BAP1-related tumor predisposition syndrome

Name
BAP1-related tumor predisposition syndrome
Ontological Reference
MONDO:0013692
Name
BAP1-related tumor predisposition syndrome
Ontological Reference
MONDO:0013692
ClinVar Variants
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External Resources
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Curated by Classification Date Report
Clinicalvalidity on Gene-Disease Validity Definitive
Autosomal Dominant 10/12/2018 View report
Dosagesensitivity on Gene Dosage Sensitivity Sufficient Evidence for Haploinsufficiency 12/27/2019 View report
Clinicalactionability on Clinical Actionability View report for scoring details 11/20/2017 View report