| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Microsatellite (frameshift variant +1 more) | Leber congenital amaurosis 10 | |
| | | Single nucleotide variant (missense variant) | Familial aplasia of the vermis +3 more | |
| | | Single nucleotide variant (nonsense) | Meckel-Gruber syndrome +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (splice donor variant) | Leber congenital amaurosis 10 | |
Click to view in NCBI Gene