ERO1B — 66 ClinVar variants
All ClinVar germline ERO1B variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 59 flagged for review →
1 Benign · 2 Likely benign · 63 Uncertain significance
Full ERO1B gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 59
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 48
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- ERO1B p.Ala10Ser Uncertain significance Single submitter
- ERO1B p.Ala15Gly Uncertain significance Single submitter
-
ERO1B p.Ala221Val
Uncertain significance
Single submitter
Developmental cataract
- ERO1B p.Ala337Val Uncertain significance Single submitter
- ERO1B p.Ala33Thr Uncertain significance Single submitter
- ERO1B p.Ala8Thr Uncertain significance Single submitter
- ERO1B p.Ala8Val Uncertain significance Single submitter
- ERO1B p.Arg161Trp Uncertain significance Single submitter
- ERO1B p.Arg197Gly Uncertain significance Single submitter
- ERO1B p.Arg79Pro Uncertain significance Single submitter
- ERO1B p.Asn123Ser Uncertain significance Single submitter
- ERO1B p.Asn51Ser Uncertain significance Single submitter
- ERO1B p.Asp327Gly Uncertain significance Single submitter
- ERO1B p.Asp87Gly Uncertain significance Single submitter
- ERO1B p.Cys390Tyr Uncertain significance Single submitter
- ERO1B p.Cys90Arg Uncertain significance Single submitter
- ERO1B p.Gln34Pro Uncertain significance Single submitter
- ERO1B p.Gln3Pro Uncertain significance Single submitter
- ERO1B p.Gln403Lys Uncertain significance Single submitter
- ERO1B p.Gln405Pro Uncertain significance Single submitter
- ERO1B p.Glu226Lys Uncertain significance Single submitter
- ERO1B p.Glu32Val Uncertain significance Single submitter
- ERO1B p.Glu438Gly Uncertain significance Single submitter
- ERO1B p.Gly13Arg Uncertain significance Single submitter
- ERO1B p.Gly252Glu Uncertain significance Single submitter
- ERO1B p.His89Gln Uncertain significance Single submitter
- ERO1B p.Ile139Val Uncertain significance Single submitter
- ERO1B p.Ile250Val Uncertain significance Single submitter
- ERO1B p.Ile325Val Uncertain significance Single submitter
- ERO1B p.Ile453Val Uncertain significance Single submitter
- ERO1B p.Ile46Thr Uncertain significance Single submitter
- ERO1B p.Leu328Val Uncertain significance Single submitter
- ERO1B p.Leu342Pro Uncertain significance Single submitter
- ERO1B p.Leu343Pro Uncertain significance Single submitter
- ERO1B p.Leu411Gln Uncertain significance Single submitter
- ERO1B p.Lys135Thr Uncertain significance Single submitter
- ERO1B p.Lys63Gln Uncertain significance Single submitter
- ERO1B p.Lys93Thr Uncertain significance Single submitter
- ERO1B p.Pro101Ala Uncertain significance Single submitter
- ERO1B p.Pro99Arg Uncertain significance Single submitter
- ERO1B p.Ser275Gly Uncertain significance Single submitter
- ERO1B p.Ser29Asn Uncertain significance Single submitter
- ERO1B p.Ser416Ala Uncertain significance Single submitter
- ERO1B p.Thr124Ala Uncertain significance Single submitter
- ERO1B p.Thr330Ala Uncertain significance Single submitter
- ERO1B p.Thr339Ala Uncertain significance Single submitter
- ERO1B p.Tyr307Cys Uncertain significance Single submitter
- ERO1B p.Tyr69Cys Uncertain significance Single submitter
Predictors split 11
The independent predictors disagree with each other — read with care.
