutation
CLINVAR
Characterization of a phenotype-based genetic test prediction score for unrelated patients with hypertrophic cardiomyopathy.
24793961
2014
rs74315379
×
Entrez Id:
7139
Gene Symbol:
TNNT2
TNNT2
CARDIOMYOPATHY, DILATED, 1D (disorder)
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
rs121964855
×
Entrez Id:
7139
Gene Symbol:
TNNT2
TNNT2
Cardiomyopathy, Familial Hypertrophic, 2
T
0.800
CausalMutation
CLINVAR
Analysis of the molecular pathogenesis of cardiomyopathy-causing cTnT mutants I79N, ΔE96, and ΔK210.
23663841
2013
rs121964856
×
Entrez Id:
7139
Gene Symbol:
TNNT2
TNNT2
Cardiomyopathy, Familial Hypertrophic, 2
T
0.800
CausalMutation
CLINVAR
Early results of sarcomeric gene screening from the Egyptian National BA-HCM Program.
23233322
2013
rs397516463
×
Entrez Id:
7139
Gene Symbol:
TNNT2
TNNT2
Cardiomyopathy, Familial Hypertrophic, 2
A
0.800
CausalMutation
CLINVAR
Multiple gene mutations, not the type of mutation, are the modifier of left ventricle hypertrophy in patients with hypertrophic cardiomyopathy.
23283745
2013
rs397516463
×
Entrez Id:
7139
Gene Symbol:
TNNT2
TNNT2
Cardiomyopathy, Familial Hypertrophic, 2
A
0.800
CausalMutation
CLINVAR
Mutations in the cardiac troponin T gene show various prognoses in Japanese patients with hypertrophic cardiomyopathy.
23494605
2013
rs397516484
×
Entrez Id:
7139
Gene Symbol:
TNNT2
TNNT2
Cardiomyopathy, Familial Hypertrophic, 2
G
0.800
CausalMutation
CLINVAR
Early results of sarcomeric gene screening from the Egyptian National BA-HCM Program.
23233322
2013
rs397516484
×
Entrez Id:
7139
Gene Symbol:
TNNT2
TNNT2
Cardiomyopathy, Familial Hypertrophic, 2
G
0.800
CausalMutation
CLINVAR
Multiple gene mutations, not the type of mutation, are the modifier of left ventricle hypertrophy in patients with hypertrophic cardiomyopathy.
23283745
2013
rs727504245
×
Entrez Id:
7139
Gene Symbol:
TNNT2
TNNT2
Cardiomyopathy, Familial Hypertrophic, 2
A
0.800
GeneticVariation
CLINVAR
Genetic complexity in hypertrophic cardiomyopathy revealed by high-throughput sequencing.
23396983
2013
rs727504246
×
Entrez Id:
7139
Gene Symbol:
TNNT2
TNNT2
Cardiomyopathy, Familial Hypertrophic, 2
A
0.800
CausalMutation
CLINVAR
A systematic approach to assessing the clinical significance of genetic variants.
24033266
2013
rs74315379
×
Entrez Id:
7139
Gene Symbol:
TNNT2
TNNT2
CARDIOMYOPATHY, DILATED, 1D (disorder)
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
rs74315379
×
Entrez Id:
7139
Gene Symbol:
TNNT2
TNNT2
CARDIOMYOPATHY, DILATED, 1D (disorder)
A
0.800
CausalMutation
CLINVAR
Familial dilated cardiomyopathy mutations uncouple troponin I phosphorylation from changes in myofibrillar Ca²⁺ sensitivity.
23539503
2013
rs74315380
×
Entrez Id:
7139
Gene Symbol:
TNNT2
TNNT2
CARDIOMYOPATHY, DILATED, 1D (disorder)
A
0.800
CausalMutation
CLINVAR
Poor prognosis of rare sarcomeric gene variants in patients with dilated cardiomyopathy.
24119082
2013
rs121964856
×
Entrez Id:
7139
Gene Symbol:
TNNT2
TNNT2
Cardiomyopathy, Familial Hypertrophic, 2
T
0.800
CausalMutation
CLINVAR
Long-term outcomes in hypertrophic cardiomyopathy caused by mutations in the cardiac troponin T gene.
22144547
2012
rs397516456
×
Entrez Id:
7139
Gene Symbol:
TNNT2
TNNT2
Cardiomyopathy, Familial Hypertrophic, 2
A
0.800
CausalMutation
CLINVAR
Correlation of molecular and functional effects of mutations in cardiac troponin T linked to familial hypertrophic cardiomyopathy: an integrative in silico/in vitro approach.
22334656
2012