| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Duplication (frameshift variant) | Autosomal recessive cerebellar ataxia +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense +1 more) | Corneal dystrophy, punctiform and polychromatic pre-descemet +2 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene