| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Oculocerebrofacial syndrome, Kaufman type +1 more | |
| | | Deletion (nonsense) | Oculocerebrofacial syndrome, Kaufman type | |
| | | Single nucleotide variant (missense variant) | Optic nerve hypoplasia +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Oculocerebrofacial syndrome, Kaufman type +2 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
Click to view in NCBI Gene