TFR2 — 999 ClinVar variants

All ClinVar germline TFR2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 193 flagged for review →

47 Pathogenic · 21 Pathogenic/Likely pathogenic · 75 Likely pathogenic · 47 Conflicting · 16 Benign · 10 Benign/Likely benign · 569 Likely benign · 214 Uncertain significance

Full TFR2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 193

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 1

ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.

TFR2 p.Leu224Arg Pathogenic No assertion criteria
hemochromatosis type 3

Predictors agree, ClinVar conflicts 20

ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.

TFR2 p.Ala302Val Conflicting Single submitter
hereditary hemochromatosis
TFR2 p.Ala444Thr Conflicting Single submitter
hemochromatosis type 3
TFR2 p.Ala510Thr Conflicting Single submitter
hereditary hemochromatosis
TFR2 p.Ala75Val Conflicting Single submitter
hereditary hemochromatosis
TFR2 p.Arg30Gln Conflicting Single submitter
Inborn genetic diseases
TFR2 p.Arg366His Conflicting Single submitter
hereditary hemochromatosis
TFR2 p.Arg455Gln Conflicting Single submitter
hereditary hemochromatosis
TFR2 p.Arg468His Conflicting Single submitter
hereditary hemochromatosis
TFR2 p.Asn402Lys Conflicting Single submitter
hereditary hemochromatosis
TFR2 p.Asn412Ile Conflicting Single submitter
hemochromatosis type 3
TFR2 p.Asp127Glu Conflicting Single submitter
hereditary hemochromatosis
TFR2 p.Glu222Lys Conflicting Single submitter
Inborn genetic diseases
TFR2 p.Glu418Lys Conflicting Single submitter
Inborn genetic diseases
TFR2 p.Glu46Gln Conflicting Single submitter
Inborn genetic diseases
TFR2 p.Gly760Arg Conflicting Single submitter
hereditary hemochromatosis
TFR2 p.His212Gln Conflicting Single submitter
hereditary hemochromatosis
TFR2 p.Ile359Asn Conflicting Single submitter
hereditary hemochromatosis
TFR2 p.Ile797Val Conflicting Single submitter
hereditary hemochromatosis
TFR2 p.Pro225Leu Conflicting Single submitter
Inborn genetic diseases
TFR2 p.Val502Ile Conflicting Single submitter
hereditary hemochromatosis

Predictors lean, ClinVar uncertain 128

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.

TFR2 p.Ala45Val Uncertain significance Multiple submitters
Inborn genetic diseases
TFR2 p.Arg420His Uncertain significance Multiple submitters
hemochromatosis type 3
TFR2 p.Arg773Gln Uncertain significance Multiple submitters
Inborn genetic diseases
TFR2 p.Arg79Trp Uncertain significance Multiple submitters
Inborn genetic diseases
TFR2 p.Gly112Arg Uncertain significance Multiple submitters
hereditary hemochromatosis
TFR2 p.Gly373Asp Uncertain significance Multiple submitters
hemochromatosis type 3
TFR2 p.Gly415Ser Uncertain significance Multiple submitters
Inborn genetic diseases
TFR2 p.Leu175Val Uncertain significance Multiple submitters
Inborn genetic diseases
TFR2 p.Leu776Pro Uncertain significance Multiple submitters
Inborn genetic diseases
TFR2 p.Leu779Pro Uncertain significance Multiple submitters
hereditary hemochromatosis
TFR2 p.Met143Leu Uncertain significance Multiple submitters
Inborn genetic diseases
TFR2 p.Trp380Arg Uncertain significance Multiple submitters
Inborn genetic diseases
TFR2 p.Val22Ile Uncertain significance Multiple submitters
hemochromatosis type 3
TFR2 p.Val277Leu Uncertain significance Multiple submitters
hereditary hemochromatosis
TFR2 p.Val427Ile Uncertain significance Multiple submitters
Inborn genetic diseases
TFR2 p.Val484Met Uncertain significance Multiple submitters
Inborn genetic diseases
TFR2 p.Val496Met Uncertain significance Multiple submitters
hereditary hemochromatosis
TFR2 p.Ala103Thr Uncertain significance Single submitter
Inborn genetic diseases
TFR2 p.Ala11Val Uncertain significance Single submitter
Inborn genetic diseases
TFR2 p.Ala206Asp Uncertain significance Single submitter
hemochromatosis type 3
TFR2 p.Ala292Asp Uncertain significance Single submitter
TFR2 p.Ala617Thr Uncertain significance Single submitter
Inborn genetic diseases
TFR2 p.Ala621Asp Uncertain significance Single submitter
hereditary hemochromatosis
TFR2 p.Ala626Thr Uncertain significance Single submitter
hereditary hemochromatosis
TFR2 p.Arg105Gln Uncertain significance Single submitter
Inborn genetic diseases
TFR2 p.Arg10Thr Uncertain significance Single submitter
hereditary hemochromatosis
TFR2 p.Arg17Gly Uncertain significance Single submitter
hereditary hemochromatosis
TFR2 p.Arg185His Uncertain significance Single submitter
Inborn genetic diseases
TFR2 p.Arg25His Uncertain significance Single submitter
Inborn genetic diseases
TFR2 p.Arg260Leu Uncertain significance Single submitter
TFR2 p.Arg30Trp Uncertain significance Single submitter
Inborn genetic diseases
TFR2 p.Arg420Cys Uncertain significance Single submitter
Inborn genetic diseases
TFR2 p.Arg563Gln Uncertain significance Single submitter
Inborn genetic diseases
TFR2 p.Arg645His Uncertain significance Single submitter
Inborn genetic diseases
TFR2 p.Arg67Lys Uncertain significance Single submitter
Inborn genetic diseases
TFR2 p.Arg736Cys Uncertain significance Single submitter
Inborn genetic diseases
TFR2 p.Arg736His Uncertain significance Single submitter
Inborn genetic diseases
TFR2 p.Arg749Gln Uncertain significance Single submitter
hereditary hemochromatosis
TFR2 p.Arg774His Uncertain significance Single submitter
Inborn genetic diseases
TFR2 p.Asn402His Uncertain significance Single submitter
Inborn genetic diseases
TFR2 p.Asn540Ser Uncertain significance Single submitter
hereditary hemochromatosis
TFR2 p.Asn554Asp Uncertain significance Single submitter
Inborn genetic diseases
TFR2 p.Asn788Ser Uncertain significance Single submitter
Inborn genetic diseases
TFR2 p.Asn799Ser Uncertain significance Single submitter
Inborn genetic diseases
TFR2 p.Asn800Ser Uncertain significance Single submitter
Inborn genetic diseases
TFR2 p.Asp230Glu Uncertain significance Single submitter
hereditary hemochromatosis
TFR2 p.Asp307Val Uncertain significance Single submitter
Inborn genetic diseases
TFR2 p.Asp434Asn Uncertain significance Single submitter
hereditary hemochromatosis
TFR2 p.Asp591His Uncertain significance Single submitter
hereditary hemochromatosis
TFR2 p.Asp726Asn Uncertain significance Single submitter
TFR2 p.Gln132Lys Uncertain significance Single submitter
Inborn genetic diseases
TFR2 p.Glu150Lys Uncertain significance Single submitter
Inborn genetic diseases
TFR2 p.Glu35Asp Uncertain significance Single submitter
Inborn genetic diseases
TFR2 p.Glu42Lys Uncertain significance Single submitter
Inborn genetic diseases
TFR2 p.Glu530Gln Uncertain significance Single submitter
Inborn genetic diseases
TFR2 p.Glu55Val Uncertain significance Single submitter
Inborn genetic diseases
TFR2 p.Glu601Ala Uncertain significance Single submitter
Inborn genetic diseases
TFR2 p.Glu601Lys Uncertain significance Single submitter
TFR2 p.Gly168Val Uncertain significance Single submitter
TFR2 p.Gly251Arg Uncertain significance Single submitter
Inborn genetic diseases
TFR2 p.Gly268Asp Uncertain significance Single submitter
Inborn genetic diseases
TFR2 p.Gly28Val Uncertain significance Single submitter
Inborn genetic diseases
TFR2 p.Gly373Arg Uncertain significance Single submitter
hereditary hemochromatosis
TFR2 p.Gly386Arg Uncertain significance Single submitter
hereditary hemochromatosis
TFR2 p.Gly41Glu Uncertain significance Single submitter
Inborn genetic diseases
TFR2 p.Gly439Glu Uncertain significance Single submitter
hemochromatosis type 3
TFR2 p.Gly543Glu Uncertain significance Single submitter
Inborn genetic diseases
TFR2 p.Gly655Arg Uncertain significance Single submitter
Inborn genetic diseases
TFR2 p.Gly757Arg Uncertain significance Single submitter
hereditary hemochromatosis
TFR2 p.Gly757Glu Uncertain significance Single submitter
Inborn genetic diseases
TFR2 p.Gly78Val Uncertain significance Single submitter
hemochromatosis type 3
TFR2 p.His190Gln Uncertain significance Single submitter
hereditary hemochromatosis
TFR2 p.His33Gln Uncertain significance Single submitter
hereditary hemochromatosis
TFR2 p.His608Arg Uncertain significance Single submitter
Inborn genetic diseases
TFR2 p.Leu14Arg Uncertain significance Single submitter
Inborn genetic diseases
TFR2 p.Leu296Pro Uncertain significance Single submitter
hereditary hemochromatosis
TFR2 p.Leu313Pro Uncertain significance Single submitter
Inborn genetic diseases
TFR2 p.Leu397Pro Uncertain significance Single submitter
TFR2 p.Leu741Val Uncertain significance Single submitter
hereditary hemochromatosis
TFR2 p.Leu745Arg Uncertain significance Single submitter
hereditary hemochromatosis
TFR2 p.Leu750Val Uncertain significance Single submitter
hemochromatosis type 3
TFR2 p.Leu779Phe Uncertain significance Single submitter
Inborn genetic diseases
TFR2 p.Met460Lys Uncertain significance Single submitter
Inborn genetic diseases
TFR2 p.Met460Thr Uncertain significance Single submitter
Inborn genetic diseases
TFR2 p.Met588Thr Uncertain significance Single submitter
Inborn genetic diseases
TFR2 p.Phe304Val Uncertain significance Single submitter
Inborn genetic diseases
TFR2 p.Pro16Leu Uncertain significance Single submitter
Inborn genetic diseases
TFR2 p.Pro467Thr Uncertain significance Single submitter
Inborn genetic diseases
TFR2 p.Pro66Arg Uncertain significance Single submitter
Inborn genetic diseases
TFR2 p.Ser107Pro Uncertain significance Single submitter
TFR2 p.Ser305Phe Uncertain significance Single submitter
Inborn genetic diseases
TFR2 p.Ser365Phe Uncertain significance Single submitter
TFR2-related disorder
TFR2 p.Ser64Pro Uncertain significance Single submitter
hemochromatosis type 3
TFR2 p.Thr21Ser Uncertain significance Single submitter
TFR2 p.Thr47Ile Uncertain significance Single submitter
hemochromatosis type 3
TFR2 p.Thr603Ser Uncertain significance Single submitter
Inborn genetic diseases
TFR2 p.Thr740Met Uncertain significance Single submitter
hereditary hemochromatosis
TFR2 p.Trp5Arg Uncertain significance Single submitter
Inborn genetic diseases
TFR2 p.Tyr136Ser Uncertain significance Single submitter
hereditary hemochromatosis
TFR2 p.Val102Ile Uncertain significance Single submitter
Inborn genetic diseases
TFR2 p.Val191Leu Uncertain significance Single submitter
Inborn genetic diseases
TFR2 p.Val375Leu Uncertain significance Single submitter
Inborn genetic diseases
TFR2 p.Val401Ile Uncertain significance Single submitter
Inborn genetic diseases
TFR2 p.Val454Ala Uncertain significance Single submitter
Inborn genetic diseases
TFR2 p.Val505Met Uncertain significance Single submitter
hereditary hemochromatosis
TFR2 p.Val583Ile Uncertain significance Single submitter
hemochromatosis type 3
TFR2 p.Val622Met Uncertain significance Single submitter
Inborn genetic diseases
TFR2 p.Ala356Val Uncertain significance No assertion criteria
hemochromatosis type 3
TFR2 p.Arg25Leu Uncertain significance No assertion criteria
hemochromatosis type 3
TFR2 p.Arg645Cys Uncertain significance No assertion criteria
hemochromatosis type 3
TFR2 p.Arg730His Uncertain significance No assertion criteria
hemochromatosis type 3
TFR2 p.Arg771Gly Uncertain significance No assertion criteria
hemochromatosis type 3
TFR2 p.Asn411Thr Uncertain significance No assertion criteria
hemochromatosis type 3
TFR2 p.Glu530Gly Uncertain significance No assertion criteria
hemochromatosis type 3
TFR2 p.Glu60Gly Uncertain significance No assertion criteria
hemochromatosis type 3
TFR2 p.Glu659Gly Uncertain significance No assertion criteria
hemochromatosis type 3
TFR2 p.Gly263Asp Uncertain significance No assertion criteria
hemochromatosis type 3
TFR2 p.His608Asn Uncertain significance No assertion criteria
hemochromatosis type 3
TFR2 p.Leu135Val Uncertain significance No assertion criteria
TFR2-related disorder
TFR2 p.Leu528Ile Uncertain significance No assertion criteria
hemochromatosis type 3
TFR2 p.Leu71Phe Uncertain significance No assertion criteria
hemochromatosis type 3
TFR2 p.Phe304Ser Uncertain significance No assertion criteria
hemochromatosis type 3
TFR2 p.Pro564Thr Uncertain significance No assertion criteria
hemochromatosis type 3
TFR2 p.Pro59Ser Uncertain significance No assertion criteria
hemochromatosis type 3
TFR2 p.Pro724Leu Uncertain significance No assertion criteria
hemochromatosis type 3
TFR2 p.Pro759Leu Uncertain significance No assertion criteria
hemochromatosis type 3
TFR2 p.Ser763Pro Uncertain significance No assertion criteria
hemochromatosis type 3
TFR2 p.Thr88Met Uncertain significance No assertion criteria
TFR2-related disorder

Predictors split 44

The independent predictors disagree with each other — read with care.

TFR2 p.Ala364Thr Uncertain significance Multiple submitters
hereditary hemochromatosis
TFR2 p.Arg366Cys Uncertain significance Multiple submitters
hereditary hemochromatosis
TFR2 p.Arg398Gly Uncertain significance Multiple submitters
hereditary hemochromatosis
TFR2 p.Arg774Cys Uncertain significance Multiple submitters
hereditary hemochromatosis
TFR2 p.Gln186Pro Uncertain significance Multiple submitters
hemochromatosis type 3
TFR2 p.Gly792Arg Likely pathogenic Multiple submitters
TFR2-related disorder
TFR2 p.Met172Lys Pathogenic Multiple submitters
hereditary hemochromatosis
TFR2 p.Phe97Leu Uncertain significance Multiple submitters
Inborn genetic diseases
TFR2 p.Val191Ala Uncertain significance Multiple submitters
Inborn genetic diseases
TFR2 p.Ala376Asp Conflicting Single submitter
hereditary hemochromatosis
TFR2 p.Ala621Pro Uncertain significance Single submitter
hereditary hemochromatosis
TFR2 p.Arg398Trp Uncertain significance Single submitter
Inborn genetic diseases
TFR2 p.Arg466Trp Uncertain significance Single submitter
Inborn genetic diseases
TFR2 p.Arg468Cys Uncertain significance Single submitter
TFR2 p.Arg632Pro Uncertain significance Single submitter
Inborn genetic diseases
TFR2 p.Arg632Trp Uncertain significance Single submitter
hereditary hemochromatosis
TFR2 p.Arg749Trp Uncertain significance Single submitter
hereditary hemochromatosis
TFR2 p.Arg752Cys Uncertain significance Single submitter
hereditary hemochromatosis
TFR2 p.Arg771Cys Uncertain significance Single submitter
Inborn genetic diseases
TFR2 p.Asn799Lys Uncertain significance Single submitter
Inborn genetic diseases
TFR2 p.Cys111Ser Uncertain significance Single submitter
Inborn genetic diseases
TFR2 p.Cys416Arg Uncertain significance Single submitter
hereditary hemochromatosis
TFR2 p.Glu222Val Uncertain significance Single submitter
hereditary hemochromatosis
TFR2 p.Gly218Arg Uncertain significance Single submitter
Inborn genetic diseases
TFR2 p.Gly394Arg Uncertain significance Single submitter
Inborn genetic diseases
TFR2 p.Gly647Arg Uncertain significance Single submitter
hereditary hemochromatosis
TFR2 p.Gly95Arg Uncertain significance Single submitter
hereditary hemochromatosis
TFR2 p.Leu633Phe Uncertain significance Single submitter
Inborn genetic diseases
TFR2 p.Leu664Phe Uncertain significance Single submitter
hereditary hemochromatosis
TFR2 p.Lys520Asn Uncertain significance Single submitter
Inborn genetic diseases
TFR2 p.Phe280Leu Conflicting Single submitter
hereditary hemochromatosis
TFR2 p.Pro377Ser Uncertain significance Single submitter
hereditary hemochromatosis
TFR2 p.Ser506Gly Uncertain significance Single submitter
hereditary hemochromatosis
TFR2 p.Thr782Ala Uncertain significance Single submitter
Inborn genetic diseases
TFR2 p.Trp137Cys Uncertain significance Single submitter
Inborn genetic diseases
TFR2 p.Gln201Arg Uncertain significance No assertion criteria
hemochromatosis type 3
TFR2 p.Glu39Lys Uncertain significance No assertion criteria
hemochromatosis type 3
TFR2 p.Glu584Lys Uncertain significance No assertion criteria
hemochromatosis type 3
TFR2 p.Gly239Asp Uncertain significance No assertion criteria
hemochromatosis type 3
TFR2 p.Gly382Glu Uncertain significance No assertion criteria
hemochromatosis type 3
TFR2 p.Phe585Leu Uncertain significance No assertion criteria
hemochromatosis type 3
TFR2 p.Phe660Leu Uncertain significance No assertion criteria
hemochromatosis type 3
TFR2 p.Ser763Phe Uncertain significance No assertion criteria
hemochromatosis type 3
TFR2 p.Thr408Ile Uncertain significance No assertion criteria
hemochromatosis type 3

All TFR2 variants

Pathogenic 47

c.1606-2A>G Multiple submitters hereditary hemochromatosis
p.Arg30fs Multiple submitters hereditary hemochromatosis
p.Arg396Ter Multiple submitters hemochromatosis type 3
p.Gln624Ter Multiple submitters hereditary hemochromatosis
p.Met172Lys Multiple submitters hereditary hemochromatosis ⚠
c.1538-2A>G Single submitter hemochromatosis type 3
c.1768-1G>A Single submitter hemochromatosis type 3
p.Ala761fs Single submitter hereditary hemochromatosis
p.Arg252fs Single submitter hereditary hemochromatosis
p.Arg25fs Single submitter hereditary hemochromatosis
p.Arg455fs Single submitter hereditary hemochromatosis
p.Arg65fs Single submitter hereditary hemochromatosis
p.Asn402fs Single submitter hereditary hemochromatosis
p.Asp230fs Single submitter hereditary hemochromatosis
p.Asp648fs Single submitter hereditary hemochromatosis
p.Gln177Ter Single submitter hereditary hemochromatosis
p.Gln378fs Single submitter hereditary hemochromatosis
p.Gly430Arg Single submitter hereditary hemochromatosis
p.Gly430fs Single submitter hereditary hemochromatosis
p.Gly6fs Single submitter hereditary hemochromatosis
p.His249_Tyr250insTer Single submitter hereditary hemochromatosis
p.His249fs Single submitter hereditary hemochromatosis
p.Leu135fs Single submitter hereditary hemochromatosis
p.Leu162fs Single submitter hereditary hemochromatosis
p.Leu546_Tyr547insTer Single submitter hereditary hemochromatosis
p.Leu615fs Single submitter hereditary hemochromatosis
p.Leu62fs Single submitter hereditary hemochromatosis
p.Leu7fs Single submitter hereditary hemochromatosis
p.Leu85fs Single submitter hereditary hemochromatosis
p.Lys372fs Single submitter hereditary hemochromatosis
p.Phe290fs Single submitter hereditary hemochromatosis
p.Pro16fs Single submitter hereditary hemochromatosis
p.Pro395fs Single submitter hereditary hemochromatosis
p.Ser107fs Single submitter hereditary hemochromatosis
p.Trp213Ter Single submitter hereditary hemochromatosis
p.Trp489_Leu490delinsTer Single submitter hereditary hemochromatosis
p.Tyr320Ter Single submitter hereditary hemochromatosis
p.Tyr331fs Single submitter hereditary hemochromatosis
p.Tyr604Ter Single submitter hereditary hemochromatosis
p.Tyr646Ter Single submitter hereditary hemochromatosis
p.Tyr84Ter Single submitter hereditary hemochromatosis
p.Val22fs Single submitter hereditary hemochromatosis
p.Val277fs Single submitter hereditary hemochromatosis
p.Val583fs Single submitter hereditary hemochromatosis
c.1540delG No assertion criteria hemochromatosis type 3
p.Leu224Arg No assertion criteria hemochromatosis type 3 ⚠
p.Tyr250Ter No assertion criteria hemochromatosis type 3

Pathogenic/Likely pathogenic 21

c.33+1del Multiple submitters hemochromatosis type 3
p.617AVAQ[1] Multiple submitters hereditary hemochromatosis
p.Ala743fs Multiple submitters hemochromatosis type 3
p.Arg105Ter Multiple submitters hemochromatosis type 3
p.Arg468fs Multiple submitters hereditary hemochromatosis
p.Asp746fs Multiple submitters hereditary hemochromatosis
p.Gln12Ter Multiple submitters hemochromatosis type 3
p.Gln20Ter Multiple submitters hemochromatosis type 3
p.Gln288Ter Multiple submitters hereditary hemochromatosis
p.Gln357fs Multiple submitters hereditary hemochromatosis
p.Gln544fs Multiple submitters hereditary hemochromatosis
p.Glu42fs Multiple submitters hereditary hemochromatosis
p.Glu491fs Multiple submitters hereditary hemochromatosis
p.Gly221Ter Multiple submitters hereditary hemochromatosis
p.Leu175fs Multiple submitters hemochromatosis type 3
p.Phe729fs Multiple submitters hemochromatosis type 3
p.Pro388fs Multiple submitters hereditary hemochromatosis
p.Ser470Ile Multiple submitters hereditary hemochromatosis
p.Trp489Ter Multiple submitters hereditary hemochromatosis
p.Trp781Ter Multiple submitters hereditary hemochromatosis
p.Tyr136fs Multiple submitters hereditary hemochromatosis

