| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | PRICKLE2, PRICKLE2-AS1 (P684fs) | Duplication (non-coding transcript variant +1 more) | not provided | |
| | PRICKLE2, PRICKLE2-AS1 (V605F) | Single nucleotide variant (non-coding transcript variant +1 more) | Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis +2 more | GConflicting classifications of pathogenicity |
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