| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | GLCE, PAQR5-DT (A450T +1 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | PAQR5-DT, GLCE (K111I +1 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | PAQR5-DT, GLCE (S355N +1 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
Click to view in NCBI Gene