| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (nonsense) | Poirier-Bienvenu neurodevelopmental syndrome +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Poirier-Bienvenu neurodevelopmental syndrome | |
| | | Single nucleotide variant (nonsense) | Poirier-Bienvenu neurodevelopmental syndrome +3 more | |
| | | Single nucleotide variant (missense variant) | Poirier-Bienvenu neurodevelopmental syndrome | |
| | | Single nucleotide variant (nonsense) | Poirier-Bienvenu neurodevelopmental syndrome | |
| | | Single nucleotide variant (intron variant) | Poirier-Bienvenu neurodevelopmental syndrome | |
| | | Indel (missense variant) | Poirier-Bienvenu neurodevelopmental syndrome | |
| | | Single nucleotide variant (missense variant) | Poirier-Bienvenu neurodevelopmental syndrome | |
| | | Duplication (frameshift variant) | Poirier-Bienvenu neurodevelopmental syndrome | |
| | | Single nucleotide variant (missense variant) | Poirier-Bienvenu neurodevelopmental syndrome | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene