HFE — 317 ClinVar variants
All ClinVar germline HFE variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 94 flagged for review →
23 Pathogenic · 9 Pathogenic/Likely pathogenic · 13 Likely pathogenic · 15 Conflicting · 8 Benign · 3 Benign/Likely benign · 128 Likely benign · 118 Uncertain significance
Full HFE gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 94
Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.
Predictors vs ClinVar 2
ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.
-
HFE p.Arg330Met
Pathogenic
No assertion criteria
hemochromatosis type 1
-
HFE p.Ser88Cys
Likely pathogenic
No assertion criteria
hemochromatosis type 1
Predictors agree, ClinVar conflicts 4
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
HFE p.Arg226Gln
Conflicting
Single submitter
Inborn genetic diseases
-
HFE p.Arg23His
Conflicting
Single submitter
hereditary hemochromatosis
-
HFE p.Thr17Ile
Conflicting
Single submitter
hemochromatosis type 1
-
HFE p.Val295Ala
Conflicting
Single submitter
hemochromatosis type 1
Predictors lean, ClinVar uncertain 65
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
HFE p.Arg226Trp
Uncertain significance
Multiple submitters
TRANSFERRIN SERUM LEVEL QUANTITATIVE TRAIT LOCUS 2
-
HFE p.Arg67His
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
HFE p.Arg6Ser
Uncertain significance
Multiple submitters
hemochromatosis type 1
-
HFE p.Arg71Gln
Uncertain significance
Multiple submitters
hemochromatosis type 1
-
HFE p.Asn130Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
HFE p.Glu133Lys
Uncertain significance
Multiple submitters
hereditary hemochromatosis
-
HFE p.Glu168Gln
Uncertain significance
Multiple submitters
hemochromatosis type 1
-
HFE p.Glu184Gln
Uncertain significance
Multiple submitters
hereditary hemochromatosis
-
HFE p.Gly334Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
HFE p.Gly337Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
HFE p.Leu14Val
Uncertain significance
Multiple submitters
hereditary hemochromatosis
-
HFE p.Lys243Glu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
HFE p.Pro7Arg
Uncertain significance
Multiple submitters
hereditary hemochromatosis
-
HFE p.Val256Ile
Uncertain significance
Multiple submitters
hereditary hemochromatosis
-
HFE p.Val59Met
Uncertain significance
Multiple submitters
hemochromatosis type 1
-
HFE p.Ala181Thr
Uncertain significance
Single submitter
hereditary hemochromatosis
-
HFE p.Ala18Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
HFE p.Ala227Pro
Uncertain significance
Single submitter
hereditary hemochromatosis
-
HFE p.Ala248Thr
Uncertain significance
Single submitter
hereditary hemochromatosis
-
HFE p.Ala37Val
Uncertain significance
Single submitter
Inborn genetic diseases
- HFE p.Ala49Ser Uncertain significance Single submitter
-
HFE p.Ala8Val
Uncertain significance
Single submitter
hereditary hemochromatosis
- HFE p.Arg175Gln Uncertain significance Single submitter
- HFE p.Arg23Leu Uncertain significance Single submitter
- HFE p.Arg347His Uncertain significance Single submitter
- HFE p.Arg67Leu Uncertain significance Single submitter
- HFE p.Arg6Thr Uncertain significance Single submitter
-
HFE p.Asp129Asn
Uncertain significance
Single submitter
hereditary hemochromatosis
-
HFE p.Asp242Asn
Uncertain significance
Single submitter
hereditary hemochromatosis
-
HFE p.Gln127His
Uncertain significance
Single submitter
hemochromatosis type 1
-
HFE p.Gln291Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
HFE p.Glu107Gly
Uncertain significance
Single submitter
Inborn genetic diseases
