| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (nonsense) | Seizure +5 more | |
| | | Single nucleotide variant (nonsense) | Atypical behavior +3 more | |
| | | Single nucleotide variant (nonsense) | Atypical behavior +3 more | |
| | | Single nucleotide variant (splice acceptor variant) | Global developmental delay +1 more | |
| | | Deletion (frameshift variant +1 more) | Developmental delay, impaired speech, and behavioral abnormalities, with or without seizures | |
| | | Microsatellite (frameshift variant) | Atypical behavior +3 more | |
| | | Single nucleotide variant (nonsense) | Atypical behavior +3 more | |
| | | Single nucleotide variant (missense variant) | Delayed speech and language development +3 more | |
| | | Deletion (frameshift variant) | Atypical behavior +3 more | |
| | | Single nucleotide variant (nonsense) | Delayed speech and language development +3 more | |
| | | Deletion (frameshift variant) | Delayed speech and language development +3 more | |
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