However, our survey found more activating variants in genetic diseases (144 compared to 67 considering the 211 true disease variants; 126 of these are non-tumour/cancer predisposition variants; Additional file 2: Table S5), including kinases activating in Parkinson’s disease (kinase LRRK2), immunodeficiency (SYK), or Pfeiffer syndrome (FGFR2). Here, SYK is linked to Pfeiffer syndrome.