- HFE p.Glu252Gly Uncertain significance Single submitter
-
HFE p.Glu298Gln
Uncertain significance
Single submitter
hereditary hemochromatosis
- HFE p.Gly134Ala Uncertain significance Single submitter
-
HFE p.Ile105Val
Uncertain significance
Single submitter
hereditary hemochromatosis
-
HFE p.Ile307Thr
Uncertain significance
Single submitter
hereditary hemochromatosis
-
HFE p.Ile322Thr
Uncertain significance
Single submitter
hereditary hemochromatosis
-
HFE p.Leu25Arg
Uncertain significance
Single submitter
hereditary hemochromatosis
- HFE p.Leu344Ser Uncertain significance Single submitter
-
HFE p.Leu9Phe
Uncertain significance
Single submitter
Inborn genetic diseases
-
HFE p.Lys211Asn
Uncertain significance
Single submitter
Inborn genetic diseases
- HFE p.Met237Arg Uncertain significance Single submitter
-
HFE p.Phe251Leu
Uncertain significance
Single submitter
hereditary hemochromatosis
-
HFE p.Phe326Ile
Uncertain significance
Single submitter
hemochromatosis type 1
-
HFE p.Pro160Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
HFE p.Pro188Leu
Uncertain significance
Single submitter
hereditary hemochromatosis
- HFE p.Pro273Ser Uncertain significance Single submitter
- HFE p.Pro273Thr Uncertain significance Single submitter
-
HFE p.Pro292His
Uncertain significance
Single submitter
Inborn genetic diseases
-
HFE p.Pro299His
Uncertain significance
Single submitter
Inborn genetic diseases
- HFE p.Pro299Leu Uncertain significance Single submitter
-
HFE p.Pro299Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
HFE p.Pro73Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
HFE p.Ser115Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
HFE p.Thr236Ile
Uncertain significance
Single submitter
hemochromatosis type 1
-
HFE p.Thr281Met
Uncertain significance
Single submitter
hereditary hemochromatosis
- HFE p.Thr72Ser Uncertain significance Single submitter
-
HFE p.Thr99Ala
Uncertain significance
Single submitter
hereditary hemochromatosis
-
HFE p.Tyr61Cys
Uncertain significance
Single submitter
hereditary hemochromatosis
-
HFE p.Tyr61Phe
Uncertain significance
Single submitter
Inborn genetic diseases
- HFE p.Val272Ile Uncertain significance Single submitter
- HFE p.Val315Gly Uncertain significance Single submitter
-
HFE p.Val68Met
Uncertain significance
Single submitter
hemochromatosis type 1
- HFE p.Leu30Met Uncertain significance No assertion criteria
Predictors split 23
The independent predictors disagree with each other — read with care.
-
HFE p.Arg224Trp
Uncertain significance
Multiple submitters
hemochromatosis type 1
-
HFE p.Gln283Pro
Pathogenic/Likely pathogenic
Multiple submitters
hemochromatosis type 1
-
HFE p.Lys166Asn
Uncertain significance
Multiple submitters
hereditary hemochromatosis
-
HFE p.Lys166Glu
Uncertain significance
Multiple submitters
hereditary hemochromatosis
- HFE p.Pro208Ala Uncertain significance Multiple submitters
-
HFE p.Arg67Cys
Conflicting
Single submitter
hereditary hemochromatosis
- HFE p.Asp95His Uncertain significance Single submitter
-
HFE p.Glu277Lys
Conflicting
Single submitter
hereditary hemochromatosis
-
HFE p.Gly36Asp
Uncertain significance
Single submitter
hereditary hemochromatosis
-
HFE p.Gly93Arg
Uncertain significance
Single submitter
hemochromatosis type 1
-
HFE p.Gly93Val
Uncertain significance
Single submitter
hereditary hemochromatosis
-
HFE p.Ile105Ser
Uncertain significance
Single submitter
hereditary hemochromatosis
-
HFE p.Ile105Thr
Uncertain significance
Single submitter
hereditary hemochromatosis
-
HFE p.Met246Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- HFE p.Met35Ile Uncertain significance Single submitter
