SLC11A2 — 170 ClinVar variants
All ClinVar germline SLC11A2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 57 flagged for review →
6 Pathogenic · 1 Likely pathogenic · 7 Conflicting · 21 Benign · 9 Benign/Likely benign · 24 Likely benign · 102 Uncertain significance
Full SLC11A2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 57
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 agree, ClinVar conflicts 1
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
SLC11A2 p.Ile420Val
Conflicting
Single submitter
SLC11A2-related disorder
Predictors lean, ClinVar uncertain 42
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
SLC11A2 p.Asn311Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SLC11A2 p.Glu320Lys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SLC11A2 p.Thr543Lys
Uncertain significance
Multiple submitters
SLC11A2-related disorder
-
SLC11A2 p.Ala410Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLC11A2 p.Ala419Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLC11A2 p.Ala48Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLC11A2 p.Ala517Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLC11A2 p.Arg139Cys
Uncertain significance
Single submitter
Inborn genetic diseases
- SLC11A2 p.Arg139His Uncertain significance Single submitter
-
SLC11A2 p.Arg146Gly
Uncertain significance
Single submitter
microcytic anemia with liver iron overload
-
SLC11A2 p.Arg205Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLC11A2 p.Arg205Trp
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLC11A2 p.Arg290Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLC11A2 p.Arg464Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLC11A2 p.Arg477Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLC11A2 p.Asn26Ile
Uncertain significance
Single submitter
Inborn genetic diseases
- SLC11A2 p.Asp93Asn Uncertain significance Single submitter
-
SLC11A2 p.Glu328Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLC11A2 p.Glu399Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLC11A2 p.Glu91Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLC11A2 p.Gly19Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLC11A2 p.Gly239Ser
Uncertain significance
Single submitter
microcytic anemia with liver iron overload
-
SLC11A2 p.Gly97Ala
Uncertain significance
Single submitter
microcytic anemia with liver iron overload
-
SLC11A2 p.His504Arg
Uncertain significance
Single submitter
microcytic anemia with liver iron overload
-
SLC11A2 p.Ile158Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLC11A2 p.Ile172Val
Uncertain significance
Single submitter
microcytic anemia with liver iron overload
-
SLC11A2 p.Ile457Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLC11A2 p.Ile90Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLC11A2 p.Leu133Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLC11A2 p.Leu304Phe
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLC11A2 p.Leu344Phe
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLC11A2 p.Met80Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLC11A2 p.Ser234Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLC11A2 p.Ser407Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLC11A2 p.Ser536Phe
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLC11A2 p.Ser63Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLC11A2 p.Thr193Ile
Uncertain significance
Single submitter
microcytic anemia with liver iron overload
-
SLC11A2 p.Val260Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLC11A2 p.Val260Met
Uncertain significance
Single submitter
Inborn genetic diseases
- SLC11A2 p.Val2Leu Uncertain significance Single submitter
-
SLC11A2 p.Val377Met
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLC11A2 p.Val516Met
Uncertain significance
Single submitter
Inborn genetic diseases
Predictors split 14
The independent predictors disagree with each other — read with care.
-
SLC11A2 p.Ala209Thr
Benign
Multiple submitters
microcytic anemia with liver iron overload
-
SLC11A2 p.Ile298Thr
Benign
Multiple submitters
microcytic anemia with liver iron overload
-
SLC11A2 p.Leu435Ile
Likely benign
Multiple submitters
microcytic anemia with liver iron overload
-
SLC11A2 p.Ser350Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SLC11A2 p.Ser66Asn
Uncertain significance
Multiple submitters
microcytic anemia with liver iron overload
-
SLC11A2 p.Val186Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SLC11A2 p.Arg283Trp
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLC11A2 p.Asp348Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLC11A2 p.Gly212Val
Uncertain significance
Single submitter
microcytic anemia with liver iron overload
-
SLC11A2 p.Gly364Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLC11A2 p.Ile487Met
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLC11A2 p.Met240Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLC11A2 p.Thr216Ile
Uncertain significance
Single submitter
microcytic anemia with liver iron overload
-
SLC11A2 p.Val444Ile
Uncertain significance
Single submitter
Inborn genetic diseases
All SLC11A2 variants
Pathogenic 6
- c.675+35A>G Single submitter microcytic anemia with liver iron overload
- p.Gly75Arg Single submitter microcytic anemia with liver iron overload
- c.310-5_310-3del No assertion criteria microcytic anemia with liver iron overload
- p.Arg416Cys No assertion criteria microcytic anemia with liver iron overload
- p.Glu399Asp No assertion criteria microcytic anemia with liver iron overload
- p.Val114del No assertion criteria microcytic anemia with liver iron overload
Likely pathogenic 1
- p.Glu53Ter Single submitter
Conflicting classifications of pathogenicity 7
- c.*11G>A Single submitter microcytic anemia with liver iron overload
- p.Gly475= Single submitter microcytic anemia with liver iron overload
- p.Ile420Val Single submitter SLC11A2-related disorder ⚠
- p.Leu344= Single submitter microcytic anemia with liver iron overload
- p.Leu445= Single submitter
- p.Ser168= Single submitter microcytic anemia with liver iron overload
- p.Val276= Single submitter microcytic anemia with liver iron overload
Benign 21
- c.309+44A>C Multiple submitters microcytic anemia with liver iron overload
- c.34+6T>G Multiple submitters microcytic anemia with liver iron overload
- c.49+10C>G Multiple submitters
- c.607+12G>A Multiple submitters microcytic anemia with liver iron overload
- c.-110G>T Multiple submitters microcytic anemia with liver iron overload
- c.*1031G>A Multiple submitters microcytic anemia with liver iron overload
- c.*1273G>A Multiple submitters microcytic anemia with liver iron overload
- c.*1876T>C Multiple submitters microcytic anemia with liver iron overload
- c.*358A>G Multiple submitters microcytic anemia with liver iron overload
- c.*390G>A Multiple submitters microcytic anemia with liver iron overload
- p.Ala209Thr Multiple submitters microcytic anemia with liver iron overload ⚠
- p.Ile298Thr Multiple submitters microcytic anemia with liver iron overload ⚠
- p.Ile418= Multiple submitters microcytic anemia with liver iron overload
- p.Tyr62His Multiple submitters microcytic anemia with liver iron overload
- c.-39+5G>C Single submitter microcytic anemia with liver iron overload
- c.-78G>A Single submitter microcytic anemia with liver iron overload
- c.*1215A>C Single submitter microcytic anemia with liver iron overload
- c.*1261G>A Single submitter microcytic anemia with liver iron overload
- c.*1486G>T Single submitter microcytic anemia with liver iron overload
- c.*789G>A Single submitter microcytic anemia with liver iron overload
- c.*872A>C Single submitter microcytic anemia with liver iron overload
Benign/Likely benign 9
- c.1348-10T>C Multiple submitters microcytic anemia with liver iron overload
- c.1422-18T>A Multiple submitters
