rs121909374
|
|
G |
0.800 |
CausalMutation |
CLINVAR |
Double or compound sarcomere mutations in hypertrophic cardiomyopathy: a potential link to sudden death in the absence of conventional risk factors.
|
21839045 |
2012 |
rs121909374
|
|
G |
0.800 |
CausalMutation |
CLINVAR |
Evidence for efficacy of the Italian national pre-participation screening programme for identification of hypertrophic cardiomyopathy in competitive athletes.
|
16831826 |
2006 |
rs121909374
|
|
G |
0.800 |
CausalMutation |
CLINVAR |
Clinical phenotype and outcome of hypertrophic cardiomyopathy associated with thin-filament gene mutations.
|
25524337 |
2014 |
rs121909374
|
|
G |
0.800 |
CausalMutation |
CLINVAR |
[Mutations in sarcomeric genes MYH7, MYBPC3, TNNT2, TNNI3, and TPM1 in patients with hypertrophic cardiomyopathy].
|
19150014 |
2009 |
rs121909374
|
|
G |
0.800 |
CausalMutation |
CLINVAR |
Screening mutations in myosin binding protein C3 gene in a cohort of patients with Hypertrophic Cardiomyopathy.
|
20433692 |
2010 |
rs121909374
|
|
G |
0.800 |
CausalMutation |
CLINVAR |
Screening of MYH7, MYBPC3, and TNNT2 genes in Brazilian patients with hypertrophic cardiomyopathy.
|
24093860 |
2013 |
rs121909374
|
|
G |
0.800 |
CausalMutation |
CLINVAR |
Actionable exomic incidental findings in 6503 participants: challenges of variant classification.
|
25637381 |
2015 |
rs121909374
|
|
G |
0.800 |
CausalMutation |
CLINVAR |
Resequencing the whole MYH7 gene (including the intronic, promoter, and 3' UTR sequences) in hypertrophic cardiomyopathy.
|
22765922 |
2012 |
rs121909374
|
|
G |
0.800 |
CausalMutation |
CLINVAR |
A molecular screening strategy based on beta-myosin heavy chain, cardiac myosin binding protein C and troponin T genes in Italian patients with hypertrophic cardiomyopathy.
|
16858239 |
2006 |
rs121909374
|
|
G |
0.800 |
CausalMutation |
CLINVAR |
Myosin binding protein C mutations and compound heterozygosity in hypertrophic cardiomyopathy.
|
15519027 |
2004 |
rs121909374
|
|
G |
0.800 |
CausalMutation |
CLINVAR |
New population-based exome data are questioning the pathogenicity of previously cardiomyopathy-associated genetic variants.
|
23299917 |
2013 |
rs121909374
|
|
G |
0.800 |
CausalMutation |
CLINVAR |
Results of clinical genetic testing of 2,912 probands with hypertrophic cardiomyopathy: expanded panels offer limited additional sensitivity.
|
25611685 |
2015 |
rs121909374
|
|
G |
0.800 |
CausalMutation |
CLINVAR |
How do MYBPC3 mutations cause hypertrophic cardiomyopathy?
|
22057632 |
2012 |
rs121909374
|
|
G |
0.800 |
CausalMutation |
CLINVAR |
Clinical features and prognostic implications of familial hypertrophic cardiomyopathy related to the cardiac myosin-binding protein C gene.
|
9631872 |
1998 |
rs121909374
|
|
G |
0.800 |
CausalMutation |
CLINVAR |
COOH-terminal truncated cardiac myosin-binding protein C mutants resulting from familial hypertrophic cardiomyopathy mutations exhibit altered expression and/or incorporation in fetal rat cardiomyocytes.
|
10610770 |
1999 |
rs121909374
|
|
G |
0.800 |
CausalMutation |
CLINVAR |
Short communication: the cardiac myosin binding protein C Arg502Trp mutation: a common cause of hypertrophic cardiomyopathy.
|
20378854 |
2010 |
rs121909374
|
|
G |
0.800 |
CausalMutation |
CLINVAR |
Cardiac myosin binding protein-C mutations in families with hypertrophic cardiomyopathy: disease expression in relation to age, gender, and long term outcome.
|
22267749 |
2012 |
rs121909374
|
|
G |
0.800 |
CausalMutation |
CLINVAR |
Unexpectedly low mutation rates in beta-myosin heavy chain and cardiac myosin binding protein genes in Italian patients with hypertrophic cardiomyopathy.
|
21302287 |
2011 |
rs121909374
|
|
G |
0.800 |
CausalMutation |
CLINVAR |
Organization and sequence of human cardiac myosin binding protein C gene (MYBPC3) and identification of mutations predicted to produce truncated proteins in familial hypertrophic cardiomyopathy.
|
9048664 |
1997 |
rs121909374
|
|
G |
0.800 |
CausalMutation |
CLINVAR |
Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.
|
27532257 |
2017 |
rs121909374
|
|
G |
0.800 |
CausalMutation |
CLINVAR |
A founder MYBPC3 mutation results in HCM with a high risk of sudden death after the fourth decade of life.
|
25740977 |
2015 |
rs121909374
|
|
G |
0.800 |
CausalMutation |
CLINVAR |
Severe cardiac conduction disturbances and pacemaker implantation in patients with hypertrophic cardiomyopathy.
|
20738943 |
2010 |
rs121909374
|
|
G |
0.800 |
CausalMutation |
CLINVAR |
Compound and double mutations in patients with hypertrophic cardiomyopathy: implications for genetic testing and counselling.
|
16199542 |
2005 |
rs121909374
|
|
G |
0.800 |
CausalMutation |
CLINVAR |
Rapid detection of genetic variants in hypertrophic cardiomyopathy by custom DNA resequencing array in clinical practice.
|
21239446 |
2011 |
rs121909374
|
|
G |
0.800 |
CausalMutation |
CLINVAR |
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.
|
25741868 |
2015 |