SLC40A1 — 334 ClinVar variants
All ClinVar germline SLC40A1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 142 flagged for review →
18 Pathogenic · 6 Pathogenic/Likely pathogenic · 18 Likely pathogenic · 18 Conflicting · 23 Benign · 8 Benign/Likely benign · 108 Likely benign · 135 Uncertain significance
Full SLC40A1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 142
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 5
ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.
-
SLC40A1 p.Asn144His
Pathogenic
Single submitter
hemochromatosis type 4
-
SLC40A1 p.Asn185Thr
Likely pathogenic
Single submitter
hemochromatosis type 4
-
SLC40A1 p.Gly267Asp
Pathogenic
Single submitter
hemochromatosis type 4
-
SLC40A1 p.Thr148Ala
Likely pathogenic
No assertion criteria
hemochromatosis type 4
-
SLC40A1 p.Tyr501Cys
Likely pathogenic
No assertion criteria
hemochromatosis type 4
Predictors agree, ClinVar conflicts 12
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
SLC40A1 p.Ala175Asp
Conflicting
Single submitter
Increased circulating ferritin concentration
-
SLC40A1 p.Gln248Leu
Conflicting
Single submitter
Inborn genetic diseases
-
SLC40A1 p.Gly554Ser
Conflicting
Single submitter
hemochromatosis type 4
-
SLC40A1 p.Gly80Cys
Conflicting
Single submitter
SLC40A1-related disorder
-
SLC40A1 p.Ile453Phe
Conflicting
Single submitter
Inborn genetic diseases
-
SLC40A1 p.Met216Val
Conflicting
Single submitter
Inborn genetic diseases
-
SLC40A1 p.Pro259His
Conflicting
Single submitter
Inborn genetic diseases
-
SLC40A1 p.Ser209Leu
Conflicting
Single submitter
hemochromatosis type 4
-
SLC40A1 p.Thr230Asn
Conflicting
Single submitter
hemochromatosis type 4
-
SLC40A1 p.Thr419Ile
Conflicting
Single submitter
hemochromatosis type 4
-
SLC40A1 p.Val218Met
Conflicting
Single submitter
Inborn genetic diseases
-
SLC40A1 p.Val524Ile
Conflicting
Single submitter
SLC40A1-related disorder
Predictors lean, ClinVar uncertain 78
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
SLC40A1 p.Arg371Gln
Uncertain significance
Multiple submitters
hemochromatosis type 4
-
SLC40A1 p.Arg40Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SLC40A1 p.His125Asn
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SLC40A1 p.His125Tyr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SLC40A1 p.Ile351Val
Uncertain significance
Multiple submitters
hemochromatosis type 4
-
SLC40A1 p.Ile79Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SLC40A1 p.Met533Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SLC40A1 p.Val63Ile
Uncertain significance
Multiple submitters
hemochromatosis type 4
-
SLC40A1 p.Ala188Thr
Uncertain significance
Single submitter
hemochromatosis type 4
-
SLC40A1 p.Ala45Glu
Uncertain significance
Single submitter
hemochromatosis type 4
-
SLC40A1 p.Ala69Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLC40A1 p.Arg178Gly
Uncertain significance
Single submitter
hemochromatosis type 4
-
SLC40A1 p.Arg365Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLC40A1 p.Arg40Trp
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLC40A1 p.Arg411Ser
Uncertain significance
Single submitter
hemochromatosis type 4
-
SLC40A1 p.Arg540Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLC40A1 p.Arg9Gly
Uncertain significance
Single submitter
hemochromatosis type 4
-
SLC40A1 p.Asn272Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLC40A1 p.Gln478His
Uncertain significance
Single submitter
hemochromatosis type 4
-
SLC40A1 p.Gln565Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLC40A1 p.Glu165Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLC40A1 p.Glu444Lys
Uncertain significance
Single submitter
hemochromatosis type 4
-
SLC40A1 p.Glu559Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLC40A1 p.Gly204Asp
Uncertain significance
Single submitter
hemochromatosis type 4
-
SLC40A1 p.Gly210Ala
Uncertain significance
Single submitter
hemochromatosis type 4
-
SLC40A1 p.Gly238Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLC40A1 p.Gly298Glu
Uncertain significance
Single submitter
hemochromatosis type 4
-
SLC40A1 p.Gly313Ser
