| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Ataxia/Dystonia(SACS) | ataxia,muscular atrophy | Autosomal Recessive | 13q12.12 | Frameshift Mutation | SACS | 9119dupA | Asn3040- Lysfs*4 | Duplication | 0/Manzoor H et.al.,,,2018 |
