| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | 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) | Cystic fibrosis | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Alpha-1-antitrypsin deficiency +4 more | GPathogenic/Pathogenic, low penetrance; other |
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