| | | Single nucleotide variant (non-coding transcript variant +1 more) | HFE-related condition | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Hereditary hemochromatosis | |
| | | Single nucleotide variant (non-coding transcript variant +2 more) | Hereditary hemochromatosis | |
| | | Single nucleotide variant (synonymous variant +1 more) | Hereditary hemochromatosis | |
| | HFE, HFE-AS1 (R67C +1 more) | Single nucleotide variant (non-coding transcript variant +2 more) | Hereditary hemochromatosis | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Hereditary hemochromatosis | |
| | | Single nucleotide variant (non-coding transcript variant +2 more) | Hereditary hemochromatosis | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Hereditary hemochromatosis | |
| | | Single nucleotide variant (non-coding transcript variant +2 more) | Hereditary hemochromatosis | |
| | | Single nucleotide variant (intron variant +1 more) | Hereditary hemochromatosis | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Hereditary hemochromatosis | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Hereditary hemochromatosis | |
| | | Single nucleotide variant (non-coding transcript variant +2 more) | Inborn genetic diseases | |
| | HFE, HFE-AS1 (P73A +1 more) | Single nucleotide variant (non-coding transcript variant +2 more) | Inborn genetic diseases | |
| | HFE, HFE-AS1 (V45M +1 more) | Single nucleotide variant (non-coding transcript variant +2 more) | Hemochromatosis type 1 | |
| | | Single nucleotide variant (non-coding transcript variant +3 more) | not specified | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Hereditary hemochromatosis | |
| | | Single nucleotide variant (synonymous variant +2 more) | Hereditary hemochromatosis | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Hereditary hemochromatosis | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Hereditary hemochromatosis | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Hereditary hemochromatosis | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Hereditary hemochromatosis | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Hereditary hemochromatosis | |
| | | Single nucleotide variant (synonymous variant +1 more) | Hereditary hemochromatosis | |
| | | Single nucleotide variant (non-coding transcript variant +2 more) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Hereditary hemochromatosis +1 more | |
| | | Single nucleotide variant (synonymous variant +2 more) | Hereditary hemochromatosis | |
| | | Single nucleotide variant (non-coding transcript variant +2 more) | Hereditary hemochromatosis | |
| | | Single nucleotide variant (synonymous variant +2 more) | Hereditary hemochromatosis | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Hereditary hemochromatosis | |
| | | Single nucleotide variant (intron variant +1 more) | Hereditary hemochromatosis | |
| | | Single nucleotide variant (non-coding transcript variant +2 more) | Hereditary hemochromatosis | |
| | | Single nucleotide variant (non-coding transcript variant +2 more) | Hereditary hemochromatosis | |
| | HFE, HFE-AS1 (Y38C +1 more) | Single nucleotide variant (non-coding transcript variant +2 more) | Hereditary hemochromatosis | |
| | | Single nucleotide variant (non-coding transcript variant) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | HFE, HFE-AS1 (R44H +1 more) | Single nucleotide variant (non-coding transcript variant +2 more) | not provided | |
| | HFE, HFE-AS1 (R43C +1 more) | Single nucleotide variant (non-coding transcript variant +2 more) | Hemochromatosis type 1 +2 more | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant) | not provided | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided +1 more | |
| | HFE, HFE-AS1 (S65C +1 more) | Single nucleotide variant (non-coding transcript variant +2 more) | Hemochromatosis type 1 | |
| | | Single nucleotide variant (intron variant +2 more) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Hereditary hemochromatosis | |
| | | Single nucleotide variant (non-coding transcript variant +2 more) | Hereditary hemochromatosis | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Hereditary hemochromatosis | |
| | | Single nucleotide variant (non-coding transcript variant +2 more) | Hereditary hemochromatosis | |
| | | Single nucleotide variant (synonymous variant +1 more) | Hereditary hemochromatosis | |
| | | Single nucleotide variant (synonymous variant +2 more) | Hereditary hemochromatosis | |
| | | Single nucleotide variant (non-coding transcript variant +2 more) | Hereditary hemochromatosis | |
| | HFE, HFE-AS1 (R48* +1 more) | Single nucleotide variant (non-coding transcript variant +2 more) | Hereditary hemochromatosis +1 more | |
| | | Single nucleotide variant (non-coding transcript variant +2 more) | Hereditary hemochromatosis | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Hereditary hemochromatosis +2 more | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Hemochromatosis type 1 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (non-coding transcript variant) | Hemochromatosis type 1 | |
| | | Single nucleotide variant (non-coding transcript variant) | Hemochromatosis type 1 | |
| | | Single nucleotide variant (non-coding transcript variant +2 more) | Hereditary hemochromatosis | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Hereditary hemochromatosis | |
| | | Indel (non-coding transcript variant +2 more) | Hemochromatosis type 1 | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Hemochromatosis type 1 +1 more | |
| | HFE-AS1, HFE (R71Q +1 more) | Single nucleotide variant (non-coding transcript variant +2 more) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Hemochromatosis type 1 +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided +2 more | GConflicting classifications of pathogenicity |
| | HFE, HFE-AS1 (R67L +1 more) | Single nucleotide variant (non-coding transcript variant +2 more) | Hemochromatosis type 1 | |
| | | Single nucleotide variant (non-coding transcript variant +2 more) | Hemochromatosis type 1 +2 more | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Microvascular complications of diabetes, susceptibility to, 7 +7 more | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC129995913, LOC129995914 +1340 more | Copy number gain | See cases | |
| | HFE, HFE-AS1 (V59M +1 more) | Single nucleotide variant (non-coding transcript variant +2 more) | not specified +1 more | |
| | HFE, HFE-AS1 (V53M +1 more) | Single nucleotide variant (non-coding transcript variant +2 more) | Hemochromatosis type 1 | |
| | HFE, HFE-AS1 (S65C +1 more) | Single nucleotide variant (non-coding transcript variant +2 more) | Hemochromatosis type 1 +10 more | GConflicting classifications of pathogenicity |
| | HFE, HFE-AS1 (H63D +1 more) | Single nucleotide variant (non-coding transcript variant +2 more) | Hereditary hemochromatosis +9 more | GPathogenic/Likely pathogenic/Pathogenic, low penetrance; other |