NM_003227.4(TFR2):c.2014C>T (p.Gln672Ter)Pathogenic
Hemochromatosis type 3|Hereditary hemochromatosis|TFR2-related disorder
β
β
ββ2026β Residue 672
NM_003227.4(TFR2):c.2374G>A (p.Gly792Arg)Likely pathogenic
Hemochromatosis type 3|not provided|Hereditary hemochromatosis
β
β
ββ2026β Residue 792
NM_003227.4(TFR2):c.1849GCCGTGGCCCAG[1] (p.617AVAQ[1])Pathogenic
Hemochromatosis type 3|Hereditary hemochromatosis
β
β
ββ2026
NM_003227.4(TFR2):c.862C>T (p.Gln288Ter)Pathogenic
Hereditary hemochromatosis|Hemochromatosis type 3
β
β
ββ2025β Residue 288
NM_003227.4(TFR2):c.2095_2096del (p.Asp699fs)Pathogenic
Hereditary hemochromatosis|Hemochromatosis type 3
β
β
ββ2025β Residue 699
NM_003227.4(TFR2):c.2343G>A (p.Trp781Ter)Pathogenic
Hereditary hemochromatosis|Hemochromatosis type 3
β
β
ββ2025β Residue 781
NM_003227.4(TFR2):c.1398del (p.Arg468fs)Pathogenic
Hereditary hemochromatosis|Hemochromatosis type 3
β
β
ββ2025β Residue 468
NM_003227.4(TFR2):c.2092A>T (p.Arg698Ter)Pathogenic
Hereditary hemochromatosis|Hemochromatosis type 3
β
β
ββ2025β Residue 698
NM_003227.4(TFR2):c.1046C>G (p.Ser349Ter)Likely pathogenic
Hemochromatosis type 3
β
β
ββ2025β Residue 349
NM_003227.4(TFR2):c.2101C>T (p.Arg701Ter)Pathogenic
Hemochromatosis type 1|Hereditary hemochromatosis|Hemochromatosis type 3
β
β
ββ2025β Residue 701
NM_003227.4(TFR2):c.1186C>T (p.Arg396Ter)Pathogenic
Hemochromatosis type 3|Hereditary hemochromatosis
β
β
ββ2025β Residue 396
NM_003227.4(TFR2):c.661G>T (p.Gly221Ter)Pathogenic
Hereditary hemochromatosis|Hemochromatosis type 3
β
β
ββ2025β Residue 221
NM_003227.4(TFR2):c.286+1G>TLikely pathogenic
Hereditary hemochromatosis|Hemochromatosis type 3
β
β
ββ2025
NM_003227.4(TFR2):c.1467G>A (p.Trp489Ter)Pathogenic
Hemochromatosis type 3|Hereditary hemochromatosis
β
β
ββ2025β Residue 489
NM_003227.4(TFR2):c.124del (p.Glu42fs)Pathogenic
Hereditary hemochromatosis|Hemochromatosis type 3
β
β
ββ2025β Residue 42
NM_003227.4(TFR2):c.1606-2A>GPathogenic
Hereditary hemochromatosis|Hemochromatosis type 3
β
β
ββ2025
NM_003227.4(TFR2):c.515T>A (p.Met172Lys)Pathogenic
Hemochromatosis type 3|Hereditary hemochromatosis
β
β
ββ2025β Residue 172
NM_003227.4(TFR2):c.313C>T (p.Arg105Ter)Pathogenic
Hemochromatosis type 3|Hereditary hemochromatosis
β
β
ββ2025β Residue 105
NM_003227.4(TFR2):c.1606-8A>GLikely pathogenic
Hemochromatosis type 3
β
β
ββ2025
NM_003227.4(TFR2):c.34-2A>GLikely pathogenic
Hemochromatosis type 3|Hereditary hemochromatosis
β
β
ββ2025