STEAP3 — 180 ClinVar variants
All ClinVar germline STEAP3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 121 flagged for review →
7 Conflicting · 16 Benign · 1 Benign/Likely benign · 39 Likely benign · 117 Uncertain significance
Full STEAP3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 121
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 5
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
Predictors lean, ClinVar uncertain 72
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- STEAP3 p.Ala490Thr Uncertain significance Multiple submitters
- STEAP3 p.Arg217Ser Uncertain significance Multiple submitters
- STEAP3 p.Arg293Trp Uncertain significance Multiple submitters
- STEAP3 p.Arg466Cys Uncertain significance Multiple submitters
- STEAP3 p.Gln87Arg Uncertain significance Multiple submitters
- STEAP3 p.Ile315Thr Uncertain significance Multiple submitters
- STEAP3 p.Pro18Thr Uncertain significance Multiple submitters
- STEAP3 p.Pro94Leu Uncertain significance Multiple submitters
- STEAP3 p.Val386Met Uncertain significance Multiple submitters
- STEAP3 p.Val414Ala Uncertain significance Multiple submitters
- STEAP3 p.Ala117Val Uncertain significance Single submitter
- STEAP3 p.Ala187Ser Uncertain significance Single submitter
- STEAP3 p.Ala213Thr Uncertain significance Single submitter
- STEAP3 p.Ala238Val Uncertain significance Single submitter
- STEAP3 p.Ala38Asp Uncertain significance Single submitter
- STEAP3 p.Ala412Ser Uncertain significance Single submitter
- STEAP3 p.Ala455Thr Uncertain significance Single submitter
- STEAP3 p.Arg136Cys Uncertain significance Single submitter
- STEAP3 p.Arg136His Uncertain significance Single submitter
- STEAP3 p.Arg169Gly Uncertain significance Single submitter
- STEAP3 p.Arg186His Uncertain significance Single submitter
- STEAP3 p.Arg186Ser Uncertain significance Single submitter
- STEAP3 p.Arg217His Uncertain significance Single submitter
- STEAP3 p.Arg293Gln Uncertain significance Single submitter
- STEAP3 p.Arg466His Uncertain significance Single submitter
- STEAP3 p.Arg467Ser Uncertain significance Single submitter
- STEAP3 p.Arg56Cys Uncertain significance Single submitter
- STEAP3 p.Asn157Ser Uncertain significance Single submitter
- STEAP3 p.Asn345Tyr Uncertain significance Single submitter
- STEAP3 p.Asp16Tyr Uncertain significance Single submitter
- STEAP3 p.Gln181Glu Uncertain significance Single submitter
- STEAP3 p.Glu493Asp Uncertain significance Single submitter
- STEAP3 p.Glu493Lys Uncertain significance Single submitter
- STEAP3 p.Glu88Gln Uncertain significance Single submitter
- STEAP3 p.Glu89Lys Uncertain significance Single submitter
-
STEAP3 p.His132Asn
Uncertain significance
Single submitter
primary ciliary dyskinesia 15
- STEAP3 p.His326Arg Uncertain significance Single submitter
- STEAP3 p.His326Asn Uncertain significance Single submitter
- STEAP3 p.Leu146Ile Uncertain significance Single submitter
- STEAP3 p.Leu325Pro Uncertain significance Single submitter
- STEAP3 p.Leu358Phe Uncertain significance Single submitter
- STEAP3 p.Leu444Val Uncertain significance Single submitter
- STEAP3 p.Lys259Arg Uncertain significance Single submitter
- STEAP3 p.Met214Val Uncertain significance Single submitter
- STEAP3 p.Met367Leu Uncertain significance Single submitter
- STEAP3 p.Phe233Val Uncertain significance Single submitter
- STEAP3 p.Pro127Ala Uncertain significance Single submitter
- STEAP3 p.Pro168Gln Uncertain significance Single submitter
- STEAP3 p.Pro176Ala Uncertain significance Single submitter
- STEAP3 p.Pro18Ala Uncertain significance Single submitter
- STEAP3 p.Pro270Leu Uncertain significance Single submitter
- STEAP3 p.Pro390Leu Uncertain significance Single submitter
- STEAP3 p.Pro449Thr Uncertain significance Single submitter
- STEAP3 p.Ser204Thr Uncertain significance Single submitter
- STEAP3 p.Ser406Phe Uncertain significance Single submitter
- STEAP3 p.Ser68Arg Uncertain significance Single submitter
- STEAP3 p.Ser93Pro Uncertain significance Single submitter
- STEAP3 p.Thr380Met Uncertain significance Single submitter
- STEAP3 p.Thr443Met Uncertain significance Single submitter
- STEAP3 p.Thr487Ile Uncertain significance Single submitter
- STEAP3 p.Thr85Ile Uncertain significance Single submitter
- STEAP3 p.Trp425Arg Uncertain significance Single submitter
- STEAP3 p.Tyr281Cys Uncertain significance Single submitter
- STEAP3 p.Tyr437Cys Uncertain significance Single submitter
- STEAP3 p.Val211Ala Uncertain significance Single submitter
- STEAP3 p.Val242Ile Uncertain significance Single submitter
- STEAP3 p.Val245Ile Uncertain significance Single submitter
- STEAP3 p.Val264Gly Uncertain significance Single submitter
- STEAP3 p.Val272Glu Uncertain significance Single submitter
- STEAP3 p.Val280Met Uncertain significance Single submitter
- STEAP3 p.Val404Ile Uncertain significance Single submitter
- STEAP3 p.Val451Ile Uncertain significance Single submitter
Predictors split 44
The independent predictors disagree with each other — read with care.
