| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Amelogenesis imperfecta, type IIA5 (SLC24A4) | Amelogenesis imperfecta | Autosomal Recessive | 14q32.12 | Nonsense | SLC24A4 | c.1192C>T | Gln398* | PTC | 2020/Khan et al. 2020 |
