TSC1 and neoplasm: These comprised two truncating pathogenic variants—RB1 R255* and TSC1 R786*, one missense probable damaging variant—VHL tumor suppressor R58W [21], and four splice variants of unknown significance in ETS2 transcription factor, SGK1 serum/glucocorticoid regulated kinase 1, AXL RTK and MIB1 (Figure 3D).