| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| MCPH7 (STIL) | Microcephaly | Autosomal Recessive | 1p33 | Nonsense | STIL | c.3694C>T | Arg1232* | PTC | /Rasool et al. 2020 |
| MCPH7 (STIL) | Microcephaly | Autosomal Recessive | 1p33 | Duplication | STIL | c.3759dupT | Pro1254Serfs*2 | Frameshift and PTC | /Rasool et al. 2020 |