Uncertain significance
Single submitter
hemochromatosis type 4
-
SLC40A1 p.Gly336Arg
Uncertain significance
Single submitter
hemochromatosis type 4
-
SLC40A1 p.Gly468Ser
Uncertain significance
Single submitter
hemochromatosis type 4
-
SLC40A1 p.Gly494Asp
Uncertain significance
Single submitter
hemochromatosis type 4
- SLC40A1 p.Gly494Cys Uncertain significance Single submitter
-
SLC40A1 p.His116Pro
Uncertain significance
Single submitter
hemochromatosis type 4
-
SLC40A1 p.His118Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLC40A1 p.His125Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLC40A1 p.His252Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLC40A1 p.His274Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLC40A1 p.Ile134Met
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLC40A1 p.Ile327Val
Uncertain significance
Single submitter
hemochromatosis type 4
-
SLC40A1 p.Ile344Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLC40A1 p.Ile344Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLC40A1 p.Ile426Met
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLC40A1 p.Ile536Phe
Uncertain significance
Single submitter
hemochromatosis type 4
-
SLC40A1 p.Leu233Val
Uncertain significance
Single submitter
hemochromatosis type 4
-
SLC40A1 p.Leu260Pro
Uncertain significance
Single submitter
hemochromatosis type 4
-
SLC40A1 p.Leu374Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLC40A1 p.Leu469Phe
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLC40A1 p.Met266Ile
Uncertain significance
Single submitter
hemochromatosis type 4
-
SLC40A1 p.Met319Ile
Uncertain significance
Single submitter
hemochromatosis type 4
-
SLC40A1 p.Met41Ile
Uncertain significance
Single submitter
hemochromatosis type 4
-
SLC40A1 p.Met432Thr
Uncertain significance
Single submitter
hemochromatosis type 4
-
SLC40A1 p.Met533Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLC40A1 p.Pro420Ser
Uncertain significance
Single submitter
hemochromatosis type 4
-
SLC40A1 p.Ser433Phe
Uncertain significance
Single submitter
hemochromatosis type 4
-
SLC40A1 p.Ser436Phe
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLC40A1 p.Ser47Phe
Uncertain significance
Single submitter
hemochromatosis type 4
-
SLC40A1 p.Ser498Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLC40A1 p.Thr122Ile
Uncertain significance
Single submitter
hemochromatosis type 4
- SLC40A1 p.Thr130Ile Uncertain significance Single submitter
-
SLC40A1 p.Thr150Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLC40A1 p.Thr197Ser
Uncertain significance
Single submitter
SLC40A1-related disorder
-
SLC40A1 p.Thr255Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLC40A1 p.Thr2Ser
Uncertain significance
Single submitter
hemochromatosis type 4
-
SLC40A1 p.Tyr303Cys
Uncertain significance
Single submitter
Inborn genetic diseases
- SLC40A1 p.Tyr431Asp Uncertain significance Single submitter
-
SLC40A1 p.Tyr64His
Uncertain significance
Single submitter
hemochromatosis type 4
-
SLC40A1 p.Val160Phe
Uncertain significance
Single submitter
hemochromatosis type 4
-
SLC40A1 p.Val162Ile
Uncertain significance
Single submitter
hemochromatosis type 4
-
SLC40A1 p.Val221Ile
Uncertain significance
Single submitter
hemochromatosis type 4
-
SLC40A1 p.Val268Met
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLC40A1 p.Val571Phe
Uncertain significance
Single submitter
hemochromatosis type 4
-
SLC40A1 p.Val97Met
Uncertain significance
Single submitter
hemochromatosis type 4
-
SLC40A1 p.Val98Leu
Uncertain significance
Single submitter
hemochromatosis type 4
-
SLC40A1 p.Ala350Thr
Uncertain significance
No assertion criteria
hemochromatosis type 4
-
SLC40A1 p.Ala350Val
Uncertain significance
No assertion criteria
hemochromatosis type 4
-
SLC40A1 p.Leu384Trp
Uncertain significance
No assertion criteria
hemochromatosis type 4
-
SLC40A1 p.Thr320Pro
Uncertain significance
No assertion criteria
SLC40A1-related disorder
- SLC40A1 p.Trp158Leu Uncertain significance No assertion criteria
Predictors split 47
The independent predictors disagree with each other — read with care.
