Finally, truncating or previously functionally described deleterious missense mutations were observed in CBL (predisposing to Noonan syndrome, OMIM ID: 613563), EPCAM (Lynch syndrome/hereditary nonpolyposis colorectal cancer, OMIM ID: 613244), NF1 (Neurofibromatosis, OMIM ID: 162200), PALB2 (breast cancer, OMIM ID: 114480), TP53 (Li Fraumeni Syndrome, OMIM ID: 151623) and TSC2 (Tuberous sclerosis type 2, OMIM ID: 613254) in the UK10K control cohort. The gene discussed is CBL; the disease is neurofibromatosis.