| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Indel (splice acceptor variant) | Intellectual disability +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Recurrent fever +24 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (intron variant +1 more) | Autistic behavior +2 more | |
| | | Single nucleotide variant (nonsense) | Autistic behavior +2 more | |
Click to view in NCBI Gene