Links from MedGen
Items: 5
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Hemochromatosis type 2A +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant | Juvenile hemochromatosis | |
| | | Microsatellite (inframe_deletion +2 more) | Juvenile hemochromatosis | |
| | | Deletion | Juvenile hemochromatosis | |
| | | Single nucleotide variant (missense variant +1 more) | HFE-related condition +20 more | GPathogenic/Pathogenic, low penetrance; other; risk factor |
Click to view in NCBI Gene