- c.1576-14A>G Multiple submitters microcytic anemia with liver iron overload
- c.34+11G>A Multiple submitters microcytic anemia with liver iron overload
- c.35-498A>C Multiple submitters microcytic anemia with liver iron overload
- c.832-3T>C Multiple submitters microcytic anemia with liver iron overload
- p.Arg500Trp Multiple submitters
- p.Leu85= Multiple submitters microcytic anemia with liver iron overload
- p.Thr461= Multiple submitters
Likely benign 24
- c.*546G>A Multiple submitters microcytic anemia with liver iron overload
- p.Leu435Ile Multiple submitters microcytic anemia with liver iron overload ⚠
- p.Tyr498= Multiple submitters
- p.Val499= Multiple submitters
- c.1348-11_1348-10del Single submitter
- c.1348-19G>A Single submitter
- c.1576-12T>C Single submitter
- c.35-506G>C Single submitter
- c.35-6A>C Single submitter
- c.429+10G>A Single submitter
- c.430-14T>C Single submitter
- c.49+12A>G Single submitter
- c.675+18T>C Single submitter
- c.-2C>T Single submitter
- c.*153A>G Single submitter microcytic anemia with liver iron overload
- p.Arg249= Single submitter
- p.Asn52= Single submitter
- p.Gly258= Single submitter
- p.Phe47= Single submitter
- p.Ser56= Single submitter
- p.Thr337Ser Single submitter Inborn genetic diseases
- p.Thr391= Single submitter
- c.34+5T>C No assertion criteria SLC11A2-related disorder
- p.Arg179= No assertion criteria SLC11A2-related disorder
Uncertain significance 102
- p.Ala555Thr Multiple submitters microcytic anemia with liver iron overload
- p.Arg557His Multiple submitters Inborn genetic diseases
- p.Asn311Ser Multiple submitters Inborn genetic diseases ⚠
- p.Glu320Lys Multiple submitters Inborn genetic diseases ⚠
- p.Ser350Leu Multiple submitters Inborn genetic diseases ⚠
- p.Ser66Asn Multiple submitters microcytic anemia with liver iron overload ⚠
- p.Thr543Lys Multiple submitters SLC11A2-related disorder ⚠
- p.Val186Ile Multiple submitters Inborn genetic diseases ⚠
- c.1421+8T>A Single submitter microcytic anemia with liver iron overload
- c.1576-7C>G Single submitter microcytic anemia with liver iron overload
- c.49+1791C>T Single submitter microcytic anemia with liver iron overload
- c.536+5G>A Single submitter
- c.831+5G>A Single submitter
- c.990+3G>A Single submitter
- c.-38-3C>T Single submitter microcytic anemia with liver iron overload
- c.-39+12G>A Single submitter microcytic anemia with liver iron overload
- c.-39G>A Single submitter microcytic anemia with liver iron overload
- c.-50G>A Single submitter microcytic anemia with liver iron overload
- c.-96C>T Single submitter microcytic anemia with liver iron overload
- c.*1007A>G Single submitter microcytic anemia with liver iron overload
- c.*1057C>T Single submitter microcytic anemia with liver iron overload
- c.*1058G>A Single submitter microcytic anemia with liver iron overload
- c.*1360A>G Single submitter microcytic anemia with liver iron overload
- c.*1367T>C Single submitter microcytic anemia with liver iron overload
- c.*1444C>T Single submitter microcytic anemia with liver iron overload
- c.*1559G>T Single submitter microcytic anemia with liver iron overload
- c.*1599C>T Single submitter microcytic anemia with liver iron overload
- c.*1615T>C Single submitter microcytic anemia with liver iron overload
- c.*1739C>T Single submitter microcytic anemia with liver iron overload
- c.*1795G>A Single submitter microcytic anemia with liver iron overload
- c.*1902C>G Single submitter microcytic anemia with liver iron overload
- c.*1949A>G Single submitter microcytic anemia with liver iron overload
- c.*2289G>T Single submitter microcytic anemia with liver iron overload
- c.*2332A>T Single submitter microcytic anemia with liver iron overload
- c.*295G>A Single submitter microcytic anemia with liver iron overload
- c.*32A>G Single submitter microcytic anemia with liver iron overload
- c.*415G>A Single submitter microcytic anemia with liver iron overload
