| | | Single nucleotide variant (missense variant) | Hemochromatosis type 1 | |
| | | Single nucleotide variant (splice donor variant +1 more) | Hemochromatosis type 1 | |
| | HFE, HFE-AS1 (V45M +1 more) | Single nucleotide variant (non-coding transcript variant +2 more) | Hemochromatosis type 1 | |
| | HFE, HFE-AS1 (R43C +1 more) | Single nucleotide variant (non-coding transcript variant +2 more) | Hemochromatosis type 1 +2 more | |
| | | Microsatellite (inframe_indel +2 more) | Hemochromatosis type 1 | |
| | | Single nucleotide variant (missense variant +1 more) | Hemochromatosis type 1 +2 more | |
| | HFE, HFE-AS1 (S65C +1 more) | Single nucleotide variant (non-coding transcript variant +2 more) | Hemochromatosis type 1 | |
| | | Single nucleotide variant (intron variant) | Hereditary hemochromatosis +2 more | |
| | HFE, HFE-AS1 (R48* +1 more) | Single nucleotide variant (non-coding transcript variant +2 more) | Hereditary hemochromatosis +1 more | |
| | | Deletion (frameshift variant +1 more) | Hereditary hemochromatosis +1 more | |
| | | Single nucleotide variant (splice donor variant) | Variegate porphyria +7 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (3 prime UTR variant) | Hemochromatosis type 1 | |
| | | Single nucleotide variant (missense variant +1 more) | Hereditary hemochromatosis +2 more | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Hereditary hemochromatosis +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Hemochromatosis type 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Hemochromatosis type 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Variegate porphyria +5 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 (3 prime UTR variant) | Hemochromatosis type 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Hemochromatosis type 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Hemochromatosis type 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Hemochromatosis type 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Hemochromatosis type 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Variegate porphyria +5 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Hemochromatosis type 1 | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Hemochromatosis type 1 | |
| | | Single nucleotide variant (intron variant) | Hemochromatosis type 1 +1 more | GConflicting classifications of pathogenicity |
| | LOC113687175, TFR2 (R530* +1 more) | Single nucleotide variant (nonsense) | Hemochromatosis type 1 +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Hemochromatosis type 4 +1 more | |
| | | Indel (non-coding transcript variant +2 more) | Hemochromatosis type 1 | |
| | | Single nucleotide variant (missense variant +1 more) | Hemochromatosis type 1 +5 more | |
| | | Single nucleotide variant (missense variant) | Hereditary hemochromatosis +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | Hemochromatosis type 1 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Variegate porphyria +6 more | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Hemochromatosis type 1 +1 more | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided +3 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant +1 more) | Microvascular complications of diabetes, susceptibility to, 7 +6 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense +1 more) | Hereditary hemochromatosis +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (3 prime UTR variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant) | Hemochromatosis type 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Hemochromatosis type 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Hemochromatosis type 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Hemochromatosis type 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Hemochromatosis type 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Hemochromatosis type 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Hemochromatosis type 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Hemochromatosis type 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Hemochromatosis type 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Hemochromatosis type 1 | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Hemochromatosis type 1 | |
| | | Single nucleotide variant (missense variant +1 more) | Hereditary hemochromatosis +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Hemochromatosis type 1 | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Hereditary hemochromatosis +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant +1 more) | Hemochromatosis type 1 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | not provided +7 more | |
| | 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) | Hemochromatosis type 1 +7 more | |
| | | Single nucleotide variant (nonsense +1 more) | Hemochromatosis type 1 | |
| | | Single nucleotide variant (intron variant) | not provided +3 more | |
| | | Single nucleotide variant (nonsense +1 more) | Hereditary hemochromatosis | |
| | | Single nucleotide variant (missense variant) | HAMP-related disorder +4 more | |
| | | Single nucleotide variant (nonsense) | Hemochromatosis type 2A +1 more | |
| | | Single nucleotide variant (missense variant) | Juvenile hemochromatosis +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Hemochromatosis type 1 +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Hemochromatosis type 1 | |
| | | Single nucleotide variant (missense variant +1 more) | Hemochromatosis type 1 | |
| | 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 | |
| | | Single nucleotide variant (missense variant +1 more) | Hemochromatosis type 1 | |
| | | Single nucleotide variant (missense variant +1 more) | Hereditary hemochromatosis | |
| | HFE, HFE-AS1 (S65C +1 more) | Single nucleotide variant (non-coding transcript variant +2 more) | Microvascular complications of diabetes, susceptibility to, 7 +10 more | GConflicting classifications of pathogenicity |
| | HFE, HFE-AS1 (H63D +1 more) | Single nucleotide variant (non-coding transcript variant +2 more) | Variegate porphyria +9 more | GPathogenic/Likely pathogenic/Pathogenic, low penetrance; other |
| | | Single nucleotide variant (missense variant +1 more) | Microvascular complications of diabetes, susceptibility to, 7 +19 more | GPathogenic/Pathogenic, low penetrance; other; risk factor |