| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Alzheimer disease type 1 +7 more | |
| | HFE, HFE-AS1 (H63D +1 more) | Single nucleotide variant (non-coding transcript variant +2 more) | Familial porphyria cutanea tarda +9 more | GPathogenic/Likely pathogenic/Pathogenic, low penetrance; other |
| | HFE, HFE-AS1 (S65C +1 more) | Single nucleotide variant (non-coding transcript variant +2 more) | Familial porphyria cutanea tarda +10 more | GConflicting classifications of pathogenicity |
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