rs121913627
|
|
|
0.730 |
GeneticVariation |
BEFREE |
The results showed that: Val606Met is an intermediate malignancy mutation; Arg694Leu is a novel mutation with a benign phenotype; and the Arg723Gly mutation is linked to malignancy - it can lead not only to HCM but also to dilated cardiomyopathy at various ages.
|
20819418 |
2010 |
rs121913627
|
|
T |
0.730 |
CausalMutation |
CLINVAR |
Mutations in the beta-myosin heavy chain gene in southern Chinese families with hypertrophic cardiomyopathy.
|
20819418 |
2010 |
rs121913627
|
|
T |
0.730 |
CausalMutation |
CLINVAR |
The molecular phenotype of human cardiac myosin associated with hypertrophic obstructive cardiomyopathy.
|
18411228 |
2008 |
rs121913627
|
|
T |
0.730 |
CausalMutation |
CLINVAR |
Here, we describe a unique combination of hypertrophic cardiomyopathy and hypertrophic distal myopathy in a family with a MYH7 Val606Met mutation (exon 16).
|
17383184 |
2007 |
rs121913627
|
|
|
0.730 |
GeneticVariation |
BEFREE |
Here, we describe a unique combination of hypertrophic cardiomyopathy and hypertrophic distal myopathy in a family with a MYH7 Val606Met mutation (exon 16).
|
17383184 |
2007 |
rs121913627
|
|
T |
0.730 |
CausalMutation |
CLINVAR |
Compound and double mutations in patients with hypertrophic cardiomyopathy: implications for genetic testing and counselling.
|
16199542 |
2005 |
rs121913627
|
|
T |
0.730 |
CausalMutation |
CLINVAR |
Outcome of clinical versus genetic family screening in hypertrophic cardiomyopathy with focus on cardiac beta-myosin gene mutations.
|
12566107 |
2003 |
rs121913627
|
|
T |
0.730 |
CausalMutation |
CLINVAR |
Hypertrophic cardiomyopathy: distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategy.
|
12707239 |
2003 |
rs121913627
|
|
|
0.730 |
GeneticVariation |
BEFREE |
Genotype-phenotype correlative studies have implicated 8 particular mutations that cause hypertrophic cardiomyopathy (HCM) as "benign defects," associated with near-normal survival: N232S, G256E, F513C, V606M, R719Q, and L908V of beta-myosin heavy chain (MYH7); S179F of troponin T (TNNT2); and D175N of alpha-tropomyosin (TPM1).
|
12473556 |
2002 |
rs121913627
|
|
T |
0.730 |
CausalMutation |
CLINVAR |
Beta-myosin heavy chain gene mutations and hypertrophic cardiomyopathy in Austrian children.
|
11133230 |
2001 |
rs121913627
|
|
T |
0.730 |
CausalMutation |
CLINVAR |
Mutations in cis can confound genotype-phenotype correlations in hypertrophic cardiomyopathy.
|
11424919 |
2001 |
rs121913627
|
|
T |
0.730 |
CausalMutation |
CLINVAR |
The Val606Met mutation in the cardiac beta-myosin heavy chain gene in patients with familial hypertrophic cardiomyopathy is associated with a high risk of sudden death at young age.
|
11377367 |
2001 |
rs121913627
|
|
T |
0.730 |
CausalMutation |
CLINVAR |
Hypertrophic cardiomyopathy: evaluation and treatment of patients at high risk for sudden death.
|
9058851 |
1997 |
rs121913627
|
|
T |
0.730 |
CausalMutation |
CLINVAR |
Sudden cardiac death in hypertrophic cardiomyopathy. Variability in phenotypic expression of beta-myosin heavy chain mutations.
|
7789380 |
1995 |
rs121913627
|
|
T |
0.730 |
CausalMutation |
CLINVAR |
A missense mutation in the beta-myosin heavy chain gene in a Japanese patient with hypertrophic cardiomyopathy.
|
8788376 |
1995 |
rs121913627
|
|
T |
0.730 |
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 |
rs121913627
|
|
T |
0.730 |
CausalMutation |
CLINVAR |
Left ventricular hypertrophy and morphology in familial hypertrophic cardiomyopathy associated with mutations of the beta-myosin heavy chain gene.
|
8335820 |
1993 |
rs121913627
|
|
T |
0.730 |
CausalMutation |
CLINVAR |
Characteristics and prognostic implications of myosin missense mutations in familial hypertrophic cardiomyopathy.
|
1552912 |
1992 |