| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Gillespie syndrome | |
| | | Single nucleotide variant (missense variant) | Gillespie syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Spinocerebellar ataxia type 29 +5 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Gillespie syndrome | |
| | | Single nucleotide variant (missense variant) | Gillespie syndrome | |
| | | Single nucleotide variant (missense variant) | Gillespie syndrome | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (missense variant) | Gillespie syndrome +2 more | |
| | | Single nucleotide variant (missense variant) | Autosomal dominant cerebellar ataxia +1 more | |
| | ITPR1, LOC126806590 (L2541P +3 more) | Single nucleotide variant (missense variant) | Gillespie syndrome +1 more | GConflicting classifications of pathogenicity |
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