| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Ataxia-telangiectasia (ATM) | Ataxia-telangiectasia | Autosomal Recessive | 11q22.3 | Substitution | ATM | c.7969A>T | p.Lys2657Ter | Nonsense | Akram et al., 2024/2024 |
