| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided +9 more | |
| | | Single nucleotide variant (missense variant) | not specified +11 more | GConflicting classifications of pathogenicity |
| | | Microsatellite (non-coding transcript variant +1 more) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Exudative vitreoretinopathy 1 | |
| | | Microsatellite (non-coding transcript variant +1 more) | not provided +1 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene