| | | Deletion | Porphyria, acute intermittent, nonerythroid variant | |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | | Deletion (frameshift variant +1 more) | Porphyria, acute intermittent, nonerythroid variant | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Acute intermittent porphyria | |
| | | Single nucleotide variant (missense variant) | Acute intermittent porphyria | |
| | | Single nucleotide variant (missense variant) | not specified +1 more | |
| | | Deletion (frameshift variant) | Acute intermittent porphyria | |
| | | Duplication (frameshift variant) | Acute intermittent porphyria | |
| | | Single nucleotide variant (splice acceptor variant) | Acute intermittent porphyria | |
| | | Microsatellite (frameshift variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Encephalopathy, porphyria-related | |
| | | Single nucleotide variant (missense variant) | Leukoencephalopathy, porphyria-related | |
| | | Single nucleotide variant (splice donor variant) | Acute intermittent porphyria | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Acute intermittent porphyria +1 more | |
| | | Single nucleotide variant (nonsense) | Acute intermittent porphyria +1 more | |
| | | Single nucleotide variant (missense variant) | Acute intermittent porphyria | |
| | | Single nucleotide variant (nonsense) | Acute intermittent porphyria | |
| | | Single nucleotide variant (splice acceptor variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Acute intermittent porphyria +1 more | |
| | | Single nucleotide variant (missense variant) | Acute intermittent porphyria | |
| | | Single nucleotide variant (missense variant) | Acute intermittent porphyria +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (nonsense) | Acute intermittent porphyria | |
| | | Single nucleotide variant (missense variant) | Acute intermittent porphyria +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Acute intermittent porphyria +1 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Acute intermittent porphyria +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Microsatellite (frameshift variant +1 more) | not provided | |
| | | Duplication (frameshift variant +1 more) | Acute intermittent porphyria | |
| | | Single nucleotide variant (missense variant +1 more) | Acute intermittent porphyria | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Acute intermittent porphyria | |
| | | Single nucleotide variant (missense variant +1 more) | Acute intermittent porphyria +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Acute intermittent porphyria | |
| | | Single nucleotide variant (missense variant +1 more) | Acute intermittent porphyria | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (intron variant +1 more) | Acute intermittent porphyria | |
| | | Deletion (frameshift variant) | Acute intermittent porphyria | |
| | | Single nucleotide variant (nonsense) | not provided | |
| | | Deletion (frameshift variant) | Acute intermittent porphyria | |
| | | Single nucleotide variant (splice acceptor variant) | not provided | |
| | | Insertion | Acute intermittent porphyria | |