| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Exudative vitreoretinopathy 2, X-linked | |
| | | Deletion (frameshift variant) | Atrophia bulborum hereditaria | |
| | | Single nucleotide variant (missense variant +1 more) | Atrophia bulborum hereditaria +1 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene