| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | HFE, HFE-AS1 (V45M +1 more) | Single nucleotide variant (non-coding transcript variant +2 more) | Hemochromatosis type 1 | |
| | | Single nucleotide variant (splice donor variant) | Alzheimer disease type 1 +7 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant +1 more) | Hereditary hemochromatosis +1 more | |
Click to view in NCBI Gene