ERI3 — 23 ClinVar variants
All ClinVar germline ERI3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 23 flagged for review →
23 Uncertain significance
Full ERI3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 23
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 20
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- ERI3 p.Ala229Val Uncertain significance Single submitter
- ERI3 p.Ala74Ser Uncertain significance Single submitter
- ERI3 p.Arg176Gln Uncertain significance Single submitter
- ERI3 p.Arg326Gln Uncertain significance Single submitter
- ERI3 p.Asp73Gly Uncertain significance Single submitter
- ERI3 p.Glu226Gly Uncertain significance Single submitter
- ERI3 p.Gly232Asp Uncertain significance Single submitter
- ERI3 p.Gly309Ser Uncertain significance Single submitter
- ERI3 p.Gly64Asp Uncertain significance Single submitter
- ERI3 p.Gly76Glu Uncertain significance Single submitter
- ERI3 p.His105Arg Uncertain significance Single submitter
- ERI3 p.His161Tyr Uncertain significance Single submitter
- ERI3 p.Ile207Val Uncertain significance Single submitter
- ERI3 p.Pro55Arg Uncertain significance Single submitter
- ERI3 p.Ser104Phe Uncertain significance Single submitter
- ERI3 p.Ser22Phe Uncertain significance Single submitter
- ERI3 p.Thr120Ser Uncertain significance Single submitter
- ERI3 p.Thr30Ser Uncertain significance Single submitter
- ERI3 p.Val21Gly Uncertain significance Single submitter
- ERI3 p.Val238Ile Uncertain significance Single submitter
Predictors split 3
The independent predictors disagree with each other — read with care.
All ERI3 variants
Uncertain significance 23
- p.Ala229Val Single submitter ⚠
- p.Ala74Ser Single submitter ⚠
- p.Arg176Gln Single submitter ⚠
- p.Arg326Gln Single submitter ⚠
- p.Asp156Asn Single submitter ⚠
- p.Asp73Gly Single submitter ⚠
- p.Glu17Lys Single submitter ⚠
- p.Glu226Gly Single submitter ⚠
- p.Gly127Asp Single submitter ⚠
- p.Gly232Asp Single submitter ⚠
- p.Gly309Ser Single submitter ⚠
- p.Gly64Asp Single submitter ⚠
- p.Gly76Glu Single submitter ⚠
- p.His105Arg Single submitter ⚠
- p.His161Tyr Single submitter ⚠
- p.Ile207Val Single submitter ⚠
- p.Pro55Arg Single submitter ⚠
- p.Ser104Phe Single submitter ⚠
- p.Ser22Phe Single submitter ⚠
- p.Thr120Ser Single submitter ⚠
- p.Thr30Ser Single submitter ⚠
- p.Val21Gly Single submitter ⚠
- p.Val238Ile Single submitter ⚠