| | | Single nucleotide variant (intron variant) | Protoporphyria, erythropoietic, 1 | |
| | | Single nucleotide variant (missense variant) | Protoporphyria, erythropoietic, 1 | |
| | | Single nucleotide variant (nonsense) | Protoporphyria, erythropoietic, 1 +1 more | GPathogenic/Likely pathogenic |
| | FECH, LOC130062560 (A14fs) | Deletion (frameshift variant +1 more) | Protoporphyria, erythropoietic, 1 +1 more | |
| | | Single nucleotide variant (missense variant) | Protoporphyria, erythropoietic, 1 +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Protoporphyria, erythropoietic, 1 +1 more | |
| | | Single nucleotide variant (missense variant) | Variegate porphyria +5 more | |
| | | Single nucleotide variant (missense variant) | Variegate porphyria +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Protoporphyria, erythropoietic, 1 +1 more | |
| | | Single nucleotide variant (missense variant) | Protoporphyria, erythropoietic, 1 +3 more | |
| | | Single nucleotide variant (nonsense +1 more) | Protoporphyria, erythropoietic, 1 | |
| | | Microsatellite (frameshift variant) | FECH-related disorder +2 more | |
| | | Single nucleotide variant (missense variant) | Protoporphyria, erythropoietic, 1 +1 more | |
| | | Single nucleotide variant (missense variant) | Protoporphyria, erythropoietic, 1 | |
| | | Single nucleotide variant (intron variant) | Protoporphyria, erythropoietic, 1 | |
| | | Single nucleotide variant (intron variant) | Protoporphyria, erythropoietic, 1 | |
| | | Deletion (frameshift variant) | Protoporphyria, erythropoietic, 1 | |
| | | Single nucleotide variant (splice donor variant) | not provided +1 more | |
| | | Single nucleotide variant (intron variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Acute intermittent porphyria +2 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Protoporphyria, erythropoietic, 1 +1 more | |
| | | Single nucleotide variant (missense variant) | Acute intermittent porphyria +5 more | |
| | | Single nucleotide variant (missense variant) | Protoporphyria, erythropoietic, 1 +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Protoporphyria, erythropoietic, 1 | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | not specified +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Protoporphyria, erythropoietic, 1 | |
| | | Single nucleotide variant (missense variant) | Protoporphyria, erythropoietic, 1 +1 more | |
| | | Single nucleotide variant (intron variant) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Protoporphyria, erythropoietic, 1 | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (intron variant) | Protoporphyria, erythropoietic, 1 | |
| | | Single nucleotide variant (intron variant) | not provided +1 more | |
| | | Single nucleotide variant (intron variant) | FECH-related disorder +2 more | |
| | | Single nucleotide variant (missense variant) | Protoporphyria, erythropoietic, 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Protoporphyria, erythropoietic, 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Protoporphyria, erythropoietic, 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Protoporphyria, erythropoietic, 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Protoporphyria, erythropoietic, 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Protoporphyria, erythropoietic, 1 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Protoporphyria, erythropoietic, 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Protoporphyria, erythropoietic, 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Protoporphyria, erythropoietic, 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Protoporphyria, erythropoietic, 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Protoporphyria, erythropoietic, 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Protoporphyria, erythropoietic, 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Protoporphyria, erythropoietic, 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Protoporphyria, erythropoietic, 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Protoporphyria, erythropoietic, 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Protoporphyria, erythropoietic, 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Protoporphyria, erythropoietic, 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Protoporphyria, erythropoietic, 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Protoporphyria, erythropoietic, 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Protoporphyria, erythropoietic, 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Protoporphyria, erythropoietic, 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Protoporphyria, erythropoietic, 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Protoporphyria, erythropoietic, 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Protoporphyria, erythropoietic, 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Protoporphyria, erythropoietic, 1 | |
| | | Indel (3 prime UTR variant) | Protoporphyria, erythropoietic, 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Protoporphyria, erythropoietic, 1 | |
| | | Insertion (3 prime UTR variant) | Protoporphyria, erythropoietic, 1 | |
| | | Insertion (3 prime UTR variant) | Protoporphyria, erythropoietic, 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Protoporphyria, erythropoietic, 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Protoporphyria, erythropoietic, 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Protoporphyria, erythropoietic, 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Protoporphyria, erythropoietic, 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Protoporphyria, erythropoietic, 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Protoporphyria, erythropoietic, 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Protoporphyria, erythropoietic, 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Protoporphyria, erythropoietic, 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Protoporphyria, erythropoietic, 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Protoporphyria, erythropoietic, 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Protoporphyria, erythropoietic, 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Protoporphyria, erythropoietic, 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Protoporphyria, erythropoietic, 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Protoporphyria, erythropoietic, 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Protoporphyria, erythropoietic, 1 | |
| | | Microsatellite (3 prime UTR variant) | Protoporphyria, erythropoietic, 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Protoporphyria, erythropoietic, 1 | |
| | | Insertion (3 prime UTR variant) | Protoporphyria, erythropoietic, 1 | |
| | | Insertion (3 prime UTR variant) | Protoporphyria, erythropoietic, 1 | |
| | | Duplication (3 prime UTR variant) | Protoporphyria, erythropoietic, 1 | |
| | | Duplication (3 prime UTR variant) | Protoporphyria, erythropoietic, 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Protoporphyria, erythropoietic, 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Protoporphyria, erythropoietic, 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Protoporphyria, erythropoietic, 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Protoporphyria, erythropoietic, 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Protoporphyria, erythropoietic, 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Protoporphyria, erythropoietic, 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Protoporphyria, erythropoietic, 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Protoporphyria, erythropoietic, 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Protoporphyria, erythropoietic, 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Protoporphyria, erythropoietic, 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Protoporphyria, erythropoietic, 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Protoporphyria, erythropoietic, 1 | |