Currently, known germline variants associated with RCC syndrome are VHL (von Hippel–Lindau syndrome), MET (hereditary papillary RCC), FH (hereditary leiomyomatosis and RCC), TSC1/2 (tuberous sclerosis complex), FLCN (Birt-Hogg-Dubé syndrome), SDHA/B/C/D (hereditary pheochromocytoma and paraganglioma), PTEN (Cowden syndrome) and BAP1 (BAP1 tumor predisposition syndrome) genes. The gene discussed is BAP1; the disease is Cowden disease.