| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Microsatellite (frameshift variant +1 more) | Inborn genetic diseases +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Renpenning syndrome +2 more | |
| | | Single nucleotide variant (nonsense) | PQBP1-related disorder +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Renpenning syndrome | |
Click to view in NCBI Gene