| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Diamond-Blackfan Anemia 8 (DBA8,RPS7 ) | Diamond-Blackfan anemia 8 | Autosomal Dominant | 2p25.3 | Substitution | RPS7 | c.508-3T > G | p.Val170Serfs*8 | Frameshift | Akram et al., 2020/2020 |
