| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (nonsense +1 more) | Developmental delay, impaired speech, and behavioral abnormalities, with or without seizures | |
| | | Single nucleotide variant (splice donor variant) | Developmental delay, impaired speech, and behavioral abnormalities, with or without seizures | |
| | | Single nucleotide variant (splice donor variant +1 more) | Developmental delay, impaired speech, and behavioral abnormalities, with or without seizures | |
Click to view in NCBI Gene