| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | HFE, HFE-AS1 (S65C +1 more) | Single nucleotide variant (non-coding transcript variant +2 more) | Hemochromatosis type 1 +10 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Hereditary hemochromatosis +20 more | GPathogenic/Pathogenic, low penetrance; other; risk factor |
Click to view in NCBI Gene