TNNT2, troponin T2, cardiac type, 7139

N. diseases: 79; N. variants: 73
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121964860
rs121964860
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C1832243
Disease:
CARDIOMYOPATHY, DILATED, 1D (disorder) 		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: rs397516457
rs397516457
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C1861864
Disease:
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
dbSNP: rs727504245
rs727504245
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C1861864
Disease:
Cardiomyopathy, Familial Hypertrophic, 2 		A 0.800 GeneticVariation CLINVAR Nonfamilial Hypertrophic Cardiomyopathy: Prevalence, Natural History, and Clinical Implications. 28408708 2017
dbSNP: rs727504245
rs727504245
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C1861864
Disease:
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
dbSNP: rs727504246
rs727504246
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C1861864
Disease:
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
dbSNP: rs74315379
rs74315379
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C1832243
Disease:
CARDIOMYOPATHY, DILATED, 1D (disorder) 		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: rs74315380
rs74315380
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C1832243
Disease:
CARDIOMYOPATHY, DILATED, 1D (disorder) 		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: rs397516456
rs397516456
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C1861864
Disease:
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
dbSNP: rs121964856
rs121964856
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C1861864
Disease:
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
dbSNP: rs121964860
rs121964860
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C1832243
Disease:
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
dbSNP: rs121964860
rs121964860
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C1832243
Disease:
CARDIOMYOPATHY, DILATED, 1D (disorder) 		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
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C1832243
Disease:
CARDIOMYOPATHY, DILATED, 1D (disorder) 		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
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C1832243
Disease:
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
dbSNP: rs74315380
rs74315380
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C1832243
Disease:
CARDIOMYOPATHY, DILATED, 1D (disorder) 		0.800 GeneticVariation UNIPROT ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing. 25356965 2015
dbSNP: rs121964856
rs121964856
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C1861864
Disease:
Cardiomyopathy, Familial Hypertrophic, 2 		T 0.800 CausalMutation CLINVAR Clinical phenotype and outcome of hypertrophic cardiomyopathy associated with thin-filament gene mutations. 25524337 2014
dbSNP: rs397516463
rs397516463
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C1861864
Disease:
Cardiomyopathy, Familial Hypertrophic, 2 		A 0.800 CausalMutation CLINVAR Clinical phenotype and outcome of hypertrophic cardiomyopathy associated with thin-filament gene mutations. 25524337 2014
dbSNP: rs397516484
rs397516484
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C1861864
Disease:
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
dbSNP: rs74315379
rs74315379
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C1832243
Disease:
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
dbSNP: rs121964855
rs121964855
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C1861864
Disease:
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
dbSNP: rs121964856
rs121964856
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C1861864
Disease:
Cardiomyopathy, Familial Hypertrophic, 2 		T 0.800 CausalMutation CLINVAR Early results of sarcomeric gene screening from the Egyptian National BA-HCM Program. 23233322 2013
dbSNP: rs121964860
rs121964860
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C1832243
Disease:
CARDIOMYOPATHY, DILATED, 1D (disorder) 		0.800 GeneticVariation UNIPROT ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. 23788249 2013
dbSNP: rs12564445
rs12564445
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C0523953
Disease:
Cardiac troponin T measurement 		A 0.800 GeneticVariation GWASCAT Association of genome-wide variation with highly sensitive cardiac troponin-T levels in European Americans and Blacks: a meta-analysis from atherosclerosis risk in communities and cardiovascular health studies. 23247143 2013
dbSNP: rs12564445
rs12564445
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C0523953
Disease:
Cardiac troponin T measurement 		A 0.800 GeneticVariation GWASDB Association of genome-wide variation with highly sensitive cardiac troponin-T levels in European Americans and Blacks: a meta-analysis from atherosclerosis risk in communities and cardiovascular health studies. 23247143 2013
dbSNP: rs397516463
rs397516463
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C1861864
Disease:
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
dbSNP: rs397516463
rs397516463
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C1861864
Disease:
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