Most of these mutations are missense/nonsense (64 variants), small deletions (58 variants), splicing mutations (12 variants), small insertions (9 variants), gross deletions (2 variants), and complex rearrangement (1 variant), and these pathogenic variants have been reported to cause primary microcephaly, MCPH5, and microcephaly with intellectual disability. The gene discussed is ASPM; the disease is Primary microcephaly.