|
rs727503167
|
|
Familial Hypertrophic Cardiomyopathy Type 4
|
T |
0.800 |
CausalMutation
|
CLINVAR |
Genetic complexity in hypertrophic cardiomyopathy revealed by high-throughput sequencing.
|
23396983 |
2013 |
|
rs727503167
|
|
Familial Hypertrophic Cardiomyopathy Type 4
|
T |
0.800 |
CausalMutation
|
CLINVAR |
Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.
|
27532257 |
2017 |
|
rs727503167
|
|
Familial Hypertrophic Cardiomyopathy Type 4
|
T |
0.800 |
CausalMutation
|
CLINVAR |
Hypertrophic cardiomyopathy: distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategy.
|
12707239 |
2003 |
|
rs727503167
|
|
Familial Hypertrophic Cardiomyopathy Type 4
|
T |
0.800 |
CausalMutation
|
CLINVAR |
Clinical phenotype and outcome of hypertrophic cardiomyopathy associated with thin-filament gene mutations.
|
25524337 |
2014 |
|
rs727503167
|
|
Familial Hypertrophic Cardiomyopathy Type 4
|
T |
0.800 |
CausalMutation
|
CLINVAR |
Prevalence of sarcomere protein gene mutations in preadolescent children with hypertrophic cardiomyopathy.
|
20031618 |
2009 |
|
rs573916965
|
|
Familial Hypertrophic Cardiomyopathy Type 4
|
T |
0.800 |
CausalMutation
|
CLINVAR |
Myofilament protein gene mutation screening and outcome of patients with hypertrophic cardiomyopathy.
|
18533079 |
2008 |
|
rs573916965
|
|
Familial Hypertrophic Cardiomyopathy Type 4
|
A |
0.800 |
CausalMutation
|
CLINVAR |
|
|
|
|
rs573916965
|
|
Familial Hypertrophic Cardiomyopathy Type 4
|
T |
0.800 |
CausalMutation
|
CLINVAR |
Sarcomere protein gene mutations in patients with apical hypertrophic cardiomyopathy.
|
21511876 |
2011 |
|
rs573916965
|
|
Familial Hypertrophic Cardiomyopathy Type 4
|
T |
0.800 |
CausalMutation
|
CLINVAR |
Ubiquitin-proteasome system impairment caused by a missense cardiac myosin-binding protein C mutation and associated with cardiac dysfunction in hypertrophic cardiomyopathy.
|
18929575 |
2008 |
|
rs573916965
|
|
Familial Hypertrophic Cardiomyopathy Type 4
|
T |
0.800 |
CausalMutation
|
CLINVAR |
Frequency and spectrum of actionable pathogenic secondary findings in 196 Korean exomes.
|
25856671 |
2015 |
|
rs573916965
|
|
Familial Hypertrophic Cardiomyopathy Type 4
|
T |
0.800 |
CausalMutation
|
CLINVAR |
Multiple gene mutations, not the type of mutation, are the modifier of left ventricle hypertrophy in patients with hypertrophic cardiomyopathy.
|
23283745 |
2013 |
|
rs573916965
|
|
Familial Hypertrophic Cardiomyopathy Type 4
|
T |
0.800 |
CausalMutation
|
CLINVAR |
Screening Mutations of MYBPC3 in 114 Unrelated Patients with Hypertrophic Cardiomyopathy by Targeted Capture and Next-generation Sequencing.
|
26090888 |
2015 |
|
rs573916965
|
|
Familial Hypertrophic Cardiomyopathy Type 4
|
T |
0.800 |
CausalMutation
|
CLINVAR |
Myosin binding protein C1: a novel gene for autosomal dominant distal arthrogryposis type 1.
|
20045868 |
2010 |
|
rs573916965
|
|
Familial Hypertrophic Cardiomyopathy Type 4
|
T |
0.800 |
CausalMutation
|
CLINVAR |
Mutations in the genes for sarcomeric proteins in Japanese patients with onset sporadic hypertrophic cardiomyopathy after age 40 years.
|
17560888 |
2007 |
|
rs573916965
|
|
Familial Hypertrophic Cardiomyopathy Type 4
|
T |
0.800 |
CausalMutation
|
CLINVAR |
Mutation spectrum in a large cohort of unrelated Chinese patients with hypertrophic cardiomyopathy.
|
23711808 |
2013 |
|
rs397516074
|
|
Familial Hypertrophic Cardiomyopathy Type 4
|
T |
0.800 |
CausalMutation
|
CLINVAR |
Clinical features and outcome of hypertrophic cardiomyopathy associated with triple sarcomere protein gene mutations.
|
20359594 |
2010 |
|
rs397516074
|
|
Familial Hypertrophic Cardiomyopathy Type 4
|
T |
0.800 |
CausalMutation
|
CLINVAR |
Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.
|
27532257 |
2017 |
|
rs397516074
|
|
Familial Hypertrophic Cardiomyopathy Type 4
|
T |
0.800 |
CausalMutation
|
CLINVAR |
Distinguishing hypertrophic cardiomyopathy-associated mutations from background genetic noise.
|
24510615 |
2014 |
|
rs397516074
|
|
Familial Hypertrophic Cardiomyopathy Type 4
|
T |
0.800 |
CausalMutation
|
CLINVAR |
Characterization of a phenotype-based genetic test prediction score for unrelated patients with hypertrophic cardiomyopathy.
|
24793961 |
2014 |
|
rs397516074
|
|
Familial Hypertrophic Cardiomyopathy Type 4
|
T |
0.800 |
CausalMutation
|
CLINVAR |
Myofilament protein gene mutation screening and outcome of patients with hypertrophic cardiomyopathy.
|
18533079 |
2008 |
|
rs397516074
|
|
Familial Hypertrophic Cardiomyopathy Type 4
|
T |
0.800 |
CausalMutation
|
CLINVAR |
Expression patterns of cardiac myofilament proteins: genomic and protein analysis of surgical myectomy tissue from patients with obstructive hypertrophic cardiomyopathy.
|
19808356 |
2009 |
|
rs397516074
|
|
Familial Hypertrophic Cardiomyopathy Type 4
|
T |
0.800 |
CausalMutation
|
CLINVAR |
"Hypertrophic cardiomyopathy: two homozygous cases with ""typical"" hypertrophic cardiomyopathy and three new mutations in cases with progression to dilated cardiomyopathy."
|
12951062 |
2003 |
|
rs397516074
|
|
Familial Hypertrophic Cardiomyopathy Type 4
|
T |
0.800 |
CausalMutation
|
CLINVAR |
Genetic and phenotypic characterization of mutations in myosin-binding protein C (MYBPC3) in 81 families with familial hypertrophic cardiomyopathy: total or partial haploinsufficiency.
|
15114369 |
2004 |
|
rs397516074
|
|
Familial Hypertrophic Cardiomyopathy Type 4
|
T |
0.800 |
CausalMutation
|
CLINVAR |
The 2373insG mutation in the MYBPC3 gene is a founder mutation, which accounts for nearly one-fourth of the HCM cases in the Netherlands.
|
14563344 |
2003 |
|
rs397516074
|
|
Familial Hypertrophic Cardiomyopathy Type 4
|
T |
0.800 |
CausalMutation
|
CLINVAR |
Results of clinical genetic testing of 2,912 probands with hypertrophic cardiomyopathy: expanded panels offer limited additional sensitivity.
|
25611685 |
2015 |