| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (missense variant +1 more) | UROD-related disorder +1 more | |
| | | Single nucleotide variant (nonsense +1 more) | Familial porphyria cutanea tarda +1 more | GPathogenic/Likely pathogenic |
| | | Duplication (frameshift variant +1 more) | Familial porphyria cutanea tarda | |
| | | Single nucleotide variant (splice donor variant) | Variegate porphyria +7 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene