| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | CEP76, PSMG2 (R625H +1 more) | Single nucleotide variant (missense variant +2 more) | Short stature | |
| | CEP76, PSMG2 (A329T +1 more) | Single nucleotide variant (missense variant +2 more) | Short stature | |
| | | Single nucleotide variant (missense variant +2 more) | Short stature | |
Click to view in NCBI Gene