| 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 | Insertion | ATM | c.6196_6197insGAA | p.Gln2066delinsArgLys | Inframe Deletion-Insertion | Akram et al., 2024/2024 |
