VPS13B and Cowden syndrome 1: Whole exome sequencing revealed a novel missense variant in the VPS13B gene within a CS family, thereby expanding the growing catalogue of disease-causing variants in VPS13B. Additionally, in this case, we meticulously adjusted the patient’s medication regimen, advised her to undergo a comprehensive ophthalmic examination, and instructed her to undergo regular blood glucose, lipid tests, and pregnancy examinations based on her current condition.