| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (nonsense) | PQBP1-related disorder +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Autism spectrum disorder | |
Click to view in NCBI Gene