ERI1 — 110 ClinVar variants
All ClinVar germline ERI1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 76 flagged for review →
3 Pathogenic · 11 Likely pathogenic · 2 Benign · 17 Likely benign · 77 Uncertain significance
Full ERI1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 76
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 lean, ClinVar uncertain 51
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- ERI1 p.Ser333Tyr Uncertain significance Multiple submitters
- ERI1 p.Ala10Ser Uncertain significance Single submitter
- ERI1 p.Ala10Thr Uncertain significance Single submitter
- ERI1 p.Ala13Asp Uncertain significance Single submitter
- ERI1 p.Ala17Glu Uncertain significance Single submitter
- ERI1 p.Ala17Ser Uncertain significance Single submitter
- ERI1 p.Ala58Glu Uncertain significance Single submitter
- ERI1 p.Arg199Thr Uncertain significance Single submitter
- ERI1 p.Arg261Trp Uncertain significance Single submitter
- ERI1 p.Arg272Lys Uncertain significance Single submitter
- ERI1 p.Arg304Gly Uncertain significance Single submitter
- ERI1 p.Arg304Leu Uncertain significance Single submitter
- ERI1 p.Arg317Gln Uncertain significance Single submitter
- ERI1 p.Arg32Pro Uncertain significance Single submitter
- ERI1 p.Asn319Ile Uncertain significance Single submitter
- ERI1 p.Asp289Asn Uncertain significance Single submitter
- ERI1 p.Asp63His Uncertain significance Single submitter
- ERI1 p.Cys186Ser Uncertain significance Single submitter
- ERI1 p.Gln172His Uncertain significance Single submitter
- ERI1 p.Gln205Glu Uncertain significance Single submitter
- ERI1 p.Gln242His Uncertain significance Single submitter
- ERI1 p.Gln40Pro Uncertain significance Single submitter
- ERI1 p.Glu320Lys Uncertain significance Single submitter
- ERI1 p.Gly290Glu Uncertain significance Single submitter
- ERI1 p.Gly313Glu Uncertain significance Single submitter
- ERI1 p.His293Arg Uncertain significance Single submitter
- ERI1 p.His323Gln Uncertain significance Single submitter
- ERI1 p.His323Tyr Uncertain significance Single submitter
- ERI1 p.Ile130Val Uncertain significance Single submitter
- ERI1 p.Ile133Thr Uncertain significance Single submitter
- ERI1 p.Leu182Met Uncertain significance Single submitter
- ERI1 p.Leu316Phe Uncertain significance Single submitter
- ERI1 p.Lys104Arg Uncertain significance Single submitter
- ERI1 p.Lys215Thr Uncertain significance Single submitter
- ERI1 p.Lys269Met Uncertain significance Single submitter
- ERI1 p.Met309Arg Uncertain significance Single submitter
- ERI1 p.Phe238Leu Uncertain significance Single submitter
- ERI1 p.Pro145Ser Uncertain significance Single submitter
- ERI1 p.Pro252Leu Uncertain significance Single submitter
- ERI1 p.Pro340Leu Uncertain significance Single submitter
- ERI1 p.Pro4Ser Uncertain significance Single submitter
- ERI1 p.Pro64Gln Uncertain significance Single submitter
- ERI1 p.Pro64Leu Uncertain significance Single submitter
- ERI1 p.Pro64Ser Uncertain significance Single submitter
- ERI1 p.Pro9Ser Uncertain significance Single submitter
- ERI1 p.Pro9Thr Uncertain significance Single submitter
- ERI1 p.Ser329Asn Uncertain significance Single submitter
- ERI1 p.Ser56Pro Uncertain significance Single submitter
- ERI1 p.Ser89Ala Uncertain significance Single submitter
- ERI1 p.Thr278Ala Uncertain significance Single submitter
- ERI1 p.Thr72Met Uncertain significance Single submitter
Predictors split 25
The independent predictors disagree with each other — read with care.