- ERO1B p.Arg215Cys Uncertain significance Single submitter
- ERO1B p.Arg215His Uncertain significance Single submitter
- ERO1B p.Asp45Glu Uncertain significance Single submitter
- ERO1B p.Gly365Asp Uncertain significance Single submitter
- ERO1B p.His254Arg Uncertain significance Single submitter
- ERO1B p.Leu342Arg Uncertain significance Single submitter
- ERO1B p.Phe283Leu Uncertain significance Single submitter
- ERO1B p.Phe415Leu Uncertain significance Single submitter
- ERO1B p.Phe459Leu Uncertain significance Single submitter
- ERO1B p.Ser416Tyr Uncertain significance Single submitter
- ERO1B p.Thr142Ile Uncertain significance Single submitter
All ERO1B variants
Benign 1
- p.Ser466Gly Multiple submitters
Likely benign 2
- p.Arg161Gln Single submitter
- p.Lys63Asn Single submitter
Uncertain significance 63
- p.Ala10Ser Single submitter ⚠
- p.Ala15Gly Single submitter ⚠
- p.Ala221Val Single submitter Developmental cataract ⚠
- p.Ala337Val Single submitter ⚠
- p.Ala33Thr Single submitter ⚠
- p.Ala8Thr Single submitter ⚠
- p.Ala8Val Single submitter ⚠
- p.Arg161Trp Single submitter ⚠
- p.Arg197Gly Single submitter ⚠
- p.Arg215Cys Single submitter ⚠
- p.Arg215His Single submitter ⚠
- p.Arg286His Single submitter
- p.Arg386Cys Single submitter
- p.Arg71His Single submitter
- p.Arg79Pro Single submitter ⚠
- p.Asn123Ser Single submitter ⚠
- p.Asn51Ser Single submitter ⚠
- p.Asp327Gly Single submitter ⚠
- p.Asp45Glu Single submitter ⚠
- p.Asp87Gly Single submitter ⚠
- p.Cys390Tyr Single submitter ⚠
- p.Cys90Arg Single submitter ⚠
- p.Gln34Pro Single submitter ⚠
- p.Gln3Pro Single submitter ⚠
- p.Gln403Lys Single submitter ⚠
- p.Gln405Pro Single submitter ⚠
- p.Glu226Lys Single submitter ⚠
- p.Glu310Ala Single submitter
- p.Glu32Val Single submitter ⚠
- p.Glu438Gly Single submitter ⚠
- p.Gly13Arg Single submitter ⚠
- p.Gly252Glu Single submitter ⚠
- p.Gly365Asp Single submitter ⚠
- p.His254Arg Single submitter ⚠
- p.His89Gln Single submitter ⚠
- p.Ile139Val Single submitter ⚠
- p.Ile250Val Single submitter ⚠
- p.Ile325Val Single submitter ⚠
- p.Ile453Val Single submitter ⚠
- p.Ile46Thr Single submitter ⚠
- p.Leu328Val Single submitter ⚠
- p.Leu342Arg Single submitter ⚠
- p.Leu342Pro Single submitter ⚠
- p.Leu343Pro Single submitter ⚠
- p.Leu411Gln Single submitter ⚠
- p.Lys135Thr Single submitter ⚠
- p.Lys63Gln Single submitter ⚠
- p.Lys93Thr Single submitter ⚠
- p.Phe283Leu Single submitter ⚠
- p.Phe415Leu Single submitter ⚠
- p.Phe459Leu Single submitter ⚠
- p.Pro101Ala Single submitter ⚠
- p.Pro99Arg Single submitter ⚠
- p.Ser275Gly Single submitter ⚠
- p.Ser29Asn Single submitter ⚠
- p.Ser416Ala Single submitter ⚠
- p.Ser416Tyr Single submitter ⚠
- p.Thr124Ala Single submitter ⚠
- p.Thr142Ile Single submitter ⚠
- p.Thr330Ala Single submitter ⚠
- p.Thr339Ala Single submitter ⚠
- p.Tyr307Cys Single submitter ⚠
- p.Tyr69Cys Single submitter ⚠