| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (splice acceptor variant) | Oculocerebrofacial syndrome, Kaufman type | |
| | | Single nucleotide variant (nonsense) | Oculocerebrofacial syndrome, Kaufman type | |
| | | Single nucleotide variant (splice donor variant) | Oculocerebrofacial syndrome, Kaufman type | |
| | | Microsatellite (inframe_deletion) | Oculocerebrofacial syndrome, Kaufman type +1 more | GConflicting classifications of pathogenicity |
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