Likely pathogenic 75

c.1473+1G>A Multiple submitters hemochromatosis type 3
c.1474-1G>A Multiple submitters hemochromatosis type 3
c.1606-8A>G Multiple submitters hemochromatosis type 3
c.1767+1G>T Multiple submitters hemochromatosis type 3
c.286+1G>T Multiple submitters hemochromatosis type 3
c.286+2T>C Multiple submitters hemochromatosis type 3
c.287-2A>G Multiple submitters hemochromatosis type 3
c.34-2A>C Multiple submitters hemochromatosis type 3
c.34-2A>G Multiple submitters hereditary hemochromatosis
p.Gln13Ter Multiple submitters hemochromatosis type 3
p.Glu150fs Multiple submitters hemochromatosis type 3
p.Gly792Arg Multiple submitters TFR2-related disorder ⚠
p.Lys219fs Multiple submitters hemochromatosis type 3
p.Ser349Ter Multiple submitters hemochromatosis type 3
c.1106+1G>A Single submitter hereditary hemochromatosis
c.1106+2T>G Single submitter hereditary hemochromatosis
c.1270+1G>C Single submitter hereditary hemochromatosis
c.1271-1G>A Single submitter hemochromatosis type 3
c.1390+1G>C Single submitter hemochromatosis type 3
c.1390+2dup Single submitter hemochromatosis type 3
c.1391-1G>A Single submitter hereditary hemochromatosis
c.1391-9_1395del Single submitter hemochromatosis type 3
c.1538-1G>A Single submitter hereditary hemochromatosis
c.1605+1G>A Single submitter hemochromatosis type 3
c.1682+1G>A Single submitter hereditary hemochromatosis
c.1682+1G>C Single submitter hereditary hemochromatosis
c.1682+1G>T Single submitter hemochromatosis type 3
c.1995+1G>T Single submitter hemochromatosis type 3
c.1995+2T>A Single submitter hemochromatosis type 3
c.279_286+2delinsG Single submitter hemochromatosis type 3
c.286+1del Single submitter hemochromatosis type 3
c.286+1G>A Single submitter hemochromatosis type 3
c.287-2A>T Single submitter hereditary hemochromatosis
c.458_473+6del Single submitter hereditary hemochromatosis
c.474-1G>A Single submitter hereditary hemochromatosis
c.614+1G>C Single submitter hereditary hemochromatosis
c.727-2A>G Single submitter hereditary hemochromatosis
c.849+1G>T Single submitter hereditary hemochromatosis
c.849+2T>C Single submitter hereditary hemochromatosis
c.966+1G>C Single submitter hereditary hemochromatosis
c.966+2_966+3del Single submitter hereditary hemochromatosis
p.Ala110fs Single submitter hemochromatosis type 3
p.Arg134Ter Single submitter hemochromatosis type 3
p.Arg730Cys Single submitter TFR2-related disorder
p.Arg773fs Single submitter hemochromatosis type 3
p.Asn412del Single submitter hemochromatosis type 3
p.Gln357Ter Single submitter hemochromatosis type 3
p.Gln378Ter Single submitter hemochromatosis type 3
p.Gln628fs Single submitter hemochromatosis type 3
p.Gln720Ter Single submitter hemochromatosis type 3
p.Gln784Ter Single submitter hemochromatosis type 3
p.Gly243Ter Single submitter hemochromatosis type 3
p.Gly294Ter Single submitter hemochromatosis type 3
p.Gly760fs Single submitter hemochromatosis type 3
p.His598fs Single submitter hemochromatosis type 3
p.Leu116fs Single submitter hemochromatosis type 3
p.Leu270fs Single submitter hemochromatosis type 3
p.Leu4fs Single submitter hemochromatosis type 3
p.Leu641fs Single submitter hemochromatosis type 3
p.Leu99fs Single submitter hemochromatosis type 3
p.Phe473fs Single submitter hemochromatosis type 3
p.Phe93fs Single submitter hemochromatosis type 3
p.Pro355fs Single submitter hemochromatosis type 3
p.Ser138fs Single submitter hemochromatosis type 3
p.Ser719fs Single submitter hemochromatosis type 3
p.Ser723Ter Single submitter hemochromatosis type 3
p.Thr195fs Single submitter hemochromatosis type 3
p.Trp137Ter Single submitter hemochromatosis type 3
p.Trp436Ter Single submitter hemochromatosis type 3
p.Trp74fs Single submitter hemochromatosis type 3
p.Tyr197Ter Single submitter hemochromatosis type 3
p.Tyr23fs Single submitter hemochromatosis type 3
p.Tyr247Ter Single submitter hemochromatosis type 3
p.Tyr721fs Single submitter hereditary hemochromatosis
p.Val550fs Single submitter hemochromatosis type 3

Conflicting classifications of pathogenicity 47

c.1473+13C>G Single submitter hereditary hemochromatosis
c.1682+11G>C Single submitter hereditary hemochromatosis
c.1682+9G>T Single submitter hereditary hemochromatosis
c.1683-4C>T Single submitter hemochromatosis type 3
c.1995+9G>C Single submitter hemochromatosis type 3
c.2137-1G>A Single submitter hemochromatosis type 3
c.286+15C>T Single submitter hereditary hemochromatosis
c.473+8T>A Single submitter hereditary hemochromatosis
c.615-12C>T Single submitter hereditary hemochromatosis
c.726+9C>T Single submitter hereditary hemochromatosis
c.727-9T>A Single submitter hereditary hemochromatosis
p.Ala302= Single submitter hemochromatosis type 3
p.Ala302Val Single submitter hereditary hemochromatosis ⚠
p.Ala376Asp Single submitter hereditary hemochromatosis ⚠
p.Ala444Thr Single submitter hemochromatosis type 3 ⚠
p.Ala510Thr Single submitter hereditary hemochromatosis ⚠
p.Ala621= Single submitter hemochromatosis type 3
p.Ala725= Single submitter Inborn genetic diseases
p.Ala75Val Single submitter hereditary hemochromatosis ⚠
p.Ala789= Single submitter hemochromatosis type 3
p.Arg30Gln Single submitter Inborn genetic diseases ⚠
p.Arg366His Single submitter hereditary hemochromatosis ⚠
p.Arg455Gln Single submitter hereditary hemochromatosis ⚠
p.Arg468His Single submitter hereditary hemochromatosis ⚠
p.Arg652= Single submitter hereditary hemochromatosis
p.Asn402Lys Single submitter hereditary hemochromatosis ⚠
p.Asn412Ile Single submitter hemochromatosis type 3 ⚠
p.Asn540= Single submitter hereditary hemochromatosis
p.Asn658= Single submitter hereditary hemochromatosis
p.Asp127Glu Single submitter hereditary hemochromatosis ⚠
p.Glu222Lys Single submitter Inborn genetic diseases ⚠
p.Glu418Lys Single submitter Inborn genetic diseases ⚠
p.Glu46Gln Single submitter Inborn genetic diseases ⚠
p.Glu491= Single submitter hereditary hemochromatosis
p.Gly760Arg Single submitter hereditary hemochromatosis ⚠
p.His212Gln Single submitter hereditary hemochromatosis ⚠
p.Ile359Asn Single submitter hereditary hemochromatosis ⚠
p.Ile797Val Single submitter hereditary hemochromatosis ⚠
p.Leu525= Single submitter hereditary hemochromatosis
p.Leu625= Single submitter hereditary hemochromatosis
p.Phe280Leu Single submitter hereditary hemochromatosis ⚠
p.Pro225Leu Single submitter Inborn genetic diseases ⚠
p.Pro640= Single submitter hemochromatosis type 3
p.Pro724= Single submitter hereditary hemochromatosis
p.Ser443= Single submitter hereditary hemochromatosis
p.Tyr101= Single submitter hereditary hemochromatosis
p.Val502Ile Single submitter hereditary hemochromatosis ⚠

Benign 16

c.1271-193T>G Multiple submitters
c.1390+211G>A Multiple submitters
c.1391-13C>A Multiple submitters hereditary hemochromatosis
c.1682+9G>C Multiple submitters hereditary hemochromatosis
c.1767+7C>T Multiple submitters hemochromatosis type 3
c.-39C>T Multiple submitters hemochromatosis type 3
p.Ala45= Multiple submitters hereditary hemochromatosis
p.Asp590= Multiple submitters hereditary hemochromatosis
c.1107-255_1107-254del Single submitter
c.1391-200G>A Single submitter
c.1682+13_1682+14dup Single submitter hereditary hemochromatosis
c.1682+13G>C Single submitter hereditary hemochromatosis
c.1682+14del Single submitter hereditary hemochromatosis
c.1682+14dup Single submitter hereditary hemochromatosis
c.473+12C>T Single submitter hereditary hemochromatosis
p.Leu256Arg Single submitter hereditary hemochromatosis

Benign/Likely benign 10

c.1270+16A>G Multiple submitters hereditary hemochromatosis
c.1473+16G>A Multiple submitters hereditary hemochromatosis
c.2137-5C>T Multiple submitters hemochromatosis type 3
c.849+6T>A Multiple submitters hemochromatosis type 3
p.Ala617= Multiple submitters hereditary hemochromatosis
p.Arg752His Multiple submitters hereditary hemochromatosis
p.Gly149= Multiple submitters hereditary hemochromatosis
p.Gly647= Multiple submitters hemochromatosis type 3
p.Ile238Met Multiple submitters hereditary hemochromatosis
p.Ser483= Multiple submitters hereditary hemochromatosis

Likely benign 569

Showing the top 300 by review status; the full set is in the sitemap.

