| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | EXOSC8, LOC130009581 (F5L) | Single nucleotide variant (missense variant) | Pontocerebellar hypoplasia, type 1C +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Pontocerebellar hypoplasia, type 1C | |
| | | Single nucleotide variant (missense variant) | Pontocerebellar hypoplasia, type 1C +1 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene