rs121913631
|
|
Cardiomyopathy, Hypertrophic, Familial
|
C |
0.700 |
CausalMutation
|
CLINVAR |
Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.
|
27532257 |
2017 |
rs121913631
|
|
Cardiomyopathy, Hypertrophic, Familial
|
C |
0.700 |
CausalMutation
|
CLINVAR |
Molecular genetic and functional characterization implicate muscle-restricted coiled-coil gene (MURC) as a causal gene for familial dilated cardiomyopathy.
|
21642240 |
2011 |
rs121913631
|
|
Cardiomyopathy, Hypertrophic, Familial
|
C |
0.700 |
CausalMutation
|
CLINVAR |
Shared genetic causes of cardiac hypertrophy in children and adults.
|
18403758 |
2008 |
rs121913631
|
|
Cardiomyopathy, Hypertrophic, Familial
|
C |
0.700 |
CausalMutation
|
CLINVAR |
Molecular and phenotypic effects of heterozygous, homozygous, and compound heterozygote myosin heavy-chain mutations.
|
15528230 |
2005 |
rs121913631
|
|
Cardiomyopathy, Hypertrophic, Familial
|
C |
0.700 |
CausalMutation
|
CLINVAR |
Denaturing high performance liquid chromatography: high throughput mutation screening in familial hypertrophic cardiomyopathy and SNP genotyping in motor neurone disease.
|
15858117 |
2005 |
rs121913631
|
|
Cardiomyopathy, Hypertrophic, Familial
|
C |
0.700 |
CausalMutation
|
CLINVAR |
Comprehensive analysis of the beta-myosin heavy chain gene in 389 unrelated patients with hypertrophic cardiomyopathy.
|
15358028 |
2004 |
rs121913631
|
|
Cardiomyopathy, Hypertrophic, Familial
|
C |
0.700 |
CausalMutation
|
CLINVAR |
Mutations of the beta myosin heavy chain gene in hypertrophic cardiomyopathy: critical functional sites determine prognosis.
|
12975413 |
2003 |
rs121913631
|
|
Cardiomyopathy, Hypertrophic, Familial
|
C |
0.700 |
CausalMutation
|
CLINVAR |
"Prevalence and severity of ""benign"" mutations in the beta-myosin heavy chain, cardiac troponin T, and alpha-tropomyosin genes in hypertrophic cardiomyopathy."
|
12473556 |
2002 |
rs121913631
|
|
Cardiomyopathy, Hypertrophic, Familial
|
C |
0.700 |
CausalMutation
|
CLINVAR |
Temporal repolarization lability in hypertrophic cardiomyopathy caused by beta-myosin heavy-chain gene mutations.
|
10725281 |
2000 |
rs121913631
|
|
Cardiomyopathy, Hypertrophic, Familial
|
C |
0.700 |
CausalMutation
|
CLINVAR |
R403Q and L908V mutant beta-cardiac myosin from patients with familial hypertrophic cardiomyopathy exhibit enhanced mechanical performance at the single molecule level.
|
11227787 |
2000 |
rs121913631
|
|
Cardiomyopathy, Hypertrophic, Familial
|
C |
0.700 |
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 |
rs121913631
|
|
Cardiomyopathy, Hypertrophic, Familial
|
C |
0.700 |
CausalMutation
|
CLINVAR |
Structural interpretation of the mutations in the beta-cardiac myosin that have been implicated in familial hypertrophic cardiomyopathy.
|
7731997 |
1995 |
rs121913631
|
|
Cardiomyopathy, Hypertrophic, Familial
|
C |
0.700 |
CausalMutation
|
CLINVAR |
Genotype-phenotype correlations in hypertrophic cardiomyopathy. Insights provided by comparisons of kindreds with distinct and identical beta-myosin heavy chain gene mutations.
|
8281650 |
1994 |
rs121913631
|
|
Cardiomyopathy, Hypertrophic, Familial
|
C |
0.700 |
CausalMutation
|
CLINVAR |
Identification of a mutation in the beta cardiac myosin heavy chain gene in a family with hypertrophic cardiomyopathy.
|
8435239 |
1993 |
rs121913631
|
|
Cardiomyopathy, Hypertrophic, Familial
|
C |
0.700 |
CausalMutation
|
CLINVAR |
Missense mutations in the beta-myosin heavy-chain gene cause central core disease in hypertrophic cardiomyopathy.
|
8483915 |
1993 |
rs121913631
|
|
Cardiomyopathy, Hypertrophic, Familial
|
C |
0.700 |
CausalMutation
|
CLINVAR |
Skeletal muscle expression and abnormal function of beta-myosin in hypertrophic cardiomyopathy.
|
8514894 |
1993 |
rs121913631
|
|
Cardiomyopathy, Hypertrophic, Familial
|
C |
0.700 |
CausalMutation
|
CLINVAR |
Differences in clinical expression of hypertrophic cardiomyopathy associated with two distinct mutations in the beta-myosin heavy chain gene. A 908Leu----Val mutation and a 403Arg----Gln mutation.
|
1638703 |
1992 |