c.1537+8G>T Multiple submitters hereditary hemochromatosis
c.1538-16C>T Multiple submitters hereditary hemochromatosis
c.1683-13C>T Multiple submitters hereditary hemochromatosis
c.287-5G>A Multiple submitters hereditary hemochromatosis
c.474-6G>T Multiple submitters hereditary hemochromatosis
p.Asp40= Multiple submitters Inborn genetic diseases
p.Asp648= Multiple submitters hereditary hemochromatosis
p.Gln628= Multiple submitters hereditary hemochromatosis
p.Gly742= Multiple submitters hereditary hemochromatosis
p.Ile417Val Multiple submitters hereditary hemochromatosis
p.Met588Leu Multiple submitters Inborn genetic diseases
p.Pro59= Multiple submitters hereditary hemochromatosis
p.Ser753= Multiple submitters hereditary hemochromatosis
p.Tyr604= Multiple submitters hereditary hemochromatosis
c.1106+12G>A Single submitter hereditary hemochromatosis
c.1106+13T>C Single submitter hereditary hemochromatosis
c.1106+15G>A Single submitter hereditary hemochromatosis
c.1106+18G>T Single submitter hereditary hemochromatosis
c.1106+20C>T Single submitter hereditary hemochromatosis
c.1106+7G>C Single submitter hereditary hemochromatosis
c.1107-11C>G Single submitter hereditary hemochromatosis
c.1107-15C>T Single submitter hereditary hemochromatosis
c.1107-19C>T Single submitter hereditary hemochromatosis
c.1107-20del Single submitter hereditary hemochromatosis
c.1107-20dup Single submitter hereditary hemochromatosis
c.1107-4C>A Single submitter hereditary hemochromatosis
c.1107-4C>G Single submitter hereditary hemochromatosis
c.1107-4C>T Single submitter hereditary hemochromatosis
c.1107-8C>G Single submitter hereditary hemochromatosis
c.1270+10G>A Single submitter hereditary hemochromatosis
c.1270+11T>G Single submitter hereditary hemochromatosis
c.1270+12G>A Single submitter hereditary hemochromatosis
c.1270+15C>T Single submitter hereditary hemochromatosis
c.1270+16A>T Single submitter hereditary hemochromatosis
c.1270+7T>A Single submitter hereditary hemochromatosis
c.1270+9T>C Single submitter hereditary hemochromatosis
c.1271-18_1271-17del Single submitter hereditary hemochromatosis
c.1271-4C>G Single submitter hereditary hemochromatosis
c.1271-6C>T Single submitter hereditary hemochromatosis
c.1271-8C>T Single submitter hereditary hemochromatosis
c.1390+10G>A Single submitter hereditary hemochromatosis
c.1390+19C>T Single submitter hereditary hemochromatosis
c.1391-11T>C Single submitter hereditary hemochromatosis
c.1391-12C>T Single submitter hereditary hemochromatosis
c.1391-13C>G Single submitter hereditary hemochromatosis
c.1391-14C>T Single submitter hereditary hemochromatosis
c.1391-4C>A Single submitter hereditary hemochromatosis
c.1391-5C>T Single submitter hereditary hemochromatosis
c.1391-6C>T Single submitter hereditary hemochromatosis
c.1473+10G>A Single submitter hereditary hemochromatosis
c.1473+10G>T Single submitter hereditary hemochromatosis
c.1473+11del Single submitter hereditary hemochromatosis
c.1473+11G>A Single submitter hereditary hemochromatosis
c.1473+12T>C Single submitter hereditary hemochromatosis
c.1473+14C>A Single submitter hereditary hemochromatosis
c.1473+15C>T Single submitter hereditary hemochromatosis
c.1473+7C>G Single submitter hereditary hemochromatosis
c.1473+7C>T Single submitter hereditary hemochromatosis
c.1473+8G>A Single submitter hereditary hemochromatosis
c.1474-10C>T Single submitter hereditary hemochromatosis
c.1474-11C>T Single submitter hereditary hemochromatosis
c.1474-18C>T Single submitter hereditary hemochromatosis
c.1474-8A>G Single submitter hereditary hemochromatosis
c.1474-9C>T Single submitter hereditary hemochromatosis
c.1537+11G>A Single submitter hereditary hemochromatosis
c.1537+12C>G Single submitter hereditary hemochromatosis
c.1537+14G>T Single submitter hereditary hemochromatosis
c.1537+16G>A Single submitter hereditary hemochromatosis
c.1537+18C>T Single submitter hereditary hemochromatosis
c.1537+7T>C Single submitter hereditary hemochromatosis
c.1538-10C>T Single submitter hereditary hemochromatosis
c.1538-11C>G Single submitter hereditary hemochromatosis
c.1538-11C>T Single submitter hereditary hemochromatosis
c.1538-12C>A Single submitter hereditary hemochromatosis
c.1538-13_1538-9del Single submitter hereditary hemochromatosis
c.1538-15C>T Single submitter hereditary hemochromatosis
c.1538-18C>T Single submitter hereditary hemochromatosis
c.1538-18CCCCT[3] Single submitter hereditary hemochromatosis
c.1538-19T>C Single submitter hereditary hemochromatosis
c.1538-4C>T Single submitter hereditary hemochromatosis
c.1538-5T>A Single submitter hereditary hemochromatosis
c.1538-5T>C Single submitter hereditary hemochromatosis
c.1538-6T>C Single submitter hereditary hemochromatosis
c.1538-8T>A Single submitter hereditary hemochromatosis
c.1605+10C>G Single submitter hereditary hemochromatosis
c.1605+10C>T Single submitter hereditary hemochromatosis
c.1605+12C>T Single submitter hereditary hemochromatosis
c.1605+19T>C Single submitter hereditary hemochromatosis
c.1605+19T>G Single submitter hereditary hemochromatosis
c.1605+7G>A Single submitter hereditary hemochromatosis
c.1605+9A>G Single submitter hereditary hemochromatosis
c.1606-13C>T Single submitter hereditary hemochromatosis
c.1606-15T>C Single submitter hereditary hemochromatosis
c.1606-20T>G Single submitter hereditary hemochromatosis
c.1606-4C>T Single submitter hereditary hemochromatosis
c.1606-5C>A Single submitter hereditary hemochromatosis
c.1606-5C>T Single submitter hereditary hemochromatosis
c.1606-6C>T Single submitter hereditary hemochromatosis
c.1606-8A>T Single submitter hereditary hemochromatosis
c.1682+10G>A Single submitter hereditary hemochromatosis
c.1682+10G>C Single submitter hereditary hemochromatosis
c.1682+11G>A Single submitter hereditary hemochromatosis
c.1682+11G>T Single submitter hereditary hemochromatosis
c.1682+12G>T Single submitter hereditary hemochromatosis
c.1682+13G>A Single submitter hereditary hemochromatosis
c.1682+14G>A Single submitter hereditary hemochromatosis
c.1682+18G>A Single submitter hereditary hemochromatosis
c.1682+20A>G Single submitter hereditary hemochromatosis
c.1682+8G>A Single submitter hereditary hemochromatosis
c.1682+8G>C Single submitter hereditary hemochromatosis
c.1682+8G>T Single submitter hereditary hemochromatosis
c.1682+9G>A Single submitter hereditary hemochromatosis
c.1683-11C>A Single submitter hereditary hemochromatosis
c.1683-11C>T Single submitter hereditary hemochromatosis
c.1683-12A>C Single submitter hereditary hemochromatosis
c.1683-15C>T Single submitter hereditary hemochromatosis
c.1683-17A>C Single submitter hereditary hemochromatosis
c.1683-19C>G Single submitter hereditary hemochromatosis
c.1683-7C>T Single submitter hereditary hemochromatosis
c.1767+13C>T Single submitter hereditary hemochromatosis
c.1767+16C>T Single submitter hereditary hemochromatosis
c.1767+19G>A Single submitter hereditary hemochromatosis
c.1767+20C>G Single submitter hereditary hemochromatosis
c.1767+7C>G Single submitter hereditary hemochromatosis
c.1767+8G>A Single submitter hereditary hemochromatosis
c.1768-10G>A Single submitter hereditary hemochromatosis
c.1768-10G>C Single submitter hereditary hemochromatosis
c.1768-14C>A Single submitter hereditary hemochromatosis
c.1768-15A>G Single submitter hereditary hemochromatosis
c.1768-19G>A Single submitter hereditary hemochromatosis
c.1768-20C>T Single submitter hereditary hemochromatosis
c.1768-4G>A Single submitter hereditary hemochromatosis
c.1768-6T>C Single submitter hereditary hemochromatosis
c.1768-8C>T Single submitter hereditary hemochromatosis
c.1995+10G>A Single submitter hereditary hemochromatosis
c.1995+12C>G Single submitter hereditary hemochromatosis
c.1995+13C>A Single submitter hereditary hemochromatosis
c.1995+13C>T Single submitter hereditary hemochromatosis
c.1995+15C>T Single submitter hereditary hemochromatosis
c.1995+18C>A Single submitter hereditary hemochromatosis
c.1995+18C>T Single submitter hereditary hemochromatosis
c.1995+19G>A Single submitter hereditary hemochromatosis
c.1995+20C>G Single submitter hereditary hemochromatosis
c.1995+20C>T Single submitter hereditary hemochromatosis
c.1995+7G>A Single submitter hereditary hemochromatosis
c.2137-10C>G Single submitter hereditary hemochromatosis
c.2137-10C>T Single submitter hereditary hemochromatosis
c.2137-12C>A Single submitter hereditary hemochromatosis