-
SLC40A1 p.Ala232Asp
Uncertain significance
Multiple submitters
hemochromatosis type 1
-
SLC40A1 p.Arg296Gln
Uncertain significance
Multiple submitters
hemochromatosis type 4
-
SLC40A1 p.Asn144Asp
Pathogenic
Multiple submitters
hemochromatosis type 4
-
SLC40A1 p.Cys326Tyr
Pathogenic
Multiple submitters
hemochromatosis type 4
-
SLC40A1 p.Gly204Ser
Pathogenic/Likely pathogenic
Multiple submitters
SLC40A1-related disorder
-
SLC40A1 p.Gly31Asp
Uncertain significance
Multiple submitters
hemochromatosis type 4
-
SLC40A1 p.Val495Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SLC40A1 p.Ala149Val
Uncertain significance
Single submitter
hemochromatosis type 4
- SLC40A1 p.Ala24Val Uncertain significance Single submitter
-
SLC40A1 p.Ala289Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLC40A1 p.Ala315Gly
Uncertain significance
Single submitter
hemochromatosis type 4
-
SLC40A1 p.Ala465Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLC40A1 p.Arg293Cys
Conflicting
Single submitter
Inborn genetic diseases
-
SLC40A1 p.Arg293His
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLC40A1 p.Arg364Cys
Conflicting
Single submitter
Inborn genetic diseases
-
SLC40A1 p.Arg371Trp
Likely benign
Single submitter
hemochromatosis type 4
-
SLC40A1 p.Asn141His
Uncertain significance
Single submitter
hemochromatosis type 4
-
SLC40A1 p.Asn144Tyr
Pathogenic
Single submitter
hemochromatosis type 4
-
SLC40A1 p.Asn174Ser
Uncertain significance
Single submitter
hemochromatosis type 4
-
SLC40A1 p.Cys326Phe
Likely pathogenic
Single submitter
hemochromatosis type 4
-
SLC40A1 p.Gly164Arg
Uncertain significance
Single submitter
hemochromatosis type 4
- SLC40A1 p.Gly31Val Uncertain significance Single submitter
-
SLC40A1 p.Gly490Ser
Likely pathogenic
Single submitter
hemochromatosis type 4
-
SLC40A1 p.Gly494Ser
Uncertain significance
Single submitter
hemochromatosis type 4
- SLC40A1 p.Gly534Ala Uncertain significance Single submitter
-
SLC40A1 p.His507Arg
Uncertain significance
Single submitter
hemochromatosis type 4
-
SLC40A1 p.Ile180Thr
Uncertain significance
Single submitter
hemochromatosis type 4
-
SLC40A1 p.Ile526Met
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLC40A1 p.Met346Ile
Uncertain significance
Single submitter
hemochromatosis type 4
-
SLC40A1 p.Phe49Leu
Uncertain significance
Single submitter
hemochromatosis type 4
-
SLC40A1 p.Phe530Leu
Uncertain significance
Single submitter
hemochromatosis type 4
-
SLC40A1 p.Ser147Asn
Uncertain significance
Single submitter
Inborn genetic diseases
- SLC40A1 p.Ser47Pro Uncertain significance Single submitter
-
SLC40A1 p.Ser71Cys
Uncertain significance
Single submitter
hemochromatosis type 4
-
SLC40A1 p.Ser71Phe
Likely pathogenic
Single submitter
hemochromatosis type 4
-
SLC40A1 p.Thr61Ala
Uncertain significance
Single submitter
hemochromatosis type 4
-
SLC40A1 p.Tyr333Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLC40A1 p.Val300Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLC40A1 p.Val462Ile
Conflicting
Single submitter
hemochromatosis type 4
-
SLC40A1 p.Val511Ile
Conflicting
Single submitter
SLC40A1-related disorder
-
SLC40A1 p.Cys326Gly
Uncertain significance
No assertion criteria
SLC40A1-related disorder
-
SLC40A1 p.Gln182His
Pathogenic
No assertion criteria
hemochromatosis type 4
-
SLC40A1 p.Leu345Phe
Uncertain significance
No assertion criteria
SLC40A1-related disorder
-
SLC40A1 p.Met173Val
Uncertain significance
No assertion criteria
hemochromatosis type 4
-
SLC40A1 p.Val113Ala
Uncertain significance
No assertion criteria
SLC40A1-related disorder
-
SLC40A1 p.Val160Ala
Pathogenic
No assertion criteria
hemochromatosis type 4
-
SLC40A1 p.Val63Ala
