| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Tooth agenesis (RFX2) | hypodontia, oligodontia | Autosomal Recessive | 19p13.3 | Missense | RFX2 | 1421T>C | Ile474Thr | Amino acid substitution | 2022/Khan et al. 2022 |
