| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +3 more | |
| | | Single nucleotide variant (missense variant) | PYCR1-related de Barsy syndrome +4 more | |
| | | Single nucleotide variant (missense variant) | Cutis laxa +3 more | GConflicting classifications of pathogenicity |
| | | Deletion (intron variant) | PYCR1-related disorder +4 more | |
Click to view in NCBI Gene