Likely pathogenic
No assertion criteria
hemochromatosis type 4
All SLC40A1 variants
Pathogenic 18
- p.Asn144Asp Multiple submitters hemochromatosis type 4 ⚠
- p.Cys326Tyr Multiple submitters hemochromatosis type 4 ⚠
- p.Gly490Asp Multiple submitters hemochromatosis type 4
- p.Asn144His Single submitter hemochromatosis type 4 ⚠
- p.Asn144Tyr Single submitter hemochromatosis type 4 ⚠
- p.Gly267Asp Single submitter hemochromatosis type 4 ⚠
- p.Trp158Cys Single submitter hemochromatosis type 4
- c.-205A>C No assertion criteria hemochromatosis type 4
- p.Ala350Asp No assertion criteria hemochromatosis type 4
- p.Ala77Asp No assertion criteria hemochromatosis type 4
- p.Asp181Asn No assertion criteria hemochromatosis type 4
- p.Asp181Val No assertion criteria hemochromatosis type 4
- p.Gln182Glu No assertion criteria hemochromatosis type 4
- p.Gln182His No assertion criteria hemochromatosis type 4 ⚠
- p.Gly323Val No assertion criteria hemochromatosis type 4
- p.Gly80Val No assertion criteria hemochromatosis type 4
- p.Val160Ala No assertion criteria hemochromatosis type 4 ⚠
- p.Val531Ala No assertion criteria hemochromatosis type 4
Pathogenic/Likely pathogenic 6
- p.Arg178Gln Multiple submitters hemochromatosis type 4
- p.Arg88Gly Multiple submitters hemochromatosis type 4
- p.Arg88Thr Multiple submitters hemochromatosis type 4
- p.Gly204Ser Multiple submitters SLC40A1-related disorder ⚠
- p.Gly80Ser Multiple submitters hemochromatosis type 4
- p.Val162del Multiple submitters SLC40A1-related disorder
Likely pathogenic 18
- p.Asp157Gly Multiple submitters hemochromatosis type 4
- p.Asn185Thr Single submitter hemochromatosis type 4 ⚠
- p.Cys326Phe Single submitter hemochromatosis type 4 ⚠
- p.Gln335Ter Single submitter SLC40A1-related disorder
- p.Gly490Ser Single submitter hemochromatosis type 4 ⚠
- p.Leu233Pro Single submitter hemochromatosis type 4
- p.Lys422delinsValArgLeuThrArgThrValTer Single submitter hemochromatosis type 4
- p.Ser417_Ile418insThrArgThrValTer Single submitter hemochromatosis type 4
- p.Ser71Phe Single submitter hemochromatosis type 4 ⚠
- p.Tyr64Asn Single submitter SLC40A1-related disorder
- p.Arg179Thr No assertion criteria hemochromatosis type 4
- p.Gly204Val No assertion criteria hemochromatosis type 4
- p.Gly206Arg No assertion criteria hemochromatosis type 4
- p.Gly323Asp No assertion criteria hemochromatosis type 4
- p.Thr148Ala No assertion criteria hemochromatosis type 4 ⚠
- p.Tyr227Asp No assertion criteria hemochromatosis type 4
- p.Tyr501Cys No assertion criteria hemochromatosis type 4 ⚠
- p.Val63Ala No assertion criteria hemochromatosis type 4 ⚠
Conflicting classifications of pathogenicity 18
- c.272-14C>T Single submitter hemochromatosis type 4
- p.Ala175Asp Single submitter Increased circulating ferritin concentration ⚠
- p.Arg293Cys Single submitter Inborn genetic diseases ⚠
- p.Arg364Cys Single submitter Inborn genetic diseases ⚠
- p.Gln182= Single submitter hemochromatosis type 4
- p.Gln248Leu Single submitter Inborn genetic diseases ⚠
- p.Gly554Ser Single submitter hemochromatosis type 4 ⚠
- p.Gly80Cys Single submitter SLC40A1-related disorder ⚠
- p.Ile453Phe Single submitter Inborn genetic diseases ⚠
- p.Met216Val Single submitter Inborn genetic diseases ⚠
- p.Pro259His Single submitter Inborn genetic diseases ⚠
- p.Ser209Leu Single submitter hemochromatosis type 4 ⚠
- p.Thr230Asn Single submitter hemochromatosis type 4 ⚠
- p.Thr419Ile Single submitter hemochromatosis type 4 ⚠
- p.Val218Met Single submitter Inborn genetic diseases ⚠
- p.Val462Ile Single submitter hemochromatosis type 4 ⚠
- p.Val511Ile Single submitter SLC40A1-related disorder ⚠
