| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +1 more) | Renpenning syndrome | |
| | | Microsatellite (frameshift variant +1 more) | not provided +4 more | GPathogenic/Likely pathogenic |
| | PQBP1, SLC35A2 (R114W +4 more) | Single nucleotide variant (missense variant) | not provided +1 more | |
Click to view in NCBI Gene