TSC2 and Cortical tubers: The exon 5 and exon 31 variants (TSC2 c.569dup and TSC2 c.3846_3855delinsG) are both inherited from a parent who also has clinical TSC (hypomelanotic macules, facial angiofibromas, cortical tubers, epilepsy, intellectual disability, and renal angiomyolipomas).