- p.Val524Ile Single submitter SLC40A1-related disorder ⚠
Benign 23
- c.43+68A>C Multiple submitters
- c.44-24G>C Multiple submitters hemochromatosis type 4
- c.-23A>G Multiple submitters hemochromatosis type 4
- c.-98G>C Multiple submitters hemochromatosis type 4
- c.*1130A>G Multiple submitters hemochromatosis type 4
- p.Leu129= Multiple submitters hemochromatosis type 4
- p.Leu378= Multiple submitters hemochromatosis type 4
- p.Met432Val Multiple submitters hemochromatosis type 4
- p.Tyr64= Multiple submitters hemochromatosis type 4
- p.Val221= Multiple submitters hemochromatosis type 4
- c.1403-14del Single submitter hemochromatosis type 4
- c.1403-14dup Single submitter hemochromatosis type 4
- c.387+20C>T Single submitter hemochromatosis type 4
- c.388-16dup Single submitter hemochromatosis type 4
- c.388-38C>T Single submitter hemochromatosis type 4
- c.43+247AAAC[2] Single submitter
- c.514+269T>A Single submitter
- c.*1123C>T Single submitter hemochromatosis type 4
- c.*289G>T Single submitter hemochromatosis type 4
- c.*50G>A Single submitter hemochromatosis type 4
- c.*833T>C Single submitter hemochromatosis type 4
- p.Ile195= Single submitter hemochromatosis type 4
- p.Pro443Leu Single submitter hemochromatosis type 4
Benign/Likely benign 8
- c.388-14T>A Multiple submitters hemochromatosis type 4
- c.760+14A>G Multiple submitters hemochromatosis type 4
- c.-8C>G Multiple submitters hemochromatosis type 4
- p.Ala552Thr Multiple submitters hemochromatosis type 4
- p.Arg561Gly Multiple submitters hemochromatosis type 4
- p.Gln248His Multiple submitters hemochromatosis type 4
- p.Ile418Val Multiple submitters hemochromatosis type 4
- p.Ser401= Multiple submitters hemochromatosis type 4
Likely benign 108
- c.271+10_271+12del Multiple submitters hemochromatosis type 4
- p.Cys132= Multiple submitters hemochromatosis type 4
- p.Ile203= Multiple submitters hemochromatosis type 4
- p.Lys240del Multiple submitters hemochromatosis type 4
- c.111+13G>A Single submitter
- c.112-19T>C Single submitter hemochromatosis type 4
- c.112-7A>C Single submitter hemochromatosis type 4
- c.1402+10C>A Single submitter hemochromatosis type 4
- c.1402+20A>G Single submitter hemochromatosis type 4
- c.1403-13del Single submitter hemochromatosis type 4
- c.1403-13T>A Single submitter hemochromatosis type 4
- c.1403-7A>G Single submitter hemochromatosis type 4
- c.271+10G>A Single submitter hemochromatosis type 4
- c.271+14_271+15insTA Single submitter hemochromatosis type 4
- c.271+16T>C Single submitter hemochromatosis type 4
- c.272-17T>C Single submitter hemochromatosis type 4
- c.387+12A>G Single submitter hemochromatosis type 4
- c.387+8C>G Single submitter hemochromatosis type 4
- c.388-17T>G Single submitter
- c.43+15C>G Single submitter hemochromatosis type 4
- c.43+17dup Single submitter hemochromatosis type 4
- c.43+20A>G Single submitter
- c.43+7G>A Single submitter
- c.43+9C>T Single submitter hemochromatosis type 4
- c.44-10_44-9del Single submitter hemochromatosis type 4
- c.44-10G>T Single submitter hemochromatosis type 4
- c.44-15C>T Single submitter hemochromatosis type 4
- c.44-20C>A Single submitter hemochromatosis type 4
- c.44-4G>T Single submitter hemochromatosis type 4
- c.44-8C>G Single submitter hemochromatosis type 4
- c.514+16C>T Single submitter hemochromatosis type 4
- c.514+19T>G Single submitter hemochromatosis type 4
- c.514+20T>C Single submitter hemochromatosis type 4
- c.515-15C>A Single submitter hemochromatosis type 4
- c.515-4C>T Single submitter hemochromatosis type 4
- c.515-9C>T Single submitter hemochromatosis type 4
- c.760+11C>T Single submitter hemochromatosis type 4
