|
rs397516074
|
|
Familial Hypertrophic Cardiomyopathy Type 4
|
T |
0.800 |
CausalMutation
|
CLINVAR |
Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.
|
27532257 |
2017 |
|
rs397516074
|
|
Familial Hypertrophic Cardiomyopathy Type 4
|
T |
0.800 |
CausalMutation
|
CLINVAR |
Results of clinical genetic testing of 2,912 probands with hypertrophic cardiomyopathy: expanded panels offer limited additional sensitivity.
|
25611685 |
2015 |
|
rs397516074
|
|
Familial Hypertrophic Cardiomyopathy Type 4
|
T |
0.800 |
CausalMutation
|
CLINVAR |
An Investigation of the Molecular Mechanism of Double cMyBP-C Mutation in a Patient with End-Stage Hypertrophic Cardiomyopathy.
|
25971843 |
2015 |
|
rs397516074
|
|
Familial Hypertrophic Cardiomyopathy Type 4
|
T |
0.800 |
CausalMutation
|
CLINVAR |
Distinguishing hypertrophic cardiomyopathy-associated mutations from background genetic noise.
|
24510615 |
2014 |
|
rs397516074
|
|
Familial Hypertrophic Cardiomyopathy Type 4
|
T |
0.800 |
CausalMutation
|
CLINVAR |
Characterization of a phenotype-based genetic test prediction score for unrelated patients with hypertrophic cardiomyopathy.
|
24793961 |
2014 |
|
rs397516074
|
|
Familial Hypertrophic Cardiomyopathy Type 4
|
T |
0.800 |
CausalMutation
|
CLINVAR |
E258K HCM-causing mutation in cardiac MyBP-C reduces contractile force and accelerates twitch kinetics by disrupting the cMyBP-C and myosin S2 interaction.
|
23980194 |
2013 |
|
rs397516074
|
|
Familial Hypertrophic Cardiomyopathy Type 4
|
T |
0.800 |
CausalMutation
|
CLINVAR |
Somatic MYH7, MYBPC3, TPM1, TNNT2 and TNNI3 mutations in sporadic hypertrophic cardiomyopathy.
|
23782526 |
2013 |
|
rs397516074
|
|
Familial Hypertrophic Cardiomyopathy Type 4
|
T |
0.800 |
CausalMutation
|
CLINVAR |
A systematic approach to assessing the clinical significance of genetic variants.
|
24033266 |
2013 |
|
rs397516074
|
|
Familial Hypertrophic Cardiomyopathy Type 4
|
T |
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 |
|
rs397516074
|
|
Familial Hypertrophic Cardiomyopathy Type 4
|
T |
0.800 |
CausalMutation
|
CLINVAR |
Uptake of cardiac screening and genetic testing among hypertrophic and dilated cardiomyopathy families.
|
23054336 |
2013 |
|
rs397516074
|
|
Familial Hypertrophic Cardiomyopathy Type 4
|
T |
0.800 |
CausalMutation
|
CLINVAR |
Cardiac myosin binding protein-C mutations in families with hypertrophic cardiomyopathy: disease expression in relation to age, gender, and long term outcome.
|
22267749 |
2012 |
|
rs397516074
|
|
Familial Hypertrophic Cardiomyopathy Type 4
|
T |
0.800 |
CausalMutation
|
CLINVAR |
A case of compound mutations in the MYBPC3 gene associated with biventricular hypertrophy and neonatal death.
|
22907696 |
2012 |
|
rs397516074
|
|
Familial Hypertrophic Cardiomyopathy Type 4
|
T |
0.800 |
CausalMutation
|
CLINVAR |
Microvascular function is selectively impaired in patients with hypertrophic cardiomyopathy and sarcomere myofilament gene mutations.
|
21835320 |
2011 |
|
rs397516074
|
|
Familial Hypertrophic Cardiomyopathy Type 4
|
T |
0.800 |
CausalMutation
|
CLINVAR |
Clinical features and outcome of hypertrophic cardiomyopathy associated with triple sarcomere protein gene mutations.
|
20359594 |
2010 |
|
rs397516074
|
|
Familial Hypertrophic Cardiomyopathy Type 4
|
T |
0.800 |
CausalMutation
|
CLINVAR |
Ubiquitin proteasome dysfunction in human hypertrophic and dilated cardiomyopathies.
|
20159828 |
2010 |
|
rs397516074
|
|
Familial Hypertrophic Cardiomyopathy Type 4
|
T |
0.800 |
CausalMutation
|
CLINVAR |
Efficacy of catheter ablation for atrial fibrillation in hypertrophic cardiomyopathy: impact of age, atrial remodelling, and disease progression.
|
20173211 |
2010 |
|
rs397516074
|
|
Familial Hypertrophic Cardiomyopathy Type 4
|
T |
0.800 |
CausalMutation
|
CLINVAR |
Expression patterns of cardiac myofilament proteins: genomic and protein analysis of surgical myectomy tissue from patients with obstructive hypertrophic cardiomyopathy.
|
19808356 |
2009 |
|
rs397516074
|
|
Familial Hypertrophic Cardiomyopathy Type 4
|
T |
0.800 |
CausalMutation
|
CLINVAR |
Evidence from human myectomy samples that MYBPC3 mutations cause hypertrophic cardiomyopathy through haploinsufficiency.
|
19574547 |
2009 |
|
rs397516074
|
|
Familial Hypertrophic Cardiomyopathy Type 4
|
T |
0.800 |
CausalMutation
|
CLINVAR |
Echocardiographic strain imaging to assess early and late consequences of sarcomere mutations in hypertrophic cardiomyopathy.
|
20031602 |
2009 |
|
rs397516074
|
|
Familial Hypertrophic Cardiomyopathy Type 4
|
T |
0.800 |
CausalMutation
|
CLINVAR |
Myofilament protein gene mutation screening and outcome of patients with hypertrophic cardiomyopathy.
|
18533079 |
2008 |
|
rs397516074
|
|
Familial Hypertrophic Cardiomyopathy Type 4
|
T |
0.800 |
CausalMutation
|
CLINVAR |
Crystal structure of the C1 domain of cardiac myosin binding protein-C: implications for hypertrophic cardiomyopathy.
|
18374358 |
2008 |
|
rs397516074
|
|
Familial Hypertrophic Cardiomyopathy Type 4
|
T |
0.800 |
CausalMutation
|
CLINVAR |
ACMG recommendations for standards for interpretation and reporting of sequence variations: Revisions 2007.
|
18414213 |
2008 |
|
rs397516074
|
|
Familial Hypertrophic Cardiomyopathy Type 4
|
T |
0.800 |
CausalMutation
|
CLINVAR |
Adverse events in families with hypertrophic or dilated cardiomyopathy and mutations in the MYBPC3 gene.
|
18957093 |
2008 |
|
rs397516074
|
|
Familial Hypertrophic Cardiomyopathy Type 4
|
T |
0.800 |
CausalMutation
|
CLINVAR |
Shared genetic causes of cardiac hypertrophy in children and adults.
|
18403758 |
2008 |
|
rs397516074
|
|
Familial Hypertrophic Cardiomyopathy Type 4
|
T |
0.800 |
CausalMutation
|
CLINVAR |
Contribution of inherited heart disease to sudden cardiac death in childhood.
|
17908752 |
2007 |