c.2137-12C>G Single submitter hereditary hemochromatosis
c.2137-12C>T Single submitter hereditary hemochromatosis
c.2137-12CT[2] Single submitter hereditary hemochromatosis
c.2137-13C>T Single submitter hereditary hemochromatosis
c.2137-14C>T Single submitter hereditary hemochromatosis
c.2137-16C>A Single submitter hereditary hemochromatosis
c.2137-16C>T Single submitter hereditary hemochromatosis
c.2137-4G>A Single submitter hereditary hemochromatosis
c.2137-5C>G Single submitter hereditary hemochromatosis
c.2137-7T>C Single submitter hereditary hemochromatosis
c.286+10G>A Single submitter hereditary hemochromatosis
c.286+11T>A Single submitter hereditary hemochromatosis
c.286+11T>C Single submitter hereditary hemochromatosis
c.286+12C>A Single submitter hereditary hemochromatosis
c.286+14C>G Single submitter hereditary hemochromatosis
c.286+16C>G Single submitter hereditary hemochromatosis
c.286+16C>T Single submitter hereditary hemochromatosis
c.286+18C>T Single submitter hereditary hemochromatosis
c.286+9C>T Single submitter hereditary hemochromatosis
c.287-12G>A Single submitter hereditary hemochromatosis
c.287-13T>C Single submitter hereditary hemochromatosis
c.287-18C>G Single submitter hereditary hemochromatosis
c.287-19C>G Single submitter hereditary hemochromatosis
c.287-20C>G Single submitter hereditary hemochromatosis
c.287-4C>T Single submitter hereditary hemochromatosis
c.287-6C>T Single submitter hereditary hemochromatosis
c.287-6dup Single submitter hereditary hemochromatosis
c.33+10G>A Single submitter hereditary hemochromatosis
c.33+11T>C Single submitter hereditary hemochromatosis
c.33+14G>A Single submitter hereditary hemochromatosis
c.33+17T>A Single submitter hereditary hemochromatosis
c.33+20G>A Single submitter hereditary hemochromatosis
c.34-10G>A Single submitter hereditary hemochromatosis
c.34-11C>T Single submitter hereditary hemochromatosis
c.34-17C>T Single submitter hereditary hemochromatosis
c.34-18C>T Single submitter hereditary hemochromatosis
c.34-5C>T Single submitter hereditary hemochromatosis
c.473+10G>A Single submitter hereditary hemochromatosis
c.473+14T>A Single submitter hereditary hemochromatosis
c.473+14T>C Single submitter hereditary hemochromatosis
c.473+17C>A Single submitter hereditary hemochromatosis
c.473+18C>G Single submitter hereditary hemochromatosis
c.473+19C>T Single submitter hereditary hemochromatosis
c.474-10C>T Single submitter hereditary hemochromatosis
c.474-20C>T Single submitter hereditary hemochromatosis
c.474-35_474-6del Single submitter hereditary hemochromatosis
c.474-4T>G Single submitter hereditary hemochromatosis
c.474-5C>T Single submitter hereditary hemochromatosis
c.615-4C>G Single submitter hereditary hemochromatosis
c.615-4C>T Single submitter hereditary hemochromatosis
c.615-6C>T Single submitter hereditary hemochromatosis
c.615-9G>A Single submitter hereditary hemochromatosis
c.726+10C>T Single submitter hereditary hemochromatosis
c.726+12C>T Single submitter hereditary hemochromatosis
c.726+16C>T Single submitter hereditary hemochromatosis
c.726+5_726+7dup Single submitter hereditary hemochromatosis
c.726+8C>A Single submitter hereditary hemochromatosis
c.726+8C>T Single submitter hereditary hemochromatosis
c.726+9C>A Single submitter hereditary hemochromatosis
c.727-10G>A Single submitter hereditary hemochromatosis
c.727-10G>C Single submitter hereditary hemochromatosis
c.727-10G>T Single submitter hereditary hemochromatosis
c.727-11C>G Single submitter hereditary hemochromatosis
c.727-13C>A Single submitter hereditary hemochromatosis
c.727-17C>A Single submitter hereditary hemochromatosis
c.727-18C>T Single submitter hereditary hemochromatosis
c.727-20C>T Single submitter hereditary hemochromatosis
c.727-5C>G Single submitter hereditary hemochromatosis
c.727-5C>T Single submitter hereditary hemochromatosis
c.727-6C>T Single submitter hereditary hemochromatosis
c.727-7T>C Single submitter hereditary hemochromatosis
c.849+10C>T Single submitter hereditary hemochromatosis
c.849+12T>G Single submitter hereditary hemochromatosis
c.849+14G>A Single submitter hereditary hemochromatosis
c.849+18G>A Single submitter hereditary hemochromatosis
c.849+20G>A Single submitter hereditary hemochromatosis
c.849+8T>C Single submitter hereditary hemochromatosis
c.850-11T>C Single submitter hereditary hemochromatosis
c.850-12C>T Single submitter hereditary hemochromatosis
c.850-14A>G Single submitter hereditary hemochromatosis
c.850-17G>A Single submitter hereditary hemochromatosis
c.850-5C>T Single submitter hereditary hemochromatosis
c.850-8C>T Single submitter hereditary hemochromatosis
c.966+11G>A Single submitter hereditary hemochromatosis
c.966+13A>T Single submitter hereditary hemochromatosis
c.966+15del Single submitter hereditary hemochromatosis
c.966+20T>C Single submitter hereditary hemochromatosis
c.966+7C>G Single submitter hereditary hemochromatosis
c.966+7C>T Single submitter hereditary hemochromatosis
c.966+9G>A Single submitter hereditary hemochromatosis
c.967-12C>T Single submitter hereditary hemochromatosis
c.967-14C>T Single submitter hereditary hemochromatosis
c.967-15C>T Single submitter hereditary hemochromatosis
c.967-4G>A Single submitter hereditary hemochromatosis
c.*116C>T Single submitter hemochromatosis type 3
p.Ala103= Single submitter hereditary hemochromatosis
p.Ala110= Single submitter hereditary hemochromatosis
p.Ala167= Single submitter hereditary hemochromatosis
p.Ala170= Single submitter hereditary hemochromatosis
p.Ala173= Single submitter hereditary hemochromatosis
p.Ala182= Single submitter hereditary hemochromatosis
p.Ala217= Single submitter hereditary hemochromatosis
p.Ala261= Single submitter hereditary hemochromatosis
p.Ala281= Single submitter hereditary hemochromatosis
p.Ala292= Single submitter hereditary hemochromatosis
p.Ala318= Single submitter hereditary hemochromatosis
p.Ala347Thr Single submitter hereditary hemochromatosis
p.Ala356= Single submitter hereditary hemochromatosis
p.Ala431= Single submitter hereditary hemochromatosis
p.Ala435= Single submitter hereditary hemochromatosis
p.Ala448= Single submitter hereditary hemochromatosis
p.Ala501= Single submitter hereditary hemochromatosis
p.Ala519= Single submitter hereditary hemochromatosis
p.Ala571= Single submitter hereditary hemochromatosis
p.Ala576= Single submitter hereditary hemochromatosis
p.Ala582= Single submitter hereditary hemochromatosis
p.Ala626= Single submitter hereditary hemochromatosis
p.Ala75= Single submitter hereditary hemochromatosis
p.Ala761= Single submitter hereditary hemochromatosis
p.Ala777= Single submitter hereditary hemochromatosis
p.Ala82= Single submitter hereditary hemochromatosis
p.Ala89= Single submitter hereditary hemochromatosis
p.Arg134= Single submitter hereditary hemochromatosis
p.Arg152His Single submitter hereditary hemochromatosis
p.Arg163= Single submitter hereditary hemochromatosis
p.Arg165= Single submitter hereditary hemochromatosis
p.Arg180= Single submitter hereditary hemochromatosis
p.Arg185= Single submitter hereditary hemochromatosis
p.Arg25= Single submitter hereditary hemochromatosis
p.Arg252= Single submitter hereditary hemochromatosis
p.Arg260= Single submitter hereditary hemochromatosis
p.Arg262= Single submitter hereditary hemochromatosis
p.Arg262Gly Single submitter hereditary hemochromatosis
p.Arg269= Single submitter hereditary hemochromatosis
p.Arg274= Single submitter hereditary hemochromatosis
p.Arg3= Single submitter hereditary hemochromatosis
p.Arg30= Single submitter hereditary hemochromatosis
p.Arg366= Single submitter hereditary hemochromatosis
p.Arg396= Single submitter hereditary hemochromatosis
p.Arg398Gln Single submitter hereditary hemochromatosis
p.Arg469= Single submitter hereditary hemochromatosis
p.Arg57= Single submitter hereditary hemochromatosis
p.Arg632= Single submitter hereditary hemochromatosis
p.Arg637His Single submitter hereditary hemochromatosis
p.Arg645= Single submitter hereditary hemochromatosis
p.Arg67= Single submitter hereditary hemochromatosis
p.Arg730= Single submitter hereditary hemochromatosis
p.Arg749= Single submitter hereditary hemochromatosis
p.Arg752= Single submitter hereditary hemochromatosis
p.Arg80= Single submitter hereditary hemochromatosis
p.Asn123= Single submitter hereditary hemochromatosis
p.Asn402= Single submitter hereditary hemochromatosis

