×
Entrez Id:
673
Gene Symbol:
BRAF
BRAF
0.100
CausalMutation
disease
CLINVAR
×
Entrez Id:
653361
Gene Symbol:
NCF1
NCF1
0.100
CausalMutation
disease
CLINVAR
×
Entrez Id:
4607
Gene Symbol:
MYBPC3
MYBPC3
0.900
Biomarker
disease
GENOMICS_ENGLAND
Evaluating the Clinical Validity of Hypertrophic Cardiomyopathy Genes.
30681346
2019
×
Entrez Id:
4607
Gene Symbol:
MYBPC3
MYBPC3
0.900
Biomarker
disease
GENOMICS_ENGLAND
Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.
27532257
2017
×
Entrez Id:
4607
Gene Symbol:
MYBPC3
MYBPC3
0.900
GeneticVariation
disease
UNIPROT
Familial hypertrophic cardiomyopathy associated with a new mutation in gene MYBPC3.
28265379
2017
×
Entrez Id:
4607
Gene Symbol:
MYBPC3
MYBPC3
0.900
GeneticVariation
disease
CLINVAR
Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.
27532257
2017
×
Entrez Id:
4607
Gene Symbol:
MYBPC3
MYBPC3
0.900
CausalMutation
disease
CLINVAR
Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.
27532257
2017
×
Entrez Id:
4607
Gene Symbol:
MYBPC3
MYBPC3
0.900
Biomarker
disease
CLINGEN
Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.
27532257
2017
×
Entrez Id:
4607
Gene Symbol:
MYBPC3
MYBPC3
0.900
CausalMutation
disease
CLINVAR
A Next-Generation Sequencing Approach to Identify Gene Mutations in Early- and Late-Onset Hypertrophic Cardiomyopathy Patients of an Italian Cohort.
27483260
2016
×
Entrez Id:
4607
Gene Symbol:
MYBPC3
MYBPC3
0.900
GeneticVariation
disease
CLINVAR
Genetic investigation of 100 heart genes in sudden unexplained death victims in a forensic setting.
27650965
2016
×
Entrez Id:
4607
Gene Symbol:
MYBPC3
MYBPC3
0.900
Biomarker
disease
CLINGEN
Cardiac myosin-binding protein C (MYBPC3) in cardiac pathophysiology.
26358504
2015
×
Entrez Id:
4607
Gene Symbol:
MYBPC3
MYBPC3
0.900
CausalMutation
disease
CLINVAR
Actionable exomic incidental findings in 6503 participants: challenges of variant classification.
25637381
2015
×
Entrez Id:
4607
Gene Symbol:
MYBPC3
MYBPC3
0.900
CausalMutation
disease
CLINVAR
Screening Mutations of MYBPC3 in 114 Unrelated Patients with Hypertrophic Cardiomyopathy by Targeted Capture and Next-generation Sequencing.
26090888
2015
×
Entrez Id:
4607
Gene Symbol:
MYBPC3
MYBPC3
0.900
CausalMutation
disease
CLINVAR
An Investigation of the Molecular Mechanism of Double cMyBP-C Mutation in a Patient with End-Stage Hypertrophic Cardiomyopathy.
25971843
2015
×
Entrez Id:
4607
Gene Symbol:
MYBPC3
MYBPC3
0.900
CausalMutation
disease
CLINVAR
A founder MYBPC3 mutation results in HCM with a high risk of sudden death after the fourth decade of life.
25740977
2015
×
Entrez Id:
4607
Gene Symbol:
MYBPC3
MYBPC3
0.900
GeneticVariation
disease
CLINVAR
Compound heterozygous or homozygous truncating MYBPC3 mutations cause lethal cardiomyopathy with features of noncompaction and septal defects.
25335496
2015
×
Entrez Id:
4607
Gene Symbol:
MYBPC3
MYBPC3
0.900
CausalMutation
disease
CLINVAR
Frequency and spectrum of actionable pathogenic secondary findings in 196 Korean exomes.
25856671
2015
×
Entrez Id:
4607
Gene Symbol:
MYBPC3
MYBPC3
0.900
GeneticVariation
disease
CLINVAR
Results of clinical genetic testing of 2,912 probands with hypertrophic cardiomyopathy: expanded panels offer limited additional sensitivity.
25611685
2015
×
Entrez Id:
4607
Gene Symbol:
MYBPC3
MYBPC3
0.900
CausalMutation
disease
CLINVAR
Results of clinical genetic testing of 2,912 probands with hypertrophic cardiomyopathy: expanded panels offer limited additional sensitivity.
25611685
2015
×
Entrez Id:
4607
Gene Symbol:
MYBPC3
MYBPC3
0.900
CausalMutation
disease
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
×
Entrez Id:
4607
Gene Symbol:
MYBPC3
MYBPC3
0.900
CausalMutation
disease
CLINVAR
Compound heterozygous or homozygous truncating MYBPC3 mutations cause lethal cardiomyopathy with features of noncompaction and septal defects.
25335496
2015
×
Entrez Id:
4607
Gene Symbol:
MYBPC3
MYBPC3
0.900
Biomarker
disease
CLINGEN
Contractile dysfunction in a mouse model expressing a heterozygous MYBPC3 mutation associated with hypertrophic cardiomyopathy.
24464755
2014
×
Entrez Id:
4607
Gene Symbol:
MYBPC3
MYBPC3
0.900
GeneticVariation
disease
CLINVAR
Muscular dystrophy-associated SUN1 and SUN2 variants disrupt nuclear-cytoskeletal connections and myonuclear organization.
25210889
2014
×
Entrez Id:
4607
Gene Symbol:
MYBPC3
MYBPC3
0.900
CausalMutation
disease
CLINVAR
Sarcomere mutation-specific expression patterns in human hypertrophic cardiomyopathy.
25031304
2014
×
Entrez Id:
4607
Gene Symbol:
MYBPC3
MYBPC3
0.900
CausalMutation
disease
CLINVAR
Characterization of a phenotype-based genetic test prediction score for unrelated patients with hypertrophic cardiomyopathy.
24793961
2014