| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Smith-Magenis Syndrome-like +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (splice donor variant) | Syndromic X-linked intellectual disability Najm type | |
| | | Single nucleotide variant (intron variant) | Syndromic X-linked intellectual disability Najm type | |
Click to view in NCBI Gene