- STEAP3 p.Arg336His Uncertain significance Multiple submitters
- STEAP3 p.Arg340His Likely benign Multiple submitters
- STEAP3 p.Arg399Lys Likely benign Multiple submitters
- STEAP3 p.Glu141Lys Uncertain significance Multiple submitters
- STEAP3 p.Gly179Ser Benign Multiple submitters
- STEAP3 p.Gly379Cys Uncertain significance Multiple submitters
- STEAP3 p.Ala184Val Uncertain significance Single submitter
- STEAP3 p.Ala323Thr Uncertain significance Single submitter
- STEAP3 p.Ala82Asp Uncertain significance Single submitter
- STEAP3 p.Arg186Cys Uncertain significance Single submitter
- STEAP3 p.Arg217Cys Uncertain significance Single submitter
- STEAP3 p.Arg300Cys Uncertain significance Single submitter
- STEAP3 p.Arg300His Benign Single submitter
- STEAP3 p.Arg336Cys Uncertain significance Single submitter
- STEAP3 p.Arg427Cys Uncertain significance Single submitter
- STEAP3 p.Arg427Pro Uncertain significance Single submitter
- STEAP3 p.Arg472Trp Uncertain significance Single submitter
- STEAP3 p.Arg51Cys Uncertain significance Single submitter
- STEAP3 p.Arg51His Uncertain significance Single submitter
- STEAP3 p.Arg56His Uncertain significance Single submitter
-
STEAP3 p.Arg69Cys
Uncertain significance
Single submitter
severe congenital hypochromic anemia with ringed sideroblasts
- STEAP3 p.Arg69His Uncertain significance Single submitter
- STEAP3 p.Arg73Cys Conflicting Single submitter
- STEAP3 p.Gln314Glu Uncertain significance Single submitter
-
STEAP3 p.Gln350His
Uncertain significance
Single submitter
primary ciliary dyskinesia 15
- STEAP3 p.Gly295Ser Uncertain significance Single submitter
- STEAP3 p.Gly424Ser Uncertain significance Single submitter
- STEAP3 p.Gly61Asp Uncertain significance Single submitter
- STEAP3 p.Leu146Phe Uncertain significance Single submitter
- STEAP3 p.Leu205Val Uncertain significance Single submitter
- STEAP3 p.Met202Ile Uncertain significance Single submitter
- STEAP3 p.Pro334Leu Conflicting Single submitter
- STEAP3 p.Thr387Ala Uncertain significance Single submitter
- STEAP3 p.Thr420Met Likely benign Single submitter
- STEAP3 p.Thr443Arg Uncertain significance Single submitter
- STEAP3 p.Tyr249Cys Uncertain significance Single submitter
-
STEAP3 p.Tyr249His
Uncertain significance
Single submitter
severe congenital hypochromic anemia with ringed sideroblasts
- STEAP3 p.Tyr249Ser Uncertain significance Single submitter
- STEAP3 p.Val175Met Uncertain significance Single submitter
- STEAP3 p.Val272Met Uncertain significance Single submitter
- STEAP3 p.Val285Met Uncertain significance Single submitter
- STEAP3 p.Val344Asp Uncertain significance Single submitter
- STEAP3 p.Val414Met Uncertain significance Single submitter
- STEAP3 p.Val84Ala Uncertain significance Single submitter
All STEAP3 variants
Conflicting classifications of pathogenicity 7
- p.Arg73Cys Single submitter ⚠
- p.Asn240Ser Single submitter ⚠
- p.Asp36Asn Single submitter ⚠
- p.Pro334Leu Single submitter ⚠
- p.Thr226Ile Single submitter ⚠
- p.Val200Met Single submitter ⚠
