| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +1 more) | Pontocerebellar hypoplasia type 6 | |
| | | Single nucleotide variant (missense variant +1 more) | Pontocerebellar hypoplasia type 6 | |
| | | Microsatellite (5 prime UTR variant +2 more) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Pontocerebellar hypoplasia type 6 +1 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene