|
Familial Hypertrophic Cardiomyopathy Type 4
|
0.900 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Evaluating the Clinical Validity of Hypertrophic Cardiomyopathy Genes.
|
30681346 |
2019 |
|
Familial Hypertrophic Cardiomyopathy Type 4
|
0.900 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.
|
27532257 |
2017 |
|
Familial Hypertrophic Cardiomyopathy Type 4
|
0.900 |
GeneticVariation
|
disease |
UNIPROT |
Familial hypertrophic cardiomyopathy associated with a new mutation in gene MYBPC3.
|
28265379 |
2017 |
|
Familial Hypertrophic Cardiomyopathy Type 4
|
0.900 |
GeneticVariation
|
disease |
CLINVAR |
Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.
|
27532257 |
2017 |
|
Familial Hypertrophic Cardiomyopathy Type 4
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.
|
27532257 |
2017 |
|
Familial Hypertrophic Cardiomyopathy Type 4
|
0.900 |
Biomarker
|
disease |
CLINGEN |
Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.
|
27532257 |
2017 |
|
Familial Hypertrophic Cardiomyopathy Type 4
|
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 |
|
Familial Hypertrophic Cardiomyopathy Type 4
|
0.900 |
GeneticVariation
|
disease |
CLINVAR |
Genetic investigation of 100 heart genes in sudden unexplained death victims in a forensic setting.
|
27650965 |
2016 |
|
Familial Hypertrophic Cardiomyopathy Type 4
|
0.900 |
Biomarker
|
disease |
CLINGEN |
Cardiac myosin-binding protein C (MYBPC3) in cardiac pathophysiology.
|
26358504 |
2015 |
|
Familial Hypertrophic Cardiomyopathy Type 4
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Actionable exomic incidental findings in 6503 participants: challenges of variant classification.
|
25637381 |
2015 |
|
Familial Hypertrophic Cardiomyopathy Type 4
|
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 |
|
Familial Hypertrophic Cardiomyopathy Type 4
|
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 |
|
Familial Hypertrophic Cardiomyopathy Type 4
|
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 |
|
Familial Hypertrophic Cardiomyopathy Type 4
|
0.900 |
GeneticVariation
|
disease |
CLINVAR |
Compound heterozygous or homozygous truncating MYBPC3 mutations cause lethal cardiomyopathy with features of noncompaction and septal defects.
|
25335496 |
2015 |
|
Familial Hypertrophic Cardiomyopathy Type 4
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Frequency and spectrum of actionable pathogenic secondary findings in 196 Korean exomes.
|
25856671 |
2015 |
|
Familial Hypertrophic Cardiomyopathy Type 4
|
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 |
|
Familial Hypertrophic Cardiomyopathy Type 4
|
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 |
|
Familial Hypertrophic Cardiomyopathy Type 4
|
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 |
|
Familial Hypertrophic Cardiomyopathy Type 4
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Compound heterozygous or homozygous truncating MYBPC3 mutations cause lethal cardiomyopathy with features of noncompaction and septal defects.
|
25335496 |
2015 |
|
Familial Hypertrophic Cardiomyopathy Type 4
|
0.900 |
Biomarker
|
disease |
CLINGEN |
Contractile dysfunction in a mouse model expressing a heterozygous MYBPC3 mutation associated with hypertrophic cardiomyopathy.
|
24464755 |
2014 |
|
Familial Hypertrophic Cardiomyopathy Type 4
|
0.900 |
GeneticVariation
|
disease |
CLINVAR |
Muscular dystrophy-associated SUN1 and SUN2 variants disrupt nuclear-cytoskeletal connections and myonuclear organization.
|
25210889 |
2014 |
|
Familial Hypertrophic Cardiomyopathy Type 4
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Sarcomere mutation-specific expression patterns in human hypertrophic cardiomyopathy.
|
25031304 |
2014 |
|
Familial Hypertrophic Cardiomyopathy Type 4
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Characterization of a phenotype-based genetic test prediction score for unrelated patients with hypertrophic cardiomyopathy.
|
24793961 |
2014 |
|
Familial Hypertrophic Cardiomyopathy Type 4
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Mutation analysis of the main hypertrophic cardiomyopathy genes using multiplex amplification and semiconductor next-generation sequencing.
|
25342278 |
2014 |
|
Familial Hypertrophic Cardiomyopathy Type 4
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Distinguishing hypertrophic cardiomyopathy-associated mutations from background genetic noise.
|
24510615 |
2014 |