- c.760+15A>G Single submitter hemochromatosis type 4
- c.761-14T>C Single submitter hemochromatosis type 4
- c.761-17G>T Single submitter
- c.761-19T>A Single submitter hemochromatosis type 4
- c.-14G>C Single submitter hemochromatosis type 4
- p.Ala175= Single submitter hemochromatosis type 4
- p.Ala188= Single submitter hemochromatosis type 4
- p.Ala24= Single submitter hemochromatosis type 4
- p.Ala310= Single submitter hemochromatosis type 4
- p.Ala4= Single submitter hemochromatosis type 4
- p.Ala45= Single submitter hemochromatosis type 4
- p.Ala460= Single submitter hemochromatosis type 4
- p.Ala465= Single submitter hemochromatosis type 4
- p.Ala566= Single submitter hemochromatosis type 4
- p.Arg11= Single submitter hemochromatosis type 4
- p.Arg293= Single submitter hemochromatosis type 4
- p.Arg296= Single submitter hemochromatosis type 4
- p.Arg371Trp Single submitter hemochromatosis type 4 ⚠
- p.Arg409Gly Single submitter hemochromatosis type 4
- p.Asn304= Single submitter hemochromatosis type 4
- p.Asp157= Single submitter hemochromatosis type 4
- p.Cys13= Single submitter hemochromatosis type 4
- p.Cys217= Single submitter hemochromatosis type 4
- p.Gln335= Single submitter hemochromatosis type 4
- p.Glu119= Single submitter hemochromatosis type 4
- p.Glu219= Single submitter hemochromatosis type 4
- p.Glu275= Single submitter hemochromatosis type 4
- p.Glu277= Single submitter hemochromatosis type 4
- p.Glu416= Single submitter hemochromatosis type 4
- p.Gly107= Single submitter hemochromatosis type 4
- p.Gly210= Single submitter hemochromatosis type 4
- p.Gly336= Single submitter hemochromatosis type 4
- p.Gly373= Single submitter hemochromatosis type 4
- p.Gly377= Single submitter hemochromatosis type 4
- p.Gly461= Single submitter hemochromatosis type 4
- p.Gly534= Single submitter hemochromatosis type 4
- p.Gly65= Single submitter hemochromatosis type 4
- p.Ile109= Single submitter hemochromatosis type 4
- p.Ile327= Single submitter hemochromatosis type 4
- p.Ile389= Single submitter hemochromatosis type 4
- p.Ile408= Single submitter hemochromatosis type 4
- p.Ile78= Single submitter hemochromatosis type 4
- p.Leu223= Single submitter
- p.Leu246= Single submitter hemochromatosis type 4
- p.Leu27= Single submitter hemochromatosis type 4
- p.Leu309= Single submitter hemochromatosis type 4
- p.Leu369= Single submitter hemochromatosis type 4
- p.Leu457= Single submitter hemochromatosis type 4
- p.Leu523= Single submitter hemochromatosis type 4
- p.Phe316= Single submitter hemochromatosis type 4
- p.Pro189= Single submitter hemochromatosis type 4
- p.Pro282= Single submitter hemochromatosis type 4
- p.Pro397= Single submitter hemochromatosis type 4
- p.Pro447= Single submitter hemochromatosis type 4
- p.Ser102= Single submitter hemochromatosis type 4
- p.Ser23= Single submitter hemochromatosis type 4
- p.Ser349= Single submitter hemochromatosis type 4
- p.Ser417= Single submitter hemochromatosis type 4
- p.Ser471= Single submitter hemochromatosis type 4
- p.Ser95= Single submitter
- p.Thr2= Single submitter hemochromatosis type 4
- p.Thr230= Single submitter hemochromatosis type 4
- p.Thr428= Single submitter hemochromatosis type 4
- p.Thr475= Single submitter hemochromatosis type 4
- p.Tyr220= Single submitter hemochromatosis type 4
- p.Tyr331= Single submitter hemochromatosis type 4
- p.Val46= Single submitter hemochromatosis type 4
- p.Val511= Single submitter hemochromatosis type 4
- p.Val524= Single submitter hemochromatosis type 4
- p.Val97= Single submitter hemochromatosis type 4
- p.Val98= Single submitter hemochromatosis type 4
Uncertain significance 135
- c.*646C>T Multiple submitters hemochromatosis type 4
