| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Deletion (frameshift variant) | Oculocerebrofacial syndrome, Kaufman type | |
| | | Single nucleotide variant (splice donor variant) | not provided +2 more | GPathogenic/Likely pathogenic |
| | | Duplication (frameshift variant) | Oculocerebrofacial syndrome, Kaufman type | |
| | | Single nucleotide variant (splice acceptor variant) | Oculocerebrofacial syndrome, Kaufman type | |
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