| | | Single nucleotide variant (missense variant) | Variegate porphyria | |
| | B4GALT3, PPOX +1 more (E141fs) | Deletion (5 prime UTR variant +2 more) | Variegate porphyria | |
| | | Single nucleotide variant (missense variant) | Variegate porphyria | |
| | | Single nucleotide variant (missense variant +2 more) | Variegate porphyria | |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Protoporphyria, erythropoietic, 1 +5 more | |
| | | Single nucleotide variant (missense variant) | Acute intermittent porphyria +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (splice donor variant) | Microvascular complications of diabetes, susceptibility to, 7 +7 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (splice donor variant) | Variegate porphyria | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant) | Variegate porphyria +5 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Hemochromatosis type 1 +5 more | |
| | | Single nucleotide variant (5 prime UTR variant) | Variegate porphyria | |
| | | Single nucleotide variant (missense variant) | Variegate porphyria | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Variegate porphyria +1 more | |
| | | Single nucleotide variant (missense variant) | Variegate porphyria | |
| | | Single nucleotide variant (synonymous variant) | Variegate porphyria | |
| | | Single nucleotide variant (missense variant) | Variegate porphyria | |
| | | Single nucleotide variant (missense variant +2 more) | Variegate porphyria | |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | |
| | | Duplication (frameshift variant) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Alzheimer disease type 1 +5 more | |
| | | Deletion (splice acceptor variant) | Variegate porphyria | |
| | | Deletion | Variegate porphyria +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | Hemochromatosis type 1 +6 more | |
| | | Single nucleotide variant (missense variant) | not provided +5 more | |
| | | Deletion (frameshift variant +1 more) | Hereditary hemochromatosis +6 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Variegate porphyria +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Variegate porphyria | |
| | | Single nucleotide variant (synonymous variant +1 more) | Variegate porphyria +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Variegate porphyria | |
| | | Single nucleotide variant (intron variant) | Variegate porphyria +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Variegate porphyria | |
| | | Single nucleotide variant (intron variant) | Variegate porphyria +1 more | |
| | | Single nucleotide variant (synonymous variant +2 more) | Variegate porphyria +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Variegate porphyria | |
| | | Single nucleotide variant (intron variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant +1 more) | Variegate porphyria | |
| | | Single nucleotide variant (5 prime UTR variant) | Variegate porphyria | |
| | | Single nucleotide variant (5 prime UTR variant) | Variegate porphyria | |
| | | Single nucleotide variant (5 prime UTR variant) | not provided +1 more | |
| | | Single nucleotide variant (5 prime UTR variant) | Variegate porphyria | |
| | | Single nucleotide variant (5 prime UTR variant) | Variegate porphyria | |
| | | Single nucleotide variant (5 prime UTR variant) | Variegate porphyria | |
| | | Single nucleotide variant (5 prime UTR variant) | Variegate porphyria | |
| | | Single nucleotide variant (5 prime UTR variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (5 prime UTR variant) | not provided +1 more | |
| | | Single nucleotide variant (5 prime UTR variant) | Variegate porphyria | |
| | | Single nucleotide variant (missense variant) | not provided +4 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +7 more | |
| | | Single nucleotide variant (missense variant +1 more) | Hereditary coproporphyria +4 more | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided +7 more | |
| | | Deletion (nonsense +1 more) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | ABCB6-related condition +4 more | |
| | | Single nucleotide variant (missense variant) | PPOX-related condition +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Variegate porphyria, childhood-onset +1 more | |
| | | Single nucleotide variant | Variegate porphyria, childhood-onset +1 more | |
| | | Deletion (frameshift variant) | Variegate porphyria | |
| | | Deletion (frameshift variant) | Variegate porphyria | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Variegate porphyria | |
| | | Single nucleotide variant (missense variant) | Variegate porphyria +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided | |
| | HFE, HFE-AS1 (S65C +1 more) | Single nucleotide variant (non-coding transcript variant +2 more) | Familial porphyria cutanea tarda +10 more | GConflicting classifications of pathogenicity |
| | HFE, HFE-AS1 (H63D +1 more) | Single nucleotide variant (non-coding transcript variant +2 more) | Hemochromatosis type 1 +9 more | GPathogenic/Pathogenic, low penetrance; other |
| | | Single nucleotide variant (missense variant +1 more) | Familial porphyria cutanea tarda +20 more | GPathogenic/Pathogenic, low penetrance; other; risk factor |