- p.Ala232Asp Multiple submitters hemochromatosis type 1 ⚠
- p.Arg296Gln Multiple submitters hemochromatosis type 4 ⚠
- p.Arg371Gln Multiple submitters hemochromatosis type 4 ⚠
- p.Arg40Gln Multiple submitters Inborn genetic diseases ⚠
- p.Gly31Asp Multiple submitters hemochromatosis type 4 ⚠
- p.His125Asn Multiple submitters Inborn genetic diseases ⚠
- p.His125Tyr Multiple submitters Inborn genetic diseases ⚠
- p.Ile351Val Multiple submitters hemochromatosis type 4 ⚠
- p.Ile79Val Multiple submitters Inborn genetic diseases ⚠
- p.Met533Val Multiple submitters Inborn genetic diseases ⚠
- p.Val495Ile Multiple submitters Inborn genetic diseases ⚠
- p.Val63Ile Multiple submitters hemochromatosis type 4 ⚠
- c.1402+4A>G Single submitter hemochromatosis type 4
- c.271+6T>A Single submitter hemochromatosis type 4
- c.388-3T>C Single submitter hemochromatosis type 4
- c.44-2A>G Single submitter hemochromatosis type 4
- c.-147A>G Single submitter hemochromatosis type 4
- c.-201T>G Single submitter hemochromatosis type 4
- c.-253C>A Single submitter hemochromatosis type 4
- c.-28A>T Single submitter hemochromatosis type 4
- c.-31C>G Single submitter hemochromatosis type 4
- c.-344C>G Single submitter hemochromatosis type 4
- c.*1000A>T Single submitter hemochromatosis type 4
- c.*1187T>G Single submitter hemochromatosis type 4
- c.*128A>G Single submitter hemochromatosis type 4
- c.*309G>A Single submitter hemochromatosis type 4
- c.*420_*421del Single submitter
- p.Ala149Val Single submitter hemochromatosis type 4 ⚠
- p.Ala171Ile Single submitter
- p.Ala188Thr Single submitter hemochromatosis type 4 ⚠
- p.Ala24Val Single submitter ⚠
- p.Ala289Pro Single submitter Inborn genetic diseases ⚠
- p.Ala315Gly Single submitter hemochromatosis type 4 ⚠
- p.Ala45Glu Single submitter hemochromatosis type 4 ⚠
- p.Ala465Thr Single submitter Inborn genetic diseases ⚠
- p.Ala69Ser Single submitter Inborn genetic diseases ⚠
- p.Arg178Gly Single submitter hemochromatosis type 4 ⚠
- p.Arg293His Single submitter Inborn genetic diseases ⚠
- p.Arg365Gln Single submitter Inborn genetic diseases ⚠
- p.Arg40Trp Single submitter Inborn genetic diseases ⚠
- p.Arg411Ser Single submitter hemochromatosis type 4 ⚠
- p.Arg540Gln Single submitter Inborn genetic diseases ⚠
- p.Arg9Gly Single submitter hemochromatosis type 4 ⚠
- p.Asn141His Single submitter hemochromatosis type 4 ⚠
- p.Asn174Ser Single submitter hemochromatosis type 4 ⚠
- p.Asn272Asp Single submitter Inborn genetic diseases ⚠
- p.Cys553Ter Single submitter
- p.Gln478His Single submitter hemochromatosis type 4 ⚠
- p.Gln565Lys Single submitter Inborn genetic diseases ⚠
- p.Glu165Gly Single submitter Inborn genetic diseases ⚠
- p.Glu444Lys Single submitter hemochromatosis type 4 ⚠
- p.Glu559Gln Single submitter Inborn genetic diseases ⚠
- p.Gly164Arg Single submitter hemochromatosis type 4 ⚠
- p.Gly204Asp Single submitter hemochromatosis type 4 ⚠
- p.Gly210Ala Single submitter hemochromatosis type 4 ⚠
- p.Gly238Ser Single submitter Inborn genetic diseases ⚠
- p.Gly298Glu Single submitter hemochromatosis type 4 ⚠
- p.Gly313Ser Single submitter hemochromatosis type 4 ⚠
- p.Gly31Val Single submitter ⚠
- p.Gly336Arg Single submitter hemochromatosis type 4 ⚠
- p.Gly468Ser Single submitter hemochromatosis type 4 ⚠
- p.Gly494Asp Single submitter hemochromatosis type 4 ⚠
- p.Gly494Cys Single submitter ⚠
- p.Gly494Ser Single submitter hemochromatosis type 4 ⚠
- p.Gly534Ala Single submitter ⚠
- p.His116Pro Single submitter hemochromatosis type 4 ⚠
- p.His118Arg Single submitter Inborn genetic diseases ⚠
- p.His125Arg Single submitter Inborn genetic diseases ⚠
