| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Microsatellite (inframe_deletion) | Neurodevelopmental disorder | |
| | | Single nucleotide variant (nonsense) | Neurodevelopmental disorder with speech delay and variable ocular anomalies +2 more | GConflicting classifications of pathogenicity |
| | | Duplication (frameshift variant) | Neurodevelopmental disorder with speech delay and variable ocular anomalies +1 more | |
| | | Duplication (frameshift variant) | Neurodevelopmental disorder | |
| | | Microsatellite (frameshift variant) | Neurodevelopmental disorder | |
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