Comprehensive Study of the Clinical Phenotype of Germline<i>BAP1</i>Variant-Carrying Families Worldwide

This analysis substantially increases the number of pathogenic BAP1 germline variants and refines the phenotype. It highlights the need for a curated registry of germline variant carriers for proper assessment of the clinical phenotype of the BAP1-TPDS and pathogenicity of new variants, thus guiding management of patients and informing areas requiring further research.