|
rs121913624
|
|
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
|
T |
0.800 |
CausalMutation
|
CLINVAR |
Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.
|
27532257 |
2017 |
|
rs121913624
|
|
Cardiomyopathy, Familial Hypertrophic, 1 (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 |
|
rs121913624
|
|
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
|
T |
0.800 |
CausalMutation
|
CLINVAR |
Multidimensional structure-function relationships in human β-cardiac myosin from population-scale genetic variation.
|
27247418 |
2016 |
|
rs121913624
|
|
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
|
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 |
|
rs121913624
|
|
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
|
|
0.800 |
GeneticVariation
|
UNIPROT |
ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing.
|
25356965 |
2015 |
|
rs121913624
|
|
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
|
|
0.800 |
GeneticVariation
|
UNIPROT |
2014 ESC Guidelines on diagnosis and management of hypertrophic cardiomyopathy: the Task Force for the Diagnosis and Management of Hypertrophic Cardiomyopathy of the European Society of Cardiology (ESC).
|
25173338 |
2014 |
|
rs121913624
|
|
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
|
T |
0.800 |
CausalMutation
|
CLINVAR |
Faster cross-bridge detachment and increased tension cost in human hypertrophic cardiomyopathy with the R403Q MYH7 mutation.
|
24928957 |
2014 |
|
rs121913624
|
|
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
|
T |
0.800 |
CausalMutation
|
CLINVAR |
Characterization of a phenotype-based genetic test prediction score for unrelated patients with hypertrophic cardiomyopathy.
|
24793961 |
2014 |
|
rs121913624
|
|
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
|
T |
0.800 |
CausalMutation
|
CLINVAR |
Hypertrophic cardiomyopathy associated with left ventricular noncompaction cardiomyopathy and coronary fistulae: a case report. One genotype, three phenotypes?
|
24268868 |
2013 |
|
rs121913624
|
|
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
|
T |
0.800 |
CausalMutation
|
CLINVAR |
Transgenic mouse α- and β-cardiac myosins containing the R403Q mutation show isoform-dependent transient kinetic differences.
|
23580644 |
2013 |
|
rs121913624
|
|
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
|
T |
0.800 |
CausalMutation
|
CLINVAR |
Uptake of cardiac screening and genetic testing among hypertrophic and dilated cardiomyopathy families.
|
23054336 |
2013 |
|
rs121913624
|
|
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
|
T |
0.800 |
CausalMutation
|
CLINVAR |
A systematic approach to assessing the clinical significance of genetic variants.
|
24033266 |
2013 |
|
rs121913624
|
|
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
|
T |
0.800 |
CausalMutation
|
CLINVAR |
Creatine kinase adenosine triphosphate and phosphocreatine energy supply in a single kindred of patients with hypertrophic cardiomyopathy.
|
23751935 |
2013 |
|
rs121913624
|
|
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
|
|
0.800 |
GeneticVariation
|
UNIPROT |
ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.
|
23788249 |
2013 |
|
rs121913624
|
|
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
|
T |
0.800 |
CausalMutation
|
CLINVAR |
Cardiac and skeletal muscle expression of mutant β-myosin heavy chains, degree of functional impairment and phenotypic heterogeneity in hypertrophic cardiomyopathy.
|
22213221 |
2012 |
|
rs121913624
|
|
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
|
T |
0.800 |
CausalMutation
|
CLINVAR |
Two brothers with unexplained cardiomegaly Initial clues to the molecular basis of a hereditary cardiac disease.
|
21239280 |
2012 |
|
rs121913624
|
|
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
|
T |
0.800 |
CausalMutation
|
CLINVAR |
Cell-intrinsic functional effects of the α-cardiac myosin Arg-403-Gln mutation in familial hypertrophic cardiomyopathy.
|
22735528 |
2012 |
|
rs121913624
|
|
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
|
|
0.800 |
GeneticVariation
|
UNIPROT |
HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this document was developed as a partnership between the Heart Rhythm Society (HRS) and the European Heart Rhythm Association (EHRA).
|
21810866 |
2011 |
|
rs121913624
|
|
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Clinical utility gene card for: hypertrophic cardiomyopathy (type 1-14).
|
21267010 |
2011 |
|
rs121913624
|
|
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
|
T |
0.800 |
CausalMutation
|
CLINVAR |
Development of a high resolution melting method for the detection of genetic variations in hypertrophic cardiomyopathy.
|
20800588 |
2010 |
|
rs121913624
|
|
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
|
T |
0.800 |
CausalMutation
|
CLINVAR |
Prevalence of sarcomere protein gene mutations in preadolescent children with hypertrophic cardiomyopathy.
|
20031618 |
2009 |
|
rs121913624
|
|
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
|
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 |
|
rs121913624
|
|
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
|
T |
0.800 |
CausalMutation
|
CLINVAR |
The familial hypertrophic cardiomyopathy-associated myosin mutation R403Q accelerates tension generation and relaxation of human cardiac myofibrils.
|
18565996 |
2008 |
|
rs121913624
|
|
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
|
T |
0.800 |
CausalMutation
|
CLINVAR |
Shared genetic causes of cardiac hypertrophy in children and adults.
|
18403758 |
2008 |
|
rs121913624
|
|
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
|
T |
0.800 |
CausalMutation
|
CLINVAR |
Hypertrophic and dilated cardiomyopathy mutations differentially affect the molecular force generation of mouse alpha-cardiac myosin in the laser trap assay.
|
17351073 |
2007 |