| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Ataxia-telangiectasia-like (ATLD1, MRE11A) | Developmental delay, ataxia & HI | Autosomal Recessive | 11q21 | Nonsense | MRE11A | 1897C>T | Arg633* | Premature Termination | Stewart et al., 1999/1999 |
| Ataxia-telangiectasia-like (ATLD1, MRE11A) | evelopmental delay, ataxia & HI etc | Autosomal Recessive | 11q21 | Nonsense | MRE11A | 897C>T | Arg633* | Premature Termination | Chaki et al., 2012/2012 |
