| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (non-coding transcript variant +2 more) | Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity | |
| | | Deletion (non-coding transcript variant +3 more) | Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity | |
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