| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (nonsense +1 more) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Pontocerebellar hypoplasia type 6 | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Pontocerebellar hypoplasia type 6 | |
| | | Single nucleotide variant (5 prime UTR variant +3 more) | not provided +2 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene