| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | ITPR1, LOC126806590 (G2491W +3 more) | Single nucleotide variant (missense variant) | not provided | |
| | ITPR1, LOC126806590 (I2535T +3 more) | Single nucleotide variant (missense variant) | Spinocerebellar ataxia type 29 +1 more | GPathogenic/Likely pathogenic |
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