- p.His252Asn Single submitter Inborn genetic diseases ⚠
- p.His274Arg Single submitter Inborn genetic diseases ⚠
- p.His507Arg Single submitter hemochromatosis type 4 ⚠
- p.Ile134Met Single submitter Inborn genetic diseases ⚠
- p.Ile137Val Single submitter hemochromatosis type 4
- p.Ile180Thr Single submitter hemochromatosis type 4 ⚠
- p.Ile327Val Single submitter hemochromatosis type 4 ⚠
- p.Ile344Thr Single submitter Inborn genetic diseases ⚠
- p.Ile344Val Single submitter Inborn genetic diseases ⚠
- p.Ile426Met Single submitter Inborn genetic diseases ⚠
- p.Ile526Met Single submitter Inborn genetic diseases ⚠
- p.Ile536Phe Single submitter hemochromatosis type 4 ⚠
- p.Leu233Val Single submitter hemochromatosis type 4 ⚠
- p.Leu260Pro Single submitter hemochromatosis type 4 ⚠
- p.Leu345= Single submitter hemochromatosis type 4
- p.Leu374Val Single submitter Inborn genetic diseases ⚠
- p.Leu469Phe Single submitter Inborn genetic diseases ⚠
- p.Lys85Asn Single submitter Inborn genetic diseases
- p.Met266Ile Single submitter hemochromatosis type 4 ⚠
- p.Met319Ile Single submitter hemochromatosis type 4 ⚠
- p.Met346Ile Single submitter hemochromatosis type 4 ⚠
- p.Met41Ile Single submitter hemochromatosis type 4 ⚠
- p.Met432Thr Single submitter hemochromatosis type 4 ⚠
- p.Met533Ile Single submitter Inborn genetic diseases ⚠
- p.Phe49Leu Single submitter hemochromatosis type 4 ⚠
- p.Phe530Leu Single submitter hemochromatosis type 4 ⚠
- p.Pro397Ser Single submitter hemochromatosis type 4
- p.Pro420Ser Single submitter hemochromatosis type 4 ⚠
- p.Ser147Asn Single submitter Inborn genetic diseases ⚠
- p.Ser433Phe Single submitter hemochromatosis type 4 ⚠
- p.Ser436Phe Single submitter Inborn genetic diseases ⚠
- p.Ser47Phe Single submitter hemochromatosis type 4 ⚠
- p.Ser47Pro Single submitter ⚠
- p.Ser498Cys Single submitter Inborn genetic diseases ⚠
- p.Ser71Cys Single submitter hemochromatosis type 4 ⚠
- p.Thr122Ile Single submitter hemochromatosis type 4 ⚠
- p.Thr130Ile Single submitter ⚠
- p.Thr150Ala Single submitter Inborn genetic diseases ⚠
- p.Thr197Ser Single submitter SLC40A1-related disorder ⚠
- p.Thr255Ala Single submitter Inborn genetic diseases ⚠
- p.Thr2Ser Single submitter hemochromatosis type 4 ⚠
- p.Thr61Ala Single submitter hemochromatosis type 4 ⚠
- p.Trp127Ter Single submitter hemochromatosis type 4
- p.Tyr303Cys Single submitter Inborn genetic diseases ⚠
- p.Tyr333Cys Single submitter Inborn genetic diseases ⚠
- p.Tyr431Asp Single submitter ⚠
- p.Tyr64His Single submitter hemochromatosis type 4 ⚠
- p.Val160Phe Single submitter hemochromatosis type 4 ⚠
- p.Val162dup Single submitter hemochromatosis type 4
- p.Val162Ile Single submitter hemochromatosis type 4 ⚠
- p.Val221Ile Single submitter hemochromatosis type 4 ⚠
- p.Val268Met Single submitter Inborn genetic diseases ⚠
- p.Val300Gly Single submitter Inborn genetic diseases ⚠
- p.Val571Phe Single submitter hemochromatosis type 4 ⚠
- p.Val97Met Single submitter hemochromatosis type 4 ⚠
- p.Val98Leu Single submitter hemochromatosis type 4 ⚠
- p.Ala350Thr No assertion criteria hemochromatosis type 4 ⚠
- p.Ala350Val No assertion criteria hemochromatosis type 4 ⚠
- p.Cys326Gly No assertion criteria SLC40A1-related disorder ⚠
- p.Leu345Phe No assertion criteria SLC40A1-related disorder ⚠
- p.Leu384Trp No assertion criteria hemochromatosis type 4 ⚠
- p.Lys549_Ala552delinsAsn No assertion criteria SLC40A1-related disorder
- p.Met173Val No assertion criteria hemochromatosis type 4 ⚠
- p.Thr320Pro No assertion criteria SLC40A1-related disorder ⚠
- p.Trp158Leu No assertion criteria ⚠
- p.Val113Ala No assertion criteria SLC40A1-related disorder ⚠