| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Exudative vitreoretinopathy 5 +3 more | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Hearing impairment +2 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene