| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Global developmental delay +1 more | |
| | | Single nucleotide variant (nonsense) | Developmental delay with or without intellectual impairment or behavioral abnormalities | |
| | | Single nucleotide variant (nonsense +1 more) | See cases +2 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene