| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (splice acceptor variant) | Gaze palsy, familial horizontal, with progressive scoliosis 1 | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant +1 more) | Gaze palsy, familial horizontal, with progressive scoliosis 1 | |
| | | Duplication | Distal trisomy 11q | |
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