- c.*420G>A Single submitter microcytic anemia with liver iron overload
- c.*716G>A Single submitter microcytic anemia with liver iron overload
- c.*985G>A Single submitter microcytic anemia with liver iron overload
- c.*986C>A Single submitter microcytic anemia with liver iron overload
- p.Ala171fs Single submitter
- p.Ala371Val Single submitter Inborn genetic diseases
- p.Ala410Asp Single submitter Inborn genetic diseases ⚠
- p.Ala419Thr Single submitter Inborn genetic diseases ⚠
- p.Ala48Ser Single submitter Inborn genetic diseases ⚠
- p.Ala517Thr Single submitter Inborn genetic diseases ⚠
- p.Ala555Val Single submitter Inborn genetic diseases
- p.Arg139Cys Single submitter Inborn genetic diseases ⚠
- p.Arg139His Single submitter ⚠
- p.Arg146Gly Single submitter microcytic anemia with liver iron overload ⚠
- p.Arg205Gln Single submitter Inborn genetic diseases ⚠
- p.Arg205Trp Single submitter Inborn genetic diseases ⚠
- p.Arg283Trp Single submitter Inborn genetic diseases ⚠
- p.Arg290Gln Single submitter Inborn genetic diseases ⚠
- p.Arg464Gln Single submitter Inborn genetic diseases ⚠
- p.Arg477Gln Single submitter Inborn genetic diseases ⚠
- p.Arg68Cys Single submitter Inborn genetic diseases
- p.Asn26Ile Single submitter Inborn genetic diseases ⚠
- p.Asp348Val Single submitter Inborn genetic diseases ⚠
- p.Asp93Asn Single submitter ⚠
- p.Gln528= Single submitter microcytic anemia with liver iron overload
- p.Glu328Lys Single submitter Inborn genetic diseases ⚠
- p.Glu399Lys Single submitter Inborn genetic diseases ⚠
- p.Glu554Ala Single submitter Inborn genetic diseases
- p.Glu91Gln Single submitter Inborn genetic diseases ⚠
- p.Gly19Arg Single submitter Inborn genetic diseases ⚠
- p.Gly212Val Single submitter microcytic anemia with liver iron overload ⚠
- p.Gly239Ser Single submitter microcytic anemia with liver iron overload ⚠
- p.Gly364Ala Single submitter Inborn genetic diseases ⚠
- p.Gly97Ala Single submitter microcytic anemia with liver iron overload ⚠
- p.His504Arg Single submitter microcytic anemia with liver iron overload ⚠
- p.Ile158Val Single submitter Inborn genetic diseases ⚠
- p.Ile172Val Single submitter microcytic anemia with liver iron overload ⚠
- p.Ile457Asn Single submitter Inborn genetic diseases ⚠
- p.Ile487Met Single submitter Inborn genetic diseases ⚠
- p.Ile90Thr Single submitter Inborn genetic diseases ⚠
- p.Leu133Ile Single submitter Inborn genetic diseases ⚠
- p.Leu175= Single submitter microcytic anemia with liver iron overload
- p.Leu304Phe Single submitter Inborn genetic diseases ⚠
- p.Leu344Phe Single submitter Inborn genetic diseases ⚠
- p.Leu402= Single submitter microcytic anemia with liver iron overload
- p.Lys548Glu Single submitter Inborn genetic diseases
- p.Met152Leu Single submitter Inborn genetic diseases
- p.Met240Val Single submitter Inborn genetic diseases ⚠
- p.Met80Thr Single submitter Inborn genetic diseases ⚠
- p.Pro5= Single submitter microcytic anemia with liver iron overload
- p.Ser234Thr Single submitter Inborn genetic diseases ⚠
- p.Ser307= Single submitter microcytic anemia with liver iron overload
- p.Ser407Thr Single submitter Inborn genetic diseases ⚠
- p.Ser536Phe Single submitter Inborn genetic diseases ⚠
- p.Ser63Cys Single submitter Inborn genetic diseases ⚠
- p.Thr193Ile Single submitter microcytic anemia with liver iron overload ⚠
- p.Thr216Ile Single submitter microcytic anemia with liver iron overload ⚠
- p.Thr552Ile Single submitter microcytic anemia with liver iron overload
- p.Val260Leu Single submitter Inborn genetic diseases ⚠
- p.Val260Met Single submitter Inborn genetic diseases ⚠
- p.Val2Leu Single submitter ⚠
- p.Val377Met Single submitter Inborn genetic diseases ⚠
- p.Val444Ile Single submitter Inborn genetic diseases ⚠
- p.Val516Met Single submitter Inborn genetic diseases ⚠
- p.Val560Ile Single submitter Inborn genetic diseases