| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Autosomal recessive spinocerebellar ataxia-29 (SCA 29) | Spinocerebellar ataxia 29, congenital nonprogressive | Autosomal Recessive | 3p26.1 | Substitution | ITPR1 | c.5360T>C | p.(L1787P) | Missense | Klar et al., 2017/2017 |
