| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (nonsense +1 more) | Familial porphyria cutanea tarda +1 more | GPathogenic/Likely pathogenic |
| | 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 |
| | | Single nucleotide variant (missense variant +1 more) | Hemochromatosis type 1 +19 more | GPathogenic/Pathogenic, low penetrance; other; risk factor |
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