|
rs121913637
|
|
A |
0.720 |
CausalMutation |
CLINVAR |
Genetic background of Japanese patients with pediatric hypertrophic and restrictive cardiomyopathy.
|
29907873 |
2018 |
|
rs121913637
|
|
A |
0.720 |
CausalMutation |
CLINVAR |
Adaptation and validation of the ACMG/AMP variant classification framework for MYH7-associated inherited cardiomyopathies: recommendations by ClinGen's Inherited Cardiomyopathy Expert Panel.
|
29300372 |
2018 |
|
rs121913637
|
|
A |
0.720 |
CausalMutation |
CLINVAR |
Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.
|
27532257 |
2017 |
|
rs121913637
|
|
A |
0.720 |
CausalMutation |
CLINVAR |
Genetic anticipation in a special form of hypertrophic cardiomyopathy with sudden cardiac death in a family with 74 members across 5 generations.
|
28296734 |
2017 |
|
rs121913637
|
|
A |
0.720 |
CausalMutation |
CLINVAR |
Clinical genetics and outcome of left ventricular non-compaction cardiomyopathy.
|
29029073 |
2017 |
|
rs121913637
|
|
A |
0.720 |
CausalMutation |
CLINVAR |
A new common mutation in the cardiac beta-myosin heavy chain gene in Finnish patients with hypertrophic cardiomyopathy.
|
24888384 |
2014 |
|
rs121913637
|
|
A |
0.720 |
CausalMutation |
CLINVAR |
β-Myosin heavy chain variant Val606Met causes very mild hypertrophic cardiomyopathy in mice, but exacerbates HCM phenotypes in mice carrying other HCM mutations.
|
24829265 |
2014 |
|
rs121913637
|
|
A |
0.720 |
CausalMutation |
CLINVAR |
Detection of a large duplication mutation in the myosin-binding protein C3 gene in a case of hypertrophic cardiomyopathy.
|
23816408 |
2013 |
|
rs121913637
|
|
A |
0.720 |
CausalMutation |
CLINVAR |
High resolution melting: improvements in the genetic diagnosis of hypertrophic cardiomyopathy in a Portuguese cohort.
|
22429680 |
2012 |
|
rs121913637
|
|
A |
0.720 |
CausalMutation |
CLINVAR |
Unequal allelic expression of wild-type and mutated β-myosin in familial hypertrophic cardiomyopathy.
|
21769673 |
2011 |
|
rs121913637
|
|
A |
0.720 |
CausalMutation |
CLINVAR |
Development and validation of a computational method for assessment of missense variants in hypertrophic cardiomyopathy.
|
21310275 |
2011 |
|
rs121913637
|
|
A |
0.720 |
CausalMutation |
CLINVAR |
Short communication: the cardiac myosin binding protein C Arg502Trp mutation: a common cause of hypertrophic cardiomyopathy.
|
20378854 |
2010 |
|
rs121913637
|
|
A |
0.720 |
CausalMutation |
CLINVAR |
Cardiomyopathy mutations reveal variable region of myosin converter as major element of cross-bridge compliance.
|
19651039 |
2009 |
|
rs121913637
|
|
A |
0.720 |
CausalMutation |
CLINVAR |
A novel mutation of the beta myosin heavy chain gene responsible for familial hypertrophic cardiomyopathy.
|
19645038 |
2009 |
|
rs121913637
|
|
|
0.720 |
GeneticVariation |
BEFREE |
The novel double mutation of Ala26Val plus Arg719Trp in MYH7 identified in a Chinese family highlights the remarkable genetic heterogeneity of HCM, which provides important information for genetic counseling, accurate diagnosis, prognostic evaluation, and appropriate clinical management.
|
19645038 |
2009 |
|
rs121913637
|
|
|
0.720 |
GeneticVariation |
BEFREE |
All children (aged 1.5-16.7 years) from 14 HCM families with identified disease-causing mutations (the Arg719Trp mutation in the beta-myosin heavy chain gene [MYH7], the Asp175Asn mutation in the alpha-tropomyosin gene [TPM1], the Gln1061X mutation in the myosin-binding protein C gene [MYBPC3], and the IVS5-2A-->C mutation in the MYBPC3 gene) and 53 matched control children were examined with electrocardiography and 2- and 3-dimensional echocardiography (2DE and 3DE).
|
16504640 |
2006 |
|
rs121913637
|
|
A |
0.720 |
CausalMutation |
CLINVAR |
Diastolic dysfunction without left ventricular hypertrophy is an early finding in children with hypertrophic cardiomyopathy-causing mutations in the beta-myosin heavy chain, alpha-tropomyosin, and myosin-binding protein C genes.
|
16504640 |
2006 |
|
rs121913637
|
|
A |
0.720 |
CausalMutation |
CLINVAR |
Denaturing high performance liquid chromatography: high throughput mutation screening in familial hypertrophic cardiomyopathy and SNP genotyping in motor neurone disease.
|
15858117 |
2005 |
|
rs121913637
|
|
A |
0.720 |
CausalMutation |
CLINVAR |
Genetics of hypertrophic cardiomyopathy in eastern Finland: few founder mutations with benign or intermediary phenotypes.
|
15000344 |
2004 |
|
rs121913637
|
|
A |
0.720 |
CausalMutation |
CLINVAR |
Hypertrophic cardiomyopathy: distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategy.
|
12707239 |
2003 |
|
rs121913637
|
|
A |
0.720 |
CausalMutation |
CLINVAR |
Mutation spectrum in a large cohort of unrelated consecutive patients with hypertrophic cardiomyopathy.
|
12974739 |
2003 |
|
rs121913637
|
|
A |
0.720 |
CausalMutation |
CLINVAR |
Mutation of the myosin converter domain alters cross-bridge elasticity.
|
11904418 |
2002 |
|
rs121913637
|
|
A |
0.720 |
CausalMutation |
CLINVAR |
Prevalence and age-dependence of malignant mutations in the beta-myosin heavy chain and troponin T genes in hypertrophic cardiomyopathy: a comprehensive outpatient perspective.
|
12084606 |
2002 |
|
rs121913637
|
|
A |
0.720 |
CausalMutation |
CLINVAR |
Apical hypertrophic cardiomyopathy due to a de novo mutation Arg719Trp of the beta-myosin heavy chain gene and cardiac arrest in childhood. A case report and family study.
|
10957787 |
2000 |
|
rs121913637
|
|
A |
0.720 |
CausalMutation |
CLINVAR |
Functional consequences of mutations in the smooth muscle myosin heavy chain at sites implicated in familial hypertrophic cardiomyopathy.
|
10882745 |
2000 |