Uncertain significance 214

c.*142G>A Multiple submitters hemochromatosis type 3
p.Ala364Thr Multiple submitters hereditary hemochromatosis ⚠
p.Ala45Val Multiple submitters Inborn genetic diseases ⚠
p.Arg366Cys Multiple submitters hereditary hemochromatosis ⚠
p.Arg398Gly Multiple submitters hereditary hemochromatosis ⚠
p.Arg420His Multiple submitters hemochromatosis type 3 ⚠
p.Arg773Gln Multiple submitters Inborn genetic diseases ⚠
p.Arg774Cys Multiple submitters hereditary hemochromatosis ⚠
p.Arg79Trp Multiple submitters Inborn genetic diseases ⚠
p.Gln186Pro Multiple submitters hemochromatosis type 3 ⚠
p.Gly112Arg Multiple submitters hereditary hemochromatosis ⚠
p.Gly373Asp Multiple submitters hemochromatosis type 3 ⚠
p.Gly415Ser Multiple submitters Inborn genetic diseases ⚠
p.Leu175Val Multiple submitters Inborn genetic diseases ⚠
p.Leu776Pro Multiple submitters Inborn genetic diseases ⚠
p.Leu779Pro Multiple submitters hereditary hemochromatosis ⚠
p.Met143Leu Multiple submitters Inborn genetic diseases ⚠
p.Phe97Leu Multiple submitters Inborn genetic diseases ⚠
p.Pro728Leu Multiple submitters hereditary hemochromatosis
p.Trp380Arg Multiple submitters Inborn genetic diseases ⚠
p.Val191Ala Multiple submitters Inborn genetic diseases ⚠
p.Val22Ile Multiple submitters hemochromatosis type 3 ⚠
p.Val277Leu Multiple submitters hereditary hemochromatosis ⚠
p.Val427Ile Multiple submitters Inborn genetic diseases ⚠
p.Val484Met Multiple submitters Inborn genetic diseases ⚠
p.Val496Met Multiple submitters hereditary hemochromatosis ⚠
c.1106+7G>T Single submitter hereditary hemochromatosis
c.1107-3C>T Single submitter hereditary hemochromatosis
c.1473+19C>T Single submitter hereditary hemochromatosis
c.1682+4A>C Single submitter hemochromatosis type 3
c.1767+5G>A Single submitter hereditary hemochromatosis
c.1767+6A>T Single submitter hereditary hemochromatosis
c.286+4A>C Single submitter hereditary hemochromatosis
c.474-7C>T Single submitter hemochromatosis type 3
c.849+2dup Single submitter
c.966+5G>A Single submitter hereditary hemochromatosis
c.-8A>T Single submitter hemochromatosis type 3
c.*141C>T Single submitter hemochromatosis type 3
c.*1G>A Single submitter hemochromatosis type 3
c.*208C>T Single submitter hemochromatosis type 3
c.*220C>T Single submitter hemochromatosis type 3
c.*280A>C Single submitter hemochromatosis type 3
c.*435T>C Single submitter hemochromatosis type 3
c.*55G>A Single submitter hemochromatosis type 3
p.Ala103Thr Single submitter Inborn genetic diseases ⚠
p.Ala11= Single submitter hereditary hemochromatosis
p.Ala11Val Single submitter Inborn genetic diseases ⚠
p.Ala206Asp Single submitter hemochromatosis type 3 ⚠
p.Ala292Asp Single submitter ⚠
p.Ala617Thr Single submitter Inborn genetic diseases ⚠
p.Ala621Asp Single submitter hereditary hemochromatosis ⚠
p.Ala621Pro Single submitter hereditary hemochromatosis ⚠
p.Ala626Thr Single submitter hereditary hemochromatosis ⚠
p.Arg105Gln Single submitter Inborn genetic diseases ⚠
p.Arg10Thr Single submitter hereditary hemochromatosis ⚠
p.Arg17Gly Single submitter hereditary hemochromatosis ⚠
p.Arg185His Single submitter Inborn genetic diseases ⚠
p.Arg25His Single submitter Inborn genetic diseases ⚠
p.Arg260Leu Single submitter ⚠
p.Arg30Trp Single submitter Inborn genetic diseases ⚠
p.Arg398Trp Single submitter Inborn genetic diseases ⚠
p.Arg420Cys Single submitter Inborn genetic diseases ⚠
p.Arg466Trp Single submitter Inborn genetic diseases ⚠
p.Arg468Cys Single submitter ⚠
p.Arg563Gln Single submitter Inborn genetic diseases ⚠
p.Arg632Gly Single submitter Inborn genetic diseases
p.Arg632Pro Single submitter Inborn genetic diseases ⚠
p.Arg632Trp Single submitter hereditary hemochromatosis ⚠
p.Arg645His Single submitter Inborn genetic diseases ⚠
p.Arg67Lys Single submitter Inborn genetic diseases ⚠
p.Arg736Cys Single submitter Inborn genetic diseases ⚠
p.Arg736His Single submitter Inborn genetic diseases ⚠
p.Arg749Gln Single submitter hereditary hemochromatosis ⚠
p.Arg749Trp Single submitter hereditary hemochromatosis ⚠
p.Arg752Cys Single submitter hereditary hemochromatosis ⚠
p.Arg771Cys Single submitter Inborn genetic diseases ⚠
p.Arg774del Single submitter hereditary hemochromatosis
p.Arg774His Single submitter Inborn genetic diseases ⚠
p.Asn402His Single submitter Inborn genetic diseases ⚠
p.Asn540Ser Single submitter hereditary hemochromatosis ⚠
p.Asn554Asp Single submitter Inborn genetic diseases ⚠
p.Asn788Ser Single submitter Inborn genetic diseases ⚠
p.Asn799Lys Single submitter Inborn genetic diseases ⚠
p.Asn799Ser Single submitter Inborn genetic diseases ⚠
p.Asn800Ser Single submitter Inborn genetic diseases ⚠
p.Asp230Glu Single submitter hereditary hemochromatosis ⚠
p.Asp307Val Single submitter Inborn genetic diseases ⚠
p.Asp434Asn Single submitter hereditary hemochromatosis ⚠
p.Asp591His Single submitter hereditary hemochromatosis ⚠
p.Asp726Asn Single submitter ⚠
p.Cys111Ser Single submitter Inborn genetic diseases ⚠
p.Cys416Arg Single submitter hereditary hemochromatosis ⚠
p.Gln132Lys Single submitter Inborn genetic diseases ⚠
p.Glu150Lys Single submitter Inborn genetic diseases ⚠
p.Glu222Val Single submitter hereditary hemochromatosis ⚠
p.Glu35Asp Single submitter Inborn genetic diseases ⚠
p.Glu42Lys Single submitter Inborn genetic diseases ⚠
p.Glu530Gln Single submitter Inborn genetic diseases ⚠
p.Glu55Val Single submitter Inborn genetic diseases ⚠
p.Glu589Val Single submitter hereditary hemochromatosis
p.Glu601Ala Single submitter Inborn genetic diseases ⚠
p.Glu601Lys Single submitter ⚠
p.Gly168Val Single submitter ⚠
p.Gly218Arg Single submitter Inborn genetic diseases ⚠
p.Gly251Arg Single submitter Inborn genetic diseases ⚠
p.Gly268Asp Single submitter Inborn genetic diseases ⚠
p.Gly28Val Single submitter Inborn genetic diseases ⚠
p.Gly373Arg Single submitter hereditary hemochromatosis ⚠