- p.Val234Ile Single submitter ⚠
Benign 16
- p.Ala194Thr Multiple submitters
- p.Arg294His Multiple submitters
- p.Arg337= Multiple submitters
- p.Gly179Ser Multiple submitters ⚠
- p.Leu279= Multiple submitters
- p.Leu446= Multiple submitters
- p.Phe401= Multiple submitters
- p.Pro94= Multiple submitters
- p.Ser406= Multiple submitters
- c.1051-20T>C Single submitter
- c.523-4G>A Single submitter
- p.Arg300His Single submitter ⚠
- p.Thr495Met Single submitter
- p.Tyr423= Single submitter
- c.1215+2737C>T No assertion criteria STEAP3-related disorder
- c.1215+2773A>T No assertion criteria STEAP3-related disorder
Benign/Likely benign 1
- p.Tyr434= Multiple submitters
Likely benign 39
- p.Arg340His Multiple submitters ⚠
- p.Arg399Lys Multiple submitters ⚠
- p.His326= Multiple submitters
- p.Thr484Met Multiple submitters
- c.1050+12A>G Single submitter
- c.1215+2604C>T Single submitter
- c.1215+2738T>G Single submitter
- p.Ala166Ser Single submitter
- p.Ala192Val Single submitter
- p.Ala206Val Single submitter
- p.Arg477Lys Single submitter
- p.Asp244= Single submitter
- p.Cys271Ter Single submitter
- p.Gln174= Single submitter
- p.Glu361= Single submitter
- p.Glu493= Single submitter
- p.Gly474= Single submitter
- p.Ile43= Single submitter
- p.Leu193= Single submitter
- p.Leu205= Single submitter
- p.Leu216= Single submitter
- p.Leu277Pro Single submitter
- p.Leu378= Single submitter
- p.Lys185= Single submitter
- p.Met15Val Single submitter
- p.Phe233= Single submitter
- p.Pro148= Single submitter
- p.Pro215= Single submitter
- p.Pro220= Single submitter
- p.Pro334= Single submitter
- p.Pro71= Single submitter
- p.Ser27= Single submitter
- p.Thr420Met Single submitter ⚠
- p.Thr495= Single submitter
- p.Tyr341= Single submitter
- p.Val65= Single submitter
- c.1215+2650C>A No assertion criteria STEAP3-related disorder
- p.Ala117= No assertion criteria STEAP3-related disorder
- p.Pro35= No assertion criteria STEAP3-related disorder
Uncertain significance 117
- p.Ala490Thr Multiple submitters ⚠
- p.Arg217Ser Multiple submitters ⚠
- p.Arg293Trp Multiple submitters ⚠
- p.Arg336His Multiple submitters ⚠
- p.Arg466Cys Multiple submitters ⚠
- p.Gln87Arg Multiple submitters ⚠
- p.Glu141Lys Multiple submitters ⚠
- p.Gly379Cys Multiple submitters ⚠
- p.Ile315Thr Multiple submitters ⚠
- p.Pro18Thr Multiple submitters ⚠
- p.Pro94Leu Multiple submitters ⚠
- p.Val386Met Multiple submitters ⚠
- p.Val414Ala Multiple submitters ⚠
- c.1215+2771C>G Single submitter severe congenital hypochromic anemia with ringed sideroblasts
- p.Ala117Val Single submitter ⚠
- p.Ala184Val Single submitter ⚠
- p.Ala187Ser Single submitter ⚠
- p.Ala213Thr Single submitter ⚠
- p.Ala238Val Single submitter ⚠
- p.Ala323Thr Single submitter ⚠
- p.Ala38Asp Single submitter ⚠
- p.Ala412Ser Single submitter ⚠
- p.Ala455Thr Single submitter ⚠
- p.Ala82Asp Single submitter ⚠
- p.Ala8Val Single submitter
- p.Arg136Cys Single submitter ⚠
- p.Arg136His Single submitter ⚠
- p.Arg169Gly Single submitter ⚠
- p.Arg186Cys Single submitter ⚠
