| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Autosomal-recessive cerebellar ataxias (ARCAs) | Slowly progressive gait ataxia, body imbalance, and dysarthria | Autosomal Recessive | 5q12.1 | Substitution | ERCC8 | c.176T>C | p.M59T | Missense | Gauhar et al., 2022/2022 |
