| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Hemochromatosis type 2A | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Hemochromatosis type 2A | |
| | | Deletion | not provided | |
| | | Copy number loss | not specified | |
| | | Copy number gain | See cases | |
Click to view in NCBI Gene