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Variant Pathogenicity
MYBPC3
Name
MYBPC3
HGNC ID
HGNC:7551
Cytogenetic Location
11p11.2
Haploinsufficiency
Sufficient Evidence
Triplosensitivity
No Evidence
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ClinVar Variants
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External Genomic Resources
ClinVar Variants
MYBPC3
-
dilated cardiomyopathy
| MONDO:0005021
Curated by
Classification
Date
Report
Gene-Disease Validity
Limited
Autosomal Dominant
09/04/2020
View report
MYBPC3
-
hypertrophic cardiomyopathy 4
| MONDO:0007268
Curated by
Classification
Date
Report
Gene-Disease Validity
Definitive
Autosomal Dominant
09/05/2017
View report
Clinical Actionability
View report for scoring details
08/14/2017
View report
MYBPC3
-
arrhythmogenic right ventricular cardiomyopathy
| MONDO:0016587
Curated by
Classification
Date
Report
Gene-Disease Validity
Limited
Autosomal Dominant
08/06/2019
View report
MYBPC3
Curated by
Classification
Date
Report
Dosage Sensitivity
Sufficient Evidence for Haploinsufficiency
08/22/2019
View report
No Evidence for Triplosensitivity
08/22/2019
View report
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