- ERI1 p.Thr221Ala Uncertain significance Multiple submitters
- ERI1 p.Arg247Ser Uncertain significance Single submitter
- ERI1 p.Asp168Asn Uncertain significance Single submitter
- ERI1 p.Asp184His Uncertain significance Single submitter
- ERI1 p.Asp201Val Uncertain significance Single submitter
- ERI1 p.Cys294Arg Uncertain significance Single submitter
- ERI1 p.Gln205Arg Uncertain significance Single submitter
- ERI1 p.Gln274His Uncertain significance Single submitter
- ERI1 p.Ile132Ser Uncertain significance Single submitter
- ERI1 p.Ile260Val Uncertain significance Single submitter
- ERI1 p.Ile318Met Uncertain significance Single submitter
- ERI1 p.Lys111Glu Uncertain significance Single submitter
- ERI1 p.Lys222Arg Uncertain significance Single submitter
-
ERI1 p.Lys237Asn
Uncertain significance
Single submitter
ERI1-related disorder
- ERI1 p.Lys276Thr Uncertain significance Single submitter
- ERI1 p.Lys321Asn Uncertain significance Single submitter
- ERI1 p.Lys67Asn Uncertain significance Single submitter
- ERI1 p.Met286Val Uncertain significance Single submitter
- ERI1 p.Pro271Thr Uncertain significance Single submitter
- ERI1 p.Ser236Arg Uncertain significance Single submitter
- ERI1 p.Ser263Leu Uncertain significance Single submitter
- ERI1 p.Thr161Met Uncertain significance Single submitter
- ERI1 p.Thr169Met Uncertain significance Single submitter
- ERI1 p.Tyr110Cys Uncertain significance Single submitter
- ERI1 p.Tyr110His Uncertain significance Single submitter
All ERI1 variants
Pathogenic 3
- p.Val210fs Single submitter
- c.582+1G>A No assertion criteria Hoxha-Aliu syndrome
- p.Asp298Ala No assertion criteria spondyloepimetaphyseal dysplasia, Guo-Campeau type
Likely pathogenic 11
- p.Arg304Ter Single submitter spondyloepimetaphyseal dysplasia, Guo-Campeau type
- p.Asp134Gly Single submitter spondyloepimetaphyseal dysplasia, Guo-Campeau type
- p.Asp298Gly Single submitter spondyloepimetaphyseal dysplasia, Guo-Campeau type
- p.Gln172Ter Single submitter Hoxha-Aliu syndrome
- p.Gln244Ter Single submitter ERI1-associated disorder
- p.Glu150Asp Single submitter spondyloepimetaphyseal dysplasia, Guo-Campeau type
- p.Lys118Ter Single submitter Hoxha-Aliu syndrome
- p.Lys209_Val210insTer Single submitter Abnormal finger morphology
- p.Pro155Leu Single submitter spondyloepimetaphyseal dysplasia, Guo-Campeau type
- p.Ser21Ter Single submitter spondyloepimetaphyseal dysplasia, Guo-Campeau type
- p.Ser299Pro Single submitter spondyloepimetaphyseal dysplasia, Guo-Campeau type
Benign 2
- p.Arg291= Multiple submitters
- p.Leu16Pro No assertion criteria ERI1-related disorder
Likely benign 17
- c.109-8_109-7insGT Single submitter
- c.109-9T>G Single submitter
- p.Asn121Ser Single submitter
- p.Asn160= Single submitter
- p.Glu167= Single submitter
- p.Glu8Gln Single submitter
- p.Leu327= Single submitter
- p.Phe185= Single submitter
- p.Pro145= Single submitter
- p.Pro35= Single submitter
