MCPH1 and microcephaly: Nonetheless, through the data cleaning, filtering steps, and the annotation for pathogenic variants in the MCPH1 gene in this study, a pathogenic missense p.Gly753Arg and two pathogenic frameshifts p.Asn189LysfsTer15 and p.Cys624Ter identified in this study already had entries in ClinVar and associated with microcephaly.