ERI2 — 90 ClinVar variants
All ClinVar germline ERI2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 82 flagged for review →
9 Likely benign · 81 Uncertain significance
Full ERI2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 82
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 63
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- ERI2 p.Ala102Ser Uncertain significance Single submitter
- ERI2 p.Ala19Val Uncertain significance Single submitter
- ERI2 p.Ala200Val Uncertain significance Single submitter
- ERI2 p.Ala370Pro Uncertain significance Single submitter
- ERI2 p.Ala416Val Uncertain significance Single submitter
- ERI2 p.Ala648Thr Uncertain significance Single submitter
- ERI2 p.Arg15Lys Uncertain significance Single submitter
- ERI2 p.Arg572Cys Uncertain significance Single submitter
- ERI2 p.Asn439Lys Uncertain significance Single submitter
- ERI2 p.Asn48Thr Uncertain significance Single submitter
- ERI2 p.Asn510Ser Uncertain significance Single submitter
- ERI2 p.Asp105Glu Uncertain significance Single submitter
- ERI2 p.Asp181Gly Uncertain significance Single submitter
- ERI2 p.Asp218Asn Uncertain significance Single submitter
- ERI2 p.Asp495His Uncertain significance Single submitter
- ERI2 p.Asp672Glu Uncertain significance Single submitter
- ERI2 p.Cys160Gly Uncertain significance Single submitter
- ERI2 p.Cys165Arg Uncertain significance Single submitter
- ERI2 p.Cys46Tyr Uncertain significance Single submitter
- ERI2 p.Cys633Arg Uncertain significance Single submitter
- ERI2 p.Cys633Tyr Uncertain significance Single submitter
- ERI2 p.Cys671Phe Uncertain significance Single submitter
- ERI2 p.Glu43Gln Uncertain significance Single submitter
- ERI2 p.Gly612Arg Uncertain significance Single submitter
- ERI2 p.Gly625Arg Uncertain significance Single submitter
- ERI2 p.Gly659Glu Uncertain significance Single submitter
- ERI2 p.Gly659Val Uncertain significance Single submitter
- ERI2 p.His122Asn Uncertain significance Single submitter
- ERI2 p.His290Gln Uncertain significance Single submitter
- ERI2 p.Ile131Thr Uncertain significance Single submitter
- ERI2 p.Ile180Thr Uncertain significance Single submitter
- ERI2 p.Ile18Thr Uncertain significance Single submitter
- ERI2 p.Ile670Val Uncertain significance Single submitter
- ERI2 p.Leu176Ser Uncertain significance Single submitter
- ERI2 p.Leu405Met Uncertain significance Single submitter
- ERI2 p.Leu528Phe Uncertain significance Single submitter
- ERI2 p.Leu685Phe Uncertain significance Single submitter
- ERI2 p.Lys355Arg Uncertain significance Single submitter
- ERI2 p.Lys598Arg Uncertain significance Single submitter
- ERI2 p.Lys638Gln Uncertain significance Single submitter
- ERI2 p.Met353Thr Uncertain significance Single submitter
- ERI2 p.Met516Ile Uncertain significance Single submitter
- ERI2 p.Met689Val Uncertain significance Single submitter
- ERI2 p.Phe189Leu Uncertain significance Single submitter
- ERI2 p.Phe509Cys Uncertain significance Single submitter
- ERI2 p.Pro385Ala Uncertain significance Single submitter
- ERI2 p.Pro564Ala Uncertain significance Single submitter
- ERI2 p.Pro83Leu Uncertain significance Single submitter
- ERI2 p.Ser44Leu Uncertain significance Single submitter
- ERI2 p.Ser589Asn Uncertain significance Single submitter
- ERI2 p.Ser589Thr Uncertain significance Single submitter
- ERI2 p.Thr366Ser Uncertain significance Single submitter
- ERI2 p.Thr382Pro Uncertain significance Single submitter
- ERI2 p.Thr386Ile Uncertain significance Single submitter
- ERI2 p.Thr470Ala Uncertain significance Single submitter
- ERI2 p.Thr558Ile Uncertain significance Single submitter
- ERI2 p.Val159Phe Uncertain significance Single submitter
- ERI2 p.Val245Gly Uncertain significance Single submitter
- ERI2 p.Val263Ile Uncertain significance Single submitter
- ERI2 p.Val313Ile Uncertain significance Single submitter
- ERI2 p.Val384Leu Uncertain significance Single submitter
- ERI2 p.Val390Phe Uncertain significance Single submitter
- ERI2 p.Val521Ala Uncertain significance Single submitter
Predictors split 19
The independent predictors disagree with each other — read with care.
- ERI2 p.Ala2Val Uncertain significance Single submitter
- ERI2 p.Ala7Gly Uncertain significance Single submitter
- ERI2 p.Arg220Trp Uncertain significance Single submitter
- ERI2 p.Arg647Thr Uncertain significance Single submitter
- ERI2 p.Arg8Trp Uncertain significance Single submitter
- ERI2 p.Asn67Lys Uncertain significance Single submitter
- ERI2 p.Cys622Tyr Uncertain significance Single submitter
- ERI2 p.Gln84Arg Uncertain significance Single submitter
- ERI2 p.Glu162Ala Uncertain significance Single submitter
- ERI2 p.Glu421Lys Likely benign Single submitter
- ERI2 p.Ser178Tyr Uncertain significance Single submitter
- ERI2 p.Ser241Leu Uncertain significance Single submitter
- ERI2 p.Ser375Leu Uncertain significance Single submitter
- ERI2 p.Ser381Tyr Uncertain significance Single submitter
- ERI2 p.Ser563Cys Uncertain significance Single submitter
- ERI2 p.Thr185Asn Uncertain significance Single submitter
- ERI2 p.Thr70Ile Uncertain significance Single submitter
- ERI2 p.Tyr476Asp Uncertain significance Single submitter
- ERI2 p.Val81Ile Uncertain significance Single submitter
All ERI2 variants
Likely benign 9
- p.Ala141Thr Single submitter
- p.Arg572His Single submitter
- p.Glu421Lys Single submitter ⚠
- p.Ile474Val Single submitter
- p.Ile88Val Single submitter
- p.Leu450Ser Single submitter
- p.Thr426Ile Single