p.Gly386Arg Single submitter hereditary hemochromatosis ⚠
p.Gly394Arg Single submitter Inborn genetic diseases ⚠
p.Gly41Glu Single submitter Inborn genetic diseases ⚠
p.Gly439Glu Single submitter hemochromatosis type 3 ⚠
p.Gly478Cys Single submitter Inborn genetic diseases
p.Gly543Glu Single submitter Inborn genetic diseases ⚠
p.Gly63Val Single submitter hereditary hemochromatosis
p.Gly647Arg Single submitter hereditary hemochromatosis ⚠
p.Gly655Arg Single submitter Inborn genetic diseases ⚠
p.Gly757Arg Single submitter hereditary hemochromatosis ⚠
p.Gly757Glu Single submitter Inborn genetic diseases ⚠
p.Gly78Val Single submitter hemochromatosis type 3 ⚠
p.Gly95Arg Single submitter hereditary hemochromatosis ⚠
p.His190Gln Single submitter hereditary hemochromatosis ⚠
p.His33Gln Single submitter hereditary hemochromatosis ⚠
p.His608Arg Single submitter Inborn genetic diseases ⚠
p.Leu14Arg Single submitter Inborn genetic diseases ⚠
p.Leu153Pro Single submitter hereditary hemochromatosis
p.Leu296Pro Single submitter hereditary hemochromatosis ⚠
p.Leu313Pro Single submitter Inborn genetic diseases ⚠
p.Leu397Pro Single submitter ⚠
p.Leu494His Single submitter hereditary hemochromatosis
p.Leu633Phe Single submitter Inborn genetic diseases ⚠
p.Leu664Phe Single submitter hereditary hemochromatosis ⚠
p.Leu741Val Single submitter hereditary hemochromatosis ⚠
p.Leu745Arg Single submitter hereditary hemochromatosis ⚠
p.Leu750Val Single submitter hemochromatosis type 3 ⚠
p.Leu779Phe Single submitter Inborn genetic diseases ⚠
p.Lys520Asn Single submitter Inborn genetic diseases ⚠
p.Met1Arg Single submitter hereditary hemochromatosis
p.Met460Lys Single submitter Inborn genetic diseases ⚠
p.Met460Thr Single submitter Inborn genetic diseases ⚠
p.Met588Thr Single submitter Inborn genetic diseases ⚠
p.Phe304Val Single submitter Inborn genetic diseases ⚠
p.Pro16Leu Single submitter Inborn genetic diseases ⚠
p.Pro377Ser Single submitter hereditary hemochromatosis ⚠
p.Pro467Thr Single submitter Inborn genetic diseases ⚠
p.Pro66Arg Single submitter Inborn genetic diseases ⚠
p.Ser107Pro Single submitter ⚠
p.Ser305Phe Single submitter Inborn genetic diseases ⚠
p.Ser365Phe Single submitter TFR2-related disorder ⚠
p.Ser506Gly Single submitter hereditary hemochromatosis ⚠
p.Ser64Pro Single submitter hemochromatosis type 3 ⚠
p.Thr21Ser Single submitter ⚠
p.Thr47Ile Single submitter hemochromatosis type 3 ⚠
p.Thr603Ser Single submitter Inborn genetic diseases ⚠
p.Thr740Met Single submitter hereditary hemochromatosis ⚠
p.Thr782Ala Single submitter Inborn genetic diseases ⚠
p.Trp137Cys Single submitter Inborn genetic diseases ⚠
p.Trp5Arg Single submitter Inborn genetic diseases ⚠
p.Tyr136Ser Single submitter hereditary hemochromatosis ⚠
p.Tyr389= Single submitter hemochromatosis type 3
p.Val102Ile Single submitter Inborn genetic diseases ⚠
p.Val191Leu Single submitter Inborn genetic diseases ⚠
p.Val375Leu Single submitter Inborn genetic diseases ⚠
p.Val401Ile Single submitter Inborn genetic diseases ⚠
p.Val454Ala Single submitter Inborn genetic diseases ⚠
p.Val505Met Single submitter hereditary hemochromatosis ⚠
p.Val583Ile Single submitter hemochromatosis type 3 ⚠
p.Val622Met Single submitter Inborn genetic diseases ⚠
p.Val650del Single submitter hereditary hemochromatosis
c.1474-3C>T No assertion criteria hemochromatosis type 3
c.1537+8G>A No assertion criteria hemochromatosis type 3
c.1767+9T>C No assertion criteria hemochromatosis type 3
c.966+4A>C No assertion criteria hemochromatosis type 3
p.Ala356Val No assertion criteria hemochromatosis type 3 ⚠
p.Ala619= No assertion criteria hemochromatosis type 3
p.Arg25Leu No assertion criteria hemochromatosis type 3 ⚠
p.Arg645Cys No assertion criteria hemochromatosis type 3 ⚠
p.Arg730His No assertion criteria hemochromatosis type 3 ⚠
p.Arg771Gly No assertion criteria hemochromatosis type 3 ⚠
p.Asn240= No assertion criteria hemochromatosis type 3
p.Asn411Thr No assertion criteria hemochromatosis type 3 ⚠
p.Asp139His No assertion criteria hemochromatosis type 3
p.Gln201Arg No assertion criteria hemochromatosis type 3 ⚠
p.Gln223del No assertion criteria hemochromatosis type 3
p.Glu164= No assertion criteria hemochromatosis type 3
p.Glu37_Glu43del No assertion criteria hemochromatosis type 3
p.Glu39Lys No assertion criteria hemochromatosis type 3 ⚠
p.Glu530Gly No assertion criteria hemochromatosis type 3 ⚠
p.Glu584Lys No assertion criteria hemochromatosis type 3 ⚠
p.Glu60Gly No assertion criteria hemochromatosis type 3 ⚠
p.Glu659Gly No assertion criteria hemochromatosis type 3 ⚠
p.Gly239Asp No assertion criteria hemochromatosis type 3 ⚠
p.Gly263Asp No assertion criteria hemochromatosis type 3 ⚠
p.Gly382Glu No assertion criteria hemochromatosis type 3 ⚠
p.His33= No assertion criteria hemochromatosis type 3
p.His608Asn No assertion criteria hemochromatosis type 3 ⚠
p.Leu135Val No assertion criteria TFR2-related disorder ⚠
p.Leu528Ile No assertion criteria hemochromatosis type 3 ⚠
p.Leu71Phe No assertion criteria hemochromatosis type 3 ⚠
p.Phe304Ser No assertion criteria hemochromatosis type 3 ⚠
p.Phe585Leu No assertion criteria hemochromatosis type 3 ⚠
p.Phe660Leu No assertion criteria hemochromatosis type 3 ⚠
p.Pro564Thr No assertion criteria hemochromatosis type 3 ⚠
p.Pro59Ser No assertion criteria hemochromatosis type 3 ⚠
p.Pro640His No assertion criteria hemochromatosis type 3
p.Pro724Leu No assertion criteria hemochromatosis type 3 ⚠
p.Pro759Leu No assertion criteria hemochromatosis type 3 ⚠
p.Ser763Phe No assertion criteria hemochromatosis type 3 ⚠
p.Ser763Pro No assertion criteria hemochromatosis type 3 ⚠
p.Thr408Ile No assertion criteria hemochromatosis type 3 ⚠
p.Thr487Lys No assertion criteria hemochromatosis type 3
p.Thr521= No assertion criteria hemochromatosis type 3
p.Thr88Met No assertion criteria TFR2-related disorder ⚠
p.Val241= No assertion criteria hemochromatosis type 3