| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (nonsense) | Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures | |
| | | Single nucleotide variant (nonsense) | IRF2BPL-related disorder +2 more | GPathogenic/Likely pathogenic |
| | IRF2BPL, LOC107984638 (Q103fs) | Insertion (frameshift variant) | Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures | |
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