| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | HFE, HFE-AS1 (H63D +1 more) | Single nucleotide variant (non-coding transcript variant +2 more) | Hemochromatosis type 1 +9 more | GPathogenic/Likely pathogenic/Pathogenic, low penetrance; other |
| | | Single nucleotide variant (missense variant) | not specified +1 more | GConflicting classifications of pathogenicity |
| | | Deletion (inframe_deletion) | Cystic fibrosis | |
| | | Single nucleotide variant | Bronchiectasis with or without elevated sweat chloride 1 +4 more | |
Click to view in NCBI Gene