| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Duplication (inframe_insertion +2 more) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with cerebellar atrophy and with or without seizures | |
| | | Single nucleotide variant (nonsense) | Neurodevelopmental disorder with cerebellar atrophy and with or without seizures | |
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