- p.Arg186His Single submitter ⚠
- p.Arg186Ser Single submitter ⚠
- p.Arg217Cys Single submitter ⚠
- p.Arg217His Single submitter ⚠
- p.Arg293Gln Single submitter ⚠
- p.Arg300Cys Single submitter ⚠
- p.Arg336Cys Single submitter ⚠
- p.Arg427Cys Single submitter ⚠
- p.Arg427Pro Single submitter ⚠
- p.Arg466His Single submitter ⚠
- p.Arg467Ser Single submitter ⚠
- p.Arg472Trp Single submitter ⚠
- p.Arg51Cys Single submitter ⚠
- p.Arg51His Single submitter ⚠
- p.Arg56Cys Single submitter ⚠
- p.Arg56His Single submitter ⚠
- p.Arg69Cys Single submitter severe congenital hypochromic anemia with ringed sideroblasts ⚠
- p.Arg69His Single submitter ⚠
- p.Asn157Ser Single submitter ⚠
- p.Asn345Tyr Single submitter ⚠
- p.Asp16Tyr Single submitter ⚠
- p.Gln174His Single submitter
- p.Gln181Glu Single submitter ⚠
- p.Gln314Glu Single submitter ⚠
- p.Gln350His Single submitter primary ciliary dyskinesia 15 ⚠
- p.Gln4Lys Single submitter
- p.Glu476Lys Single submitter
- p.Glu493Asp Single submitter ⚠
- p.Glu493Lys Single submitter ⚠
- p.Glu88Gln Single submitter ⚠
- p.Glu89Lys Single submitter ⚠
- p.Gly295Ser Single submitter ⚠
- p.Gly424Ser Single submitter ⚠
- p.Gly61Asp Single submitter ⚠
- p.His132Asn Single submitter primary ciliary dyskinesia 15 ⚠
- p.His326Arg Single submitter ⚠
- p.His326Asn Single submitter ⚠
- p.Leu146Ile Single submitter ⚠
- p.Leu146Phe Single submitter ⚠
- p.Leu205Val Single submitter ⚠
- p.Leu325Pro Single submitter ⚠
- p.Leu358Phe Single submitter ⚠
- p.Leu444Val Single submitter ⚠
- p.Lys259Arg Single submitter ⚠
- p.Met202Ile Single submitter ⚠
- p.Met214Val Single submitter ⚠
- p.Met367Leu Single submitter ⚠
- p.Phe233Val Single submitter ⚠
- p.Phe321del Single submitter
- p.Pro127Ala Single submitter ⚠
- p.Pro168Gln Single submitter ⚠
- p.Pro176Ala Single submitter ⚠
- p.Pro18Ala Single submitter ⚠
- p.Pro270Leu Single submitter ⚠
- p.Pro390Leu Single submitter ⚠
- p.Pro449Thr Single submitter ⚠
- p.Ser204Thr Single submitter ⚠
- p.Ser2Leu Single submitter
- p.Ser406Phe Single submitter ⚠
- p.Ser68Arg Single submitter ⚠
- p.Ser93Pro Single submitter ⚠
- p.Thr380Met Single submitter ⚠
- p.Thr387Ala Single submitter ⚠
- p.Thr443Arg Single submitter ⚠
- p.Thr443Met Single submitter ⚠
- p.Thr487Ile Single submitter ⚠
- p.Thr85Ile Single submitter ⚠
- p.Trp425Arg Single submitter ⚠
- p.Tyr249Cys Single submitter ⚠
- p.Tyr249His Single submitter severe congenital hypochromic anemia with ringed sideroblasts ⚠
- p.Tyr249Ser Single submitter ⚠
- p.Tyr281Cys Single submitter ⚠
- p.Tyr437Cys Single submitter ⚠
- p.Val101Ala Single submitter
- p.Val175Met Single submitter ⚠
- p.Val211Ala Single submitter ⚠
- p.Val242Ile Single submitter ⚠
- p.Val245Ile Single submitter ⚠
- p.Val264Gly Single submitter ⚠
- p.Val272Glu Single submitter ⚠
- p.Val272Met Single submitter ⚠
- p.Val280Met Single submitter ⚠
- p.Val285Met Single submitter ⚠
- p.Val344Asp Single submitter ⚠
- p.Val404Ile Single submitter ⚠
- p.Val414Met Single submitter ⚠
- p.Val451Ile Single submitter ⚠
- p.Val84Ala Single submitter ⚠