|
Hypertrophic Cardiomyopathy
|
|
0.720 |
CausalMutation
|
CLINVAR |
Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.
|
27532257 |
2017 |
|
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 |
|
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 |
|
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 |
|
Hypertrophic Cardiomyopathy
|
|
0.720 |
CausalMutation
|
CLINVAR |
[Mutations in sarcomeric genes MYH7, MYBPC3, TNNT2, TNNI3, and TPM1 in patients with hypertrophic cardiomyopathy].
|
19150014 |
2009 |
|
Hypertrophic Cardiomyopathy
|
|
0.720 |
CausalMutation
|
CLINVAR |
A p.R870H mutation in the beta-cardiac myosin heavy chain 7 gene causes familial hypertrophic cardiomyopathy in several members of an Indian family.
|
17703256 |
2007 |
|
Hypertrophic Cardiomyopathy
|
|
0.720 |
CausalMutation
|
CLINVAR |
Genotype-phenotype correlation of R870H mutation in hypertrophic cardiomyopathy.
|
16650083 |
2006 |
|
Hypertrophic Cardiomyopathy
|
|
0.720 |
CausalMutation
|
CLINVAR |
[Beta-myosin heavy-chain gene mutations in patients with hypertrophic cardiomyopathy].
|
17125710 |
2006 |
|
Hypertrophic Cardiomyopathy
|
|
0.720 |
CausalMutation
|
CLINVAR |
Mutation spectrum in a large cohort of unrelated consecutive patients with hypertrophic cardiomyopathy.
|
12974739 |
2003 |
|
Hypertrophic Cardiomyopathy
|
|
0.720 |
CausalMutation
|
CLINVAR |
Mutations in beta-myosin S2 that cause familial hypertrophic cardiomyopathy (FHC) abolish the interaction with the regulatory domain of myosin-binding protein-C.
|
10024460 |
1999 |
|
Hypertrophic Cardiomyopathy
|
|
0.720 |
CausalMutation
|
CLINVAR |
The in vitro motility activity of beta-cardiac myosin depends on the nature of the beta-myosin heavy chain gene mutation in hypertrophic cardiomyopathy.
|
9172070 |
1997 |
|
Hypertrophic Cardiomyopathy
|
|
0.720 |
CausalMutation
|
CLINVAR |
A myosin missense mutation, not a null allele, causes familial hypertrophic cardiomyopathy.
|
7796500 |
1995 |
|
Hypertrophic Cardiomyopathy
|
|
0.720 |
CausalMutation
|
CLINVAR |
Structural interpretation of the mutations in the beta-cardiac myosin that have been implicated in familial hypertrophic cardiomyopathy.
|
7731997 |
1995 |