| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures +1 more | |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures | |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures | |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures | |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures | |
| | | Duplication (inframe_insertion) | Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures +1 more | |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures | |
| | | Microsatellite (inframe_deletion) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Microsatellite (inframe_deletion) | Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures | |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures | |
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