| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Gillespie syndrome | |
| | | Single nucleotide variant (missense variant) | Spinocerebellar ataxia type 29 +5 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Gillespie syndrome | |
| | | Single nucleotide variant (missense variant) | Spinocerebellar ataxia type 15/16 | |
| | ITPR1, LOC126806590 (T2537P +3 more) | Single nucleotide variant (missense variant) | Spinocerebellar ataxia type 29 | |
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