rs397516455
|
|
G |
0.700 |
GeneticVariation |
CLINVAR |
Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.
|
27532257 |
2017 |
rs397516457
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.
|
27532257 |
2017 |
rs45586240
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.
|
27532257 |
2017 |
rs727504245
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
Nonfamilial Hypertrophic Cardiomyopathy: Prevalence, Natural History, and Clinical Implications.
|
28408708 |
2017 |
rs727504245
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.
|
27532257 |
2017 |
rs727504246
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.
|
27532257 |
2017 |
rs397516455
|
|
G |
0.700 |
GeneticVariation |
CLINVAR |
Evaluation of the Mayo Clinic Phenotype-Based Genotype Predictor Score in Patients with Clinically Diagnosed Hypertrophic Cardiomyopathy.
|
26914223 |
2016 |
rs397516456
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Clinical and Prognostic Profiles of Cardiomyopathies Caused by Mutations in the Troponin T Gene.
|
26507537 |
2016 |
rs397516470
|
|
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 |
rs121964856
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
A low prevalence of sarcomeric gene variants in a Chinese cohort with left ventricular non-compaction.
|
24691700 |
2015 |
rs121964860
|
|
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 |
rs74315379
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Exome Sequencing Identifies Pathogenic and Modifier Mutations in a Child With Sporadic Dilated Cardiomyopathy.
|
26656454 |
2015 |
rs121964856
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Clinical phenotype and outcome of hypertrophic cardiomyopathy associated with thin-filament gene mutations.
|
25524337 |
2014 |
rs397516455
|
|
G |
0.700 |
GeneticVariation |
CLINVAR |
Sarcomere mutation-specific expression patterns in human hypertrophic cardiomyopathy.
|
25031304 |
2014 |
rs397516463
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Clinical phenotype and outcome of hypertrophic cardiomyopathy associated with thin-filament gene mutations.
|
25524337 |
2014 |
rs397516470
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Allosteric effects of cardiac troponin TNT1 mutations on actomyosin binding: a novel pathogenic mechanism for hypertrophic cardiomyopathy.
|
24480310 |
2014 |
rs397516470
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Hypertrophic cardiomyopathy: one gene … but many phenotypes.
|
24792744 |
2014 |
rs397516484
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Characterization of a phenotype-based genetic test prediction score for unrelated patients with hypertrophic cardiomyopathy.
|
24793961 |
2014 |
rs74315379
|
|
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 |
rs121964855
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Analysis of the molecular pathogenesis of cardiomyopathy-causing cTnT mutants I79N, ΔE96, and ΔK210.
|
23663841 |
2013 |
rs121964856
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Early results of sarcomeric gene screening from the Egyptian National BA-HCM Program.
|
23233322 |
2013 |
rs397516463
|
|
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 |
rs397516463
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Mutations in the cardiac troponin T gene show various prognoses in Japanese patients with hypertrophic cardiomyopathy.
|
23494605 |
2013 |
rs397516471
|
|
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 |
rs397516471
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Whole exome sequencing identifies a troponin T mutation hot spot in familial dilated cardiomyopathy.
|
24205113 |
2013 |