| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (splice acceptor variant) | Oculocerebrofacial syndrome, Kaufman type | |
| | | Single nucleotide variant (missense variant) | Oculocerebrofacial syndrome, Kaufman type | |
| | | Deletion (frameshift variant) | Oculocerebrofacial syndrome, Kaufman type | |
Click to view in NCBI Gene