| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +1 more) | Meckel-Gruber syndrome +5 more | |
| | | Microsatellite (frameshift variant +1 more) | Retinal dystrophy | |
| | | Single nucleotide variant (synonymous variant +1 more) | Retinal dystrophy | |
Click to view in NCBI Gene