|
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 |
|
Hypertrophic Cardiomyopathy
|
|
0.720 |
CausalMutation
|
CLINVAR |
Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.
|
27532257 |
2017 |
|
Cardiomyopathy, Hypertrophic, Familial
|
|
0.710 |
CausalMutation
|
CLINVAR |
Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.
|
27532257 |
2017 |
|
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
|
|
0.800 |
CausalMutation
|
CLINVAR |
Results of clinical genetic testing of 2,912 probands with hypertrophic cardiomyopathy: expanded panels offer limited additional sensitivity.
|
25611685 |
2015 |
|
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 |
|
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 |
|
Cardiomyopathy, Hypertrophic, Familial
|
|
0.710 |
CausalMutation
|
CLINVAR |
Genetics of hypertrophic cardiomyopathy in Norway.
|
24111713 |
2014 |
|
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
|
|
0.800 |
CausalMutation
|
CLINVAR |
Detection of a large duplication mutation in the myosin-binding protein C3 gene in a case of hypertrophic cardiomyopathy.
|
23816408 |
2013 |
|
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
|
|
0.800 |
GeneticVariation
|
UNIPROT |
ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.
|
23788249 |
2013 |
|
Hypertrophic Cardiomyopathy
|
|
0.720 |
CausalMutation
|
CLINVAR |
Multiple gene mutations, not the type of mutation, are the modifier of left ventricle hypertrophy in patients with hypertrophic cardiomyopathy.
|
23283745 |
2013 |
|
Hypertrophic Cardiomyopathy
|
|
0.720 |
GeneticVariation
|
BEFREE |
In a small cohort of HCM patients (n=8), we searched for mutations in the two most common genes responsible for HCM and found four missense mutations in the MYH7 gene encoding cardiac β-myosin heavy chain (R204H, M493V, R719W, and R870H) and three mutations in the myosin-binding protein C3 gene (MYBPC3) including one missense (A848V) and two frameshift mutations (c.3713delTG and c.702ins26bp).
|
23816408 |
2013 |
|
Hypertrophic Cardiomyopathy
|
|
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 |
|
Cardiomyopathy, Hypertrophic, Familial
|
|
0.710 |
CausalMutation
|
CLINVAR |
Multiple gene mutations, not the type of mutation, are the modifier of left ventricle hypertrophy in patients with hypertrophic cardiomyopathy.
|
23283745 |
2013 |
|
Cardiomyopathy, Hypertrophic, Familial
|
|
0.710 |
CausalMutation
|
CLINVAR |
Detection of a large duplication mutation in the myosin-binding protein C3 gene in a case of hypertrophic cardiomyopathy.
|
23816408 |
2013 |
|
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
|
|
0.800 |
CausalMutation
|
CLINVAR |
Resequencing the whole MYH7 gene (including the intronic, promoter, and 3' UTR sequences) in hypertrophic cardiomyopathy.
|
22765922 |
2012 |
|
Hypertrophic Cardiomyopathy
|
|
0.720 |
CausalMutation
|
CLINVAR |
High resolution melting: improvements in the genetic diagnosis of hypertrophic cardiomyopathy in a Portuguese cohort.
|
22429680 |
2012 |
|
Hypertrophic Cardiomyopathy
|
|
0.720 |
CausalMutation
|
CLINVAR |
Cardiac structural and sarcomere genes associated with cardiomyopathy exhibit marked intolerance of genetic variation.
|
23074333 |
2012 |
|
Cardiomyopathy, Hypertrophic, Familial
|
|
0.710 |
CausalMutation
|
CLINVAR |
High resolution melting: improvements in the genetic diagnosis of hypertrophic cardiomyopathy in a Portuguese cohort.
|
22429680 |
2012 |
|
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Clinical utility gene card for: hypertrophic cardiomyopathy (type 1-14).
|
21267010 |
2011 |
|
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
|
|
0.800 |
CausalMutation
|
CLINVAR |
Hypertrophic cardiomyopathy: from mutation to functional analysis of defective protein.
|
21674835 |
2011 |
|
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 |
|
Hypertrophic Cardiomyopathy
|
|
0.720 |
CausalMutation
|
CLINVAR |
Development and validation of a computational method for assessment of missense variants in hypertrophic cardiomyopathy.
|
21310275 |
2011 |
|
Hypertrophic Cardiomyopathy
|
|
0.720 |
CausalMutation
|
CLINVAR |
The Arg870His and Asp778Val amino acid alterations were found in 2 unrelated patients with a severe form of hypertrophic cardiomyopathy.
|
21674835 |
2011 |
|
Hypertrophic Cardiomyopathy
|
|
0.720 |
GeneticVariation
|
BEFREE |
The Arg870His and Asp778Val amino acid alterations were found in 2 unrelated patients with a severe form of hypertrophic cardiomyopathy.
|
21674835 |
2011 |
|
Cardiomyopathy, Hypertrophic, Familial
|
|
0.710 |
CausalMutation
|
CLINVAR |
Hypertrophic cardiomyopathy: from mutation to functional analysis of defective protein.
|
21674835 |
2011 |