| | | Deletion (intron variant) | Cutaneous porphyria | |
| | | Single nucleotide variant (intron variant) | Cutaneous porphyria +1 more | |
| | | Single nucleotide variant (intron variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Cutaneous porphyria | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Cutaneous porphyria | |
| | | Single nucleotide variant (missense variant +1 more) | Cutaneous porphyria | |
| | | Single nucleotide variant (missense variant +1 more) | Cutaneous porphyria | |
| | | Single nucleotide variant (missense variant +1 more) | Cutaneous porphyria | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Cutaneous porphyria | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Cutaneous porphyria | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Cutaneous porphyria | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Cutaneous porphyria | |
| | | Single nucleotide variant (intron variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Cutaneous porphyria | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Cutaneous porphyria | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Cutaneous porphyria | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Cutaneous porphyria | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Cutaneous porphyria | |
| | | Single nucleotide variant (intron variant) | Cutaneous porphyria | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Cutaneous porphyria +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Cutaneous porphyria +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Cutaneous porphyria +2 more | |
| | | Single nucleotide variant (intron variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Cutaneous porphyria +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Cutaneous porphyria +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Cutaneous porphyria | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Cutaneous porphyria | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Cutaneous porphyria | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Cutaneous porphyria | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Cutaneous porphyria | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not specified +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Cutaneous porphyria | |
| | | Single nucleotide variant (missense variant +1 more) | Cutaneous porphyria | |
| | | Single nucleotide variant (missense variant) | X-linked dyserythropoetic anemia with abnormal platelets and neutropenia +2 more | |
| | | Single nucleotide variant (intron variant) | Cutaneous porphyria | |
| | | Single nucleotide variant (missense variant +1 more) | Cutaneous porphyria | |
| | | Duplication (intron variant +1 more) | Cutaneous porphyria | |
| | | Single nucleotide variant (splice donor variant) | UROS-related disorder +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (intron variant) | Cutaneous porphyria | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Cutaneous porphyria | |
| | | Single nucleotide variant (missense variant +1 more) | Cutaneous porphyria | |
| | | Single nucleotide variant (missense variant +1 more) | Cutaneous porphyria | |
| | | Single nucleotide variant (missense variant +1 more) | Cutaneous porphyria | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | | Insertion | Cutaneous porphyria | |
| | | Deletion | Cutaneous porphyria | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | UROS-related disorder +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Cutaneous porphyria | |
| | | Single nucleotide variant (missense variant +1 more) | Cutaneous porphyria | |
| | | Single nucleotide variant (missense variant +1 more) | Cutaneous porphyria | |
| | | Single nucleotide variant (missense variant +1 more) | Cutaneous porphyria +1 more | |