| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Indel (frameshift variant +1 more) | Pontocerebellar hypoplasia type 2B | |
| | | Single nucleotide variant (missense variant +1 more) | Pontocerebellar hypoplasia type 2B +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +2 more | |
Click to view in NCBI Gene