|
rs121909374
|
|
Familial Hypertrophic Cardiomyopathy Type 4
|
G |
0.800 |
CausalMutation
|
CLINVAR |
Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.
|
27532257 |
2017 |
|
rs121909374
|
|
Familial Hypertrophic Cardiomyopathy Type 4
|
G |
0.800 |
CausalMutation
|
CLINVAR |
A Next-Generation Sequencing Approach to Identify Gene Mutations in Early- and Late-Onset Hypertrophic Cardiomyopathy Patients of an Italian Cohort.
|
27483260 |
2016 |
|
rs121909374
|
|
Familial Hypertrophic Cardiomyopathy Type 4
|
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
|
|
Familial Hypertrophic Cardiomyopathy Type 4
|
G |
0.800 |
CausalMutation
|
CLINVAR |
Actionable exomic incidental findings in 6503 participants: challenges of variant classification.
|
25637381 |
2015 |
|
rs121909374
|
|
Familial Hypertrophic Cardiomyopathy Type 4
|
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
|
|
Familial Hypertrophic Cardiomyopathy Type 4
|
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 |
|
rs121909374
|
|
Familial Hypertrophic Cardiomyopathy Type 4
|
G |
0.800 |
CausalMutation
|
CLINVAR |
Characterization of a phenotype-based genetic test prediction score for unrelated patients with hypertrophic cardiomyopathy.
|
24793961 |
2014 |
|
rs121909374
|
|
Familial Hypertrophic Cardiomyopathy Type 4
|
G |
0.800 |
CausalMutation
|
CLINVAR |
Clinical phenotype and outcome of hypertrophic cardiomyopathy associated with thin-filament gene mutations.
|
25524337 |
2014 |
|
rs121909374
|
|
Familial Hypertrophic Cardiomyopathy Type 4
|
G |
0.800 |
CausalMutation
|
CLINVAR |
Mutation analysis of the main hypertrophic cardiomyopathy genes using multiplex amplification and semiconductor next-generation sequencing.
|
25342278 |
2014 |
|
rs121909374
|
|
Familial Hypertrophic Cardiomyopathy Type 4
|
G |
0.800 |
CausalMutation
|
CLINVAR |
Uptake of cardiac screening and genetic testing among hypertrophic and dilated cardiomyopathy families.
|
23054336 |
2013 |
|
rs121909374
|
|
Familial Hypertrophic Cardiomyopathy Type 4
|
G |
0.800 |
CausalMutation
|
CLINVAR |
A systematic approach to assessing the clinical significance of genetic variants.
|
24033266 |
2013 |
|
rs121909374
|
|
Familial Hypertrophic Cardiomyopathy Type 4
|
G |
0.800 |
CausalMutation
|
CLINVAR |
Screening of MYH7, MYBPC3, and TNNT2 genes in Brazilian patients with hypertrophic cardiomyopathy.
|
24093860 |
2013 |
|
rs121909374
|
|
Familial Hypertrophic Cardiomyopathy Type 4
|
G |
0.800 |
CausalMutation
|
CLINVAR |
New population-based exome data are questioning the pathogenicity of previously cardiomyopathy-associated genetic variants.
|
23299917 |
2013 |
|
rs121909374
|
|
Familial Hypertrophic Cardiomyopathy Type 4
|
G |
0.800 |
CausalMutation
|
CLINVAR |
Resequencing the whole MYH7 gene (including the intronic, promoter, and 3' UTR sequences) in hypertrophic cardiomyopathy.
|
22765922 |
2012 |
|
rs121909374
|
|
Familial Hypertrophic Cardiomyopathy Type 4
|
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
|
|
Familial Hypertrophic Cardiomyopathy Type 4
|
G |
0.800 |
CausalMutation
|
CLINVAR |
How do MYBPC3 mutations cause hypertrophic cardiomyopathy?
|
22057632 |
2012 |
|
rs121909374
|
|
Familial Hypertrophic Cardiomyopathy Type 4
|
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
|
|
Familial Hypertrophic Cardiomyopathy Type 4
|
G |
0.800 |
CausalMutation
|
CLINVAR |
Rapid detection of genetic variants in hypertrophic cardiomyopathy by custom DNA resequencing array in clinical practice.
|
21239446 |
2011 |
|
rs121909374
|
|
Familial Hypertrophic Cardiomyopathy Type 4
|
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
|
|
Familial Hypertrophic Cardiomyopathy Type 4
|
G |
0.800 |
CausalMutation
|
CLINVAR |
Microvascular function is selectively impaired in patients with hypertrophic cardiomyopathy and sarcomere myofilament gene mutations.
|
21835320 |
2011 |
|
rs121909374
|
|
Familial Hypertrophic Cardiomyopathy Type 4
|
G |
0.800 |
CausalMutation
|
CLINVAR |
Screening mutations in myosin binding protein C3 gene in a cohort of patients with Hypertrophic Cardiomyopathy.
|
20433692 |
2010 |
|
rs121909374
|
|
Familial Hypertrophic Cardiomyopathy Type 4
|
G |
0.800 |
CausalMutation
|
CLINVAR |
Short communication: the cardiac myosin binding protein C Arg502Trp mutation: a common cause of hypertrophic cardiomyopathy.
|
20378854 |
2010 |
|
rs121909374
|
|
Familial Hypertrophic Cardiomyopathy Type 4
|
G |
0.800 |
CausalMutation
|
CLINVAR |
Severe cardiac conduction disturbances and pacemaker implantation in patients with hypertrophic cardiomyopathy.
|
20738943 |
2010 |
|
rs121909374
|
|
Familial Hypertrophic Cardiomyopathy Type 4
|
G |
0.800 |
CausalMutation
|
CLINVAR |
[Mutations in sarcomeric genes MYH7, MYBPC3, TNNT2, TNNI3, and TPM1 in patients with hypertrophic cardiomyopathy].
|
19150014 |
2009 |
|
rs121909374
|
|
Familial Hypertrophic Cardiomyopathy Type 4
|
G |
0.800 |
CausalMutation
|
CLINVAR |
Myofilament protein gene mutation screening and outcome of patients with hypertrophic cardiomyopathy.
|
18533079 |
2008 |