- c.109-11_109-6del No assertion criteria ERI1-related disorder
- c.109-18_109-6del No assertion criteria ERI1-related disorder
- c.582+10C>T No assertion criteria ERI1-related disorder
- c.583-9T>C No assertion criteria ERI1-related disorder
- p.Cys139= No assertion criteria ERI1-related disorder
- p.Pro24Arg No assertion criteria ERI1-related disorder
- p.Tyr109= No assertion criteria ERI1-related disorder
Uncertain significance 77
- p.Ser333Tyr Multiple submitters ⚠
- p.Thr221Ala Multiple submitters ⚠
- p.Ala10Ser Single submitter ⚠
- p.Ala10Thr Single submitter ⚠
- p.Ala13Asp Single submitter ⚠
- p.Ala17Glu Single submitter ⚠
- p.Ala17Ser Single submitter ⚠
- p.Ala58Glu Single submitter ⚠
- p.Arg199Thr Single submitter ⚠
- p.Arg247Ser Single submitter ⚠
- p.Arg261Trp Single submitter ⚠
- p.Arg272Lys Single submitter ⚠
- p.Arg304Gly Single submitter ⚠
- p.Arg304Leu Single submitter ⚠
- p.Arg317Gln Single submitter ⚠
- p.Arg317Ter Single submitter
- p.Arg32Pro Single submitter ⚠
- p.Asn319Ile Single submitter ⚠
- p.Asp168Asn Single submitter ⚠
- p.Asp184His Single submitter ⚠
- p.Asp201Val Single submitter ⚠
- p.Asp289Asn Single submitter ⚠
- p.Asp63His Single submitter ⚠
- p.Cys186Ser Single submitter ⚠
- p.Cys294Arg Single submitter ⚠
- p.Gln172His Single submitter ⚠
- p.Gln205Arg Single submitter ⚠
- p.Gln205Glu Single submitter ⚠
- p.Gln242His Single submitter ⚠
- p.Gln274His Single submitter ⚠
- p.Gln40Pro Single submitter ⚠
- p.Glu320Lys Single submitter ⚠
- p.Gly290Glu Single submitter ⚠
- p.Gly313Glu Single submitter ⚠
- p.His293Arg Single submitter ⚠
- p.His323Gln Single submitter ⚠
- p.His323Tyr Single submitter ⚠
- p.Ile130Val Single submitter ⚠
- p.Ile132Ser Single submitter ⚠
- p.Ile133Thr Single submitter ⚠
- p.Ile260Val Single submitter ⚠
- p.Ile318Met Single submitter ⚠
- p.Leu182Met Single submitter ⚠
- p.Leu316Phe Single submitter ⚠
- p.Lys104Arg Single submitter ⚠
- p.Lys111Glu Single submitter ⚠
- p.Lys215Thr Single submitter ⚠
- p.Lys222Arg Single submitter ⚠
- p.Lys237Asn Single submitter ERI1-related disorder ⚠
- p.Lys269Met Single submitter ⚠
- p.Lys276Thr Single submitter ⚠
- p.Lys321Asn Single submitter ⚠
- p.Lys67Asn Single submitter ⚠
- p.Met286Val Single submitter ⚠
- p.Met309Arg Single submitter ⚠
- p.Phe238Leu Single submitter ⚠
- p.Pro145Ser Single submitter ⚠
- p.Pro252Leu Single submitter ⚠
- p.Pro271Thr Single submitter ⚠
- p.Pro340Leu Single submitter ⚠
- p.Pro4Ser Single submitter ⚠
- p.Pro64Gln Single submitter ⚠
- p.Pro64Leu Single submitter ⚠
- p.Pro64Ser Single submitter ⚠
- p.Pro9Ser Single submitter ⚠
- p.Pro9Thr Single submitter ⚠
- p.Ser236Arg Single submitter ⚠
- p.Ser263Leu Single submitter ⚠
- p.Ser329Asn Single submitter ⚠
- p.Ser56Pro Single submitter ⚠
- p.Ser89Ala Single submitter ⚠
- p.Thr161Met Single submitter ⚠
- p.Thr169Met Single submitter ⚠
- p.Thr278Ala Single submitter ⚠
- p.Thr72Met Single submitter ⚠
- p.Tyr110Cys Single submitter ⚠
- p.Tyr110His Single submitter ⚠