-
HFE p.Pro208Thr
Uncertain significance
Single submitter
hereditary hemochromatosis
-
HFE p.Ser65Cys
Conflicting
Single submitter
microvascular complications of diabetes, susceptibility to, 7
-
HFE p.Trp297Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
HFE p.Trp74Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- HFE p.Trp94Cys Uncertain significance Single submitter
-
HFE p.Tyr231Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
HFE p.Tyr32His
Uncertain significance
Single submitter
Inborn genetic diseases
- HFE p.Val272Leu Uncertain significance Single submitter
All HFE variants
Pathogenic 23
- c.616+1G>T Multiple submitters hemochromatosis type 1
- p.His341fs Multiple submitters hemochromatosis type 1
- c.1006+1G>T Single submitter hereditary hemochromatosis
- p.Arg161fs Single submitter hereditary hemochromatosis
- p.Asn259fs Single submitter hereditary hemochromatosis
- p.Asp255fs Single submitter hereditary hemochromatosis
- p.Gln190Ter Single submitter hereditary hemochromatosis
- p.Gln204Ter Single submitter hereditary hemochromatosis
- p.Gln278Ter Single submitter hereditary hemochromatosis
- p.Gln56Ter Single submitter hemochromatosis type 1
- p.Glu147fs Single submitter hereditary hemochromatosis
- p.Glu168Ter Single submitter hereditary hemochromatosis
- p.Leu209fs Single submitter hereditary hemochromatosis
- p.Lys238Ter Single submitter hereditary hemochromatosis
- p.Lys243delinsGluGlyTer Single submitter hereditary hemochromatosis
- p.Ser300Ter Single submitter hereditary hemochromatosis
- p.Thr222fs Single submitter hereditary hemochromatosis
- p.Trp136Ter Single submitter hereditary hemochromatosis
- p.Tyr138Ter Single submitter hereditary hemochromatosis
- p.Tyr182Ter Single submitter hereditary hemochromatosis
- p.Tyr231Ter Single submitter hereditary hemochromatosis
- p.Tyr280Ter Single submitter hereditary hemochromatosis
- p.Arg330Met No assertion criteria hemochromatosis type 1 ⚠
Pathogenic/Likely pathogenic 9
- c.1006+1G>A Multiple submitters Alzheimer disease type 1
- c.616+1G>A Multiple submitters hemochromatosis type 1
- p.Arg71Ter Multiple submitters hemochromatosis type 1
- p.Gln283Pro Multiple submitters hemochromatosis type 1 ⚠
- p.Glu298Ter Multiple submitters hereditary hemochromatosis
- p.Leu183fs Multiple submitters hereditary hemochromatosis
- p.Leu183Pro Multiple submitters hereditary hemochromatosis
- p.Lys254Ter Multiple submitters hemochromatosis type 1
- p.Trp94fs Multiple submitters hereditary hemochromatosis
Likely pathogenic 13
- c.76+2T>C Multiple submitters Alzheimer disease type 1
- c.340+1G>C Single submitter
- c.340+1G>T Single submitter hemochromatosis type 1
- c.341-1G>A Single submitter hereditary hemochromatosis
- c.76+2T>G Single submitter hereditary hemochromatosis
- c.77-2_78delinsTGGAGTC Single submitter hemochromatosis type 1
- c.892+1G>T Single submitter hereditary hemochromatosis
- c.893-1G>C Single submitter hereditary hemochromatosis
- p.Gln82Ter Single submitter HFE-related disorder
- p.Gly36fs Single submitter hemochromatosis type 1
- p.Tyr231del Single submitter hemochromatosis type 1
- c.340+1G>A No assertion criteria hemochromatosis type 1
- p.Ser88Cys No assertion criteria hemochromatosis type 1 ⚠
Conflicting classifications of pathogenicity 15
- c.1006+14A>G Single submitter hereditary hemochromatosis
- c.616+6G>A Single submitter hereditary hemochromatosis
- c.-7T>C Single submitter hereditary hemochromatosis
- c.*198C>T Single submitter microvascular complications of diabetes, susceptibility to, 7
- c.*988G>A Single submitter hemochromatosis type 1
- c.*991C>T Single submitter hemochromatosis type 1
- p.Arg226Gln Single submitter Inborn genetic diseases ⚠
- p.Arg23His Single submitter hereditary hemochromatosis ⚠
- p.Arg67Cys Single submitter hereditary hemochromatosis ⚠
- p.Glu277Lys Single submitter hereditary hemochromatosis ⚠
- p.Pro7= Single submitter hemochromatosis type 1
- p.Ser65Cys Single submitter microvascular complications of diabetes, susceptibility to, 7 ⚠
- p.Thr17Ile Single submitter hemochromatosis type 1 ⚠
- p.Tyr342= Single submitter hemochromatosis type 1
- p.Val295Ala Single submitter hemochromatosis type 1 ⚠
Benign 8
- c.1007-47G>A Multiple submitters hemochromatosis type 1
- c.892+16G>C Multiple submitters hereditary hemochromatosis
- c.617-296A>C Single submitter
- c.617-48C>G Single submitter
- c.76+112T>A Single submitter
- c.892+48G>A Single submitter
- c.893-44T>C Single submitter
- c.-48C>G Single submitter hemochromatosis type 1
Benign/Likely benign 3
- c.1006+19del Multiple submitters hereditary hemochromatosis
- c.340+4T>C Multiple submitters hemochromatosis type 1
- p.His63= Multiple submitters hemochromatosis type 1
Likely benign 128
- c.341-11G>A Multiple submitters hereditary hemochromatosis
- c.616+4T>C Multiple submitters
- c.76+12G>A Multiple submitters hereditary hemochromatosis
- c.893-50G>A Multiple submitters
- p.Ala158= Multiple submitters hereditary hemochromatosis
- p.Ala345= Multiple submitters hereditary hemochromatosis
- p.Asp144= Multiple submitters hereditary hemochromatosis
- p.Glu298= Multiple submitters hereditary hemochromatosis
- p.Leu257= Multiple submitters hereditary hemochromatosis
- p.Leu57= Multiple submitters hereditary hemochromatosis
- p.Phe251= Multiple submitters hereditary hemochromatosis
- p.Pro164= Multiple submitters hereditary hemochromatosis
- p.Pro301= Multiple submitters hereditary hemochromatosis
- p.Thr281= Multiple submitters hereditary hemochromatosis
- p.Tyr264= Multiple submitters hereditary hemochromatosis
- c.1006+17G>A Single submitter hereditary hemochromatosis
- c.1006+9del Single submitter hereditary hemochromatosis
- c.1006+9G>A Single submitter hereditary hemochromatosis
- c.1007-205del Single submitter
- c.1007-284T>C Single submitter
- c.1007-5C>T Single submitter hereditary hemochromatosis
- c.1007-8C>T Single submitter hereditary hemochromatosis
- c.340+11del Single submitter hereditary hemochromatosis
- c.340+12G>A Single submitter hereditary hemochromatosis
- c.340+19T>C Single submitter hereditary hemochromatosis
- c.340+8G>C Single submitter hereditary hemochromatosis
- c.341-17G>C Single submitter hereditary hemochromatosis
- c.341-4C>G Single submitter hereditary hemochromatosis
- c.616+13C>T Single submitter hereditary hemochromatosis
- c.616+15C>T Single submitter hereditary hemochromatosis
- c.616+18T>G Single submitter hereditary hemochromatosis
- c.616+9G>T Single submitter hereditary hemochromatosis
- c.617-11T>C Single submitter hereditary hemochromatosis
- c.76+11G>A Single submitter hereditary hemochromatosis
- c.76+13G>A Single submitter hereditary hemochromatosis
- c.76+15T>G Single submitter hereditary hemochromatosis
- c.76+17C>T Single submitter hereditary hemochromatosis
- c.76+20G>A Single submitter hereditary hemochromatosis
- c.76+20G>C Single submitter hereditary hemochromatosis
- c.76+8C>A Single submitter hereditary hemochromatosis
- c.76+8C>T Single submitter hereditary hemochromatosis
- c.76+9G>T Single submitter hereditary hemochromatosis
- c.77-10C>G Single submitter
- c.77-16_77-11dup Single submitter hereditary hemochromatosis
- c.77-5T>C Single submitter hereditary hemochromatosis
- c.892+18G>A Single submitter hereditary hemochromatosis
- c.892+57G>A Single submitter
- c.892+7G>A Single submitter hereditary hemochromatosis
- c.893-18T>C Single submitter hereditary hemochromatosis
- c.893-8T>C Single submitter hereditary hemochromatosis
- c.*170C>G Single submitter
- p.Ala162= Single submitter hereditary hemochromatosis
- p.Ala176= Single submitter hereditary hemochromatosis
- p.Ala18= Single submitter hereditary hemochromatosis
- p.Ala248= Single submitter hereditary hemochromatosis
- p.Ala8= Single submitter hereditary hemochromatosis
- p.Arg171= Single submitter hereditary hemochromatosis
- p.Arg175= Single submitter hereditary hemochromatosis
- p.Arg67= Single submitter hereditary hemochromatosis
- p.Asn179= Single submitter hereditary hemochromatosis
- p.Asp242= Single submitter hereditary hemochromatosis
- p.Asp255= Single submitter hereditary hemochromatosis
- p.Asp41= Single submitter hereditary hemochromatosis
- p.Asp55= Single submitter hereditary hemochromatosis
- p.Cys225= Single submitter hereditary hemochromatosis
- p.Gln193= Single submitter
- p.Gln233= Single submitter hereditary hemochromatosis
- p.Gln283= Single submitter hereditary hemochromatosis
- p.Glu168= Single submitter hereditary hemochromatosis
- p.Glu196= Single submitter hereditary hemochromatosis
- p.Glu64= Single submitter hereditary hemochromatosis
- p.Gly139= Single submitter hereditary hemochromatosis
- p.Gly2= Single submitter hereditary hemochromatosis
- p.Gly260= Single submitter hereditary hemochromatosis
- p.Gly266= Single submitter hereditary hemochromatosis
- p.Gly308= Single submitter hereditary hemochromatosis
- p.Gly334= Single submitter hereditary hemochromatosis
- p.Gly43= Single submitter hereditary hemochromatosis
- p.Gly93= Single submitter hereditary hemochromatosis
- p.His28= Single submitter hereditary hemochromatosis
- p.Ile121= Single submitter hereditary hemochromatosis
- p.Ile296Thr Single submitter Inborn genetic diseases
- p.Ile319= Single submitter hereditary hemochromatosis
- p.Leu118= Single submitter hereditary hemochromatosis
- p.Leu12= Single submitter hereditary hemochromatosis
- p.Leu15= Single submitter hereditary hemochromatosis
- p.Leu153= Single submitter hereditary hemochromatosis
- p.Leu191= Single submitter
- p.Leu194= Single submitter hereditary hemochromatosis
- p.Leu195= Single submitter hereditary hemochromatosis
- p.Leu202= Single submitter hereditary hemochromatosis
- p.Leu223= Single submitter hereditary hemochromatosis
- p.Leu240= Single submitter hereditary hemochromatosis
- p.Leu289= Single submitter hereditary hemochromatosis
- p.Leu30= Single submitter hereditary hemochromatosis
- p.Leu305= Single submitter hereditary hemochromatosis
- p.Leu33= Single submitter hereditary hemochromatosis
- p.Leu46= Single submitter hereditary hemochromatosis
- p.Leu50= Single submitter
- p.Leu9= Single submitter hereditary hemochromatosis
- p.Lys238= Single submitter hereditary hemochromatosis
- p.Lys249= Single submitter hereditary hemochromatosis
- p.Lys92= Single submitter hereditary hemochromatosis
- p.Phe326= Single submitter hereditary hemochromatosis
- p.Phe34= Single submitter
- p.Phe47= Single submitter hereditary hemochromatosis
- p.Phe58= Single submitter hereditary hemochromatosis
- p.Pro232= Single submitter hereditary hemochromatosis
- p.Pro253= Single submitter hereditary hemochromatosis
- p.Pro273= Single submitter hereditary hemochromatosis
- p.Pro287= Single submitter hereditary hemochromatosis
- p.Pro292= Single submitter hereditary hemochromatosis
- p.Ser115= Single submitter hereditary hemochromatosis
- p.Ser29= Single submitter hereditary hemochromatosis
- p.Ser76= Single submitter hereditary hemochromatosis
- p.Thr132= Single submitter hereditary hemochromatosis
- p.Thr17= Single submitter hereditary hemochromatosis
- p.Thr221= Single submitter hereditary hemochromatosis
- p.Thr236= Single submitter hereditary hemochromatosis
- p.Thr304= Single submitter hereditary hemochromatosis
- p.Tyr138= Single submitter hereditary hemochromatosis
- p.Tyr231= Single submitter hereditary hemochromatosis
- p.Tyr280= Single submitter hereditary hemochromatosis
- p.Tyr52= Single submitter hereditary hemochromatosis
- p.Val19= Single submitter hereditary hemochromatosis
- p.Val212= Single submitter hereditary hemochromatosis
- p.Val220= Single submitter hereditary hemochromatosis
- p.Val317= Single submitter hereditary hemochromatosis
Uncertain significance 118
- c.*199G>A Multiple submitters hemochromatosis type 1
- c.*296A>T Multiple submitters hemochromatosis type 1
- c.*403T>C Multiple submitters hemochromatosis type 1
- c.*459C>T Multiple submitters hemochromatosis type 1
- c.*578T>C Multiple submitters hemochromatosis type 1
- c.*603C>T Multiple submitters microvascular complications of diabetes, susceptibility to, 7
- c.*801T>C Multiple submitters hemochromatosis type 1
- c.*871C>T Multiple submitters hemochromatosis type 1
- p.Arg224Trp Multiple submitters hemochromatosis type 1 ⚠
- p.Arg226Trp Multiple submitters TRANSFERRIN SERUM LEVEL QUANTITATIVE TRAIT LOCUS 2 ⚠
- p.Arg66Cys Multiple submitters hemochromatosis type 1
- p.Arg67His Multiple submitters Inborn genetic diseases ⚠
- p.Arg6Ser Multiple submitters hemochromatosis type 1 ⚠
- p.Arg71Gln Multiple submitters hemochromatosis type 1 ⚠
- p.Asn130Ser Multiple submitters Inborn genetic diseases ⚠
- p.Glu133Lys Multiple submitters hereditary hemochromatosis ⚠
- p.Glu168Gln Multiple submitters hemochromatosis type 1 ⚠
- p.Glu184Gln Multiple submitters hereditary hemochromatosis ⚠
- p.Gly334Cys Multiple submitters Inborn genetic diseases ⚠
- p.Gly337Val Multiple submitters Inborn genetic diseases ⚠
- p.Leu14Val Multiple submitters hereditary hemochromatosis ⚠
- p.Lys166Asn Multiple submitters hereditary hemochromatosis ⚠
- p.Lys166Glu Multiple submitters hereditary hemochromatosis ⚠
- p.Lys243Glu Multiple submitters Inborn genetic diseases ⚠
- p.Met339fs Multiple submitters hereditary hemochromatosis
- p.Pro208Ala Multiple submitters ⚠
- p.Pro7Arg Multiple submitters hereditary hemochromatosis ⚠
- p.Val256Ile Multiple submitters hereditary hemochromatosis ⚠
- p.Val53Met Multiple submitters hemochromatosis type 1
- p.Val59Met Multiple submitters hemochromatosis type 1 ⚠
- c.341-12G>A Single submitter hereditary hemochromatosis
- c.617-8_617-4del Single submitter
- c.-4G>A Single submitter
- c.-96G>C Single submitter hemochromatosis type 1
- c.*120C>T Single submitter hemochromatosis type 1
- c.*155C>T Single submitter hemochromatosis type 1
- c.*281C>T Single submitter hemochromatosis type 1
- c.*301C>A Single submitter hemochromatosis type 1
- c.*417C>T Single submitter hemochromatosis type 1
- c.*426T>C Single submitter hemochromatosis type 1
- c.*517A>G Single submitter hemochromatosis type 1
- c.*61C>T Single submitter hemochromatosis type 1
- c.*625C>T Single submitter hemochromatosis type 1
- c.*744G>C Single submitter hemochromatosis type 1
- c.*746G>T Single submitter hemochromatosis type 1
- c.*838T>C Single submitter hemochromatosis type 1
- c.*918A>G Single submitter hemochromatosis type 1
- c.*957T>C Single submitter hemochromatosis type 1
- p.Ala181Thr Single submitter hereditary hemochromatosis ⚠
- p.Ala18Gly Single submitter Inborn genetic diseases ⚠
- p.Ala227Pro Single submitter hereditary hemochromatosis ⚠
- p.Ala248Thr Single submitter hereditary hemochromatosis ⚠
- p.Ala37Val Single submitter Inborn genetic diseases ⚠
- p.Ala49Ser Single submitter ⚠
- p.Ala8Val Single submitter hereditary hemochromatosis ⚠
- p.Arg175Gln Single submitter ⚠
- p.Arg180Met Single submitter Inborn genetic diseases
- p.Arg23Leu Single submitter ⚠
- p.Arg347His Single submitter ⚠
- p.Arg67Leu Single submitter ⚠
- p.Arg6Thr Single submitter ⚠
- p.Asp129Asn Single submitter hereditary hemochromatosis ⚠
- p.Asp242Asn Single submitter hereditary hemochromatosis ⚠
- p.Asp95His Single submitter ⚠
- p.Gln127His Single submitter hemochromatosis type 1 ⚠
- p.Gln205= Single submitter hereditary hemochromatosis
- p.Gln291Lys Single submitter Inborn genetic diseases ⚠
- p.Glu107Gly Single submitter Inborn genetic diseases ⚠
- p.Glu252Gly Single submitter ⚠
- p.Glu298Gln Single submitter hereditary hemochromatosis ⚠
- p.Gly134Ala Single submitter ⚠
- p.Gly323fs Single submitter hereditary hemochromatosis
- p.Gly36Asp Single submitter hereditary hemochromatosis ⚠
- p.Gly93Arg Single submitter hemochromatosis type 1 ⚠
- p.Gly93Val Single submitter hereditary hemochromatosis ⚠
- p.Ile105Ser Single submitter hereditary hemochromatosis ⚠
- p.Ile105Thr Single submitter hereditary hemochromatosis ⚠
- p.Ile105Val Single submitter hereditary hemochromatosis ⚠
- p.Ile307Thr Single submitter hereditary hemochromatosis ⚠
- p.Ile322Thr Single submitter hereditary hemochromatosis ⚠
- p.Leu25Arg Single submitter hereditary hemochromatosis ⚠
- p.Leu344Ser Single submitter ⚠
- p.Leu9Phe Single submitter Inborn genetic diseases ⚠
- p.Lys211Asn Single submitter Inborn genetic diseases ⚠
- p.Met237Arg Single submitter ⚠
- p.Met246Thr Single submitter Inborn genetic diseases ⚠
- p.Met35Ile Single submitter ⚠
- p.Phe251Leu Single submitter hereditary hemochromatosis ⚠
- p.Phe326Ile Single submitter hemochromatosis type 1 ⚠
- p.Pro160Arg Single submitter Inborn genetic diseases ⚠
- p.Pro188Leu Single submitter hereditary hemochromatosis ⚠
- p.Pro208Thr Single submitter hereditary hemochromatosis ⚠
- p.Pro273Ser Single submitter ⚠
- p.Pro273Thr Single submitter ⚠
- p.Pro292His Single submitter Inborn genetic diseases ⚠
- p.Pro299His Single submitter Inborn genetic diseases ⚠
- p.Pro299Leu Single submitter ⚠
- p.Pro299Thr Single submitter Inborn genetic diseases ⚠
- p.Pro73Ala Single submitter Inborn genetic diseases ⚠
- p.Ser115Cys Single submitter Inborn genetic diseases ⚠
- p.Ter349Arg Single submitter
- p.Thr236Ile Single submitter hemochromatosis type 1 ⚠
- p.Thr281Met Single submitter hereditary hemochromatosis ⚠
- p.Thr72Ser Single submitter ⚠
- p.Thr99Ala Single submitter hereditary hemochromatosis ⚠
- p.Trp297Cys Single submitter Inborn genetic diseases ⚠
- p.Trp74Ser Single submitter Inborn genetic diseases ⚠
- p.Trp94_Asp95delinsCysHis Single submitter
- p.Trp94Cys Single submitter ⚠
- p.Tyr231Cys Single submitter Inborn genetic diseases ⚠
- p.Tyr32His Single submitter Inborn genetic diseases ⚠
- p.Tyr61Cys Single submitter hereditary hemochromatosis ⚠
- p.Tyr61Phe Single submitter Inborn genetic diseases ⚠
- p.Val272Ile Single submitter ⚠
- p.Val272Leu Single submitter ⚠
- p.Val315Gly Single submitter ⚠
- p.Val68Met Single submitter hemochromatosis type 1 ⚠
- p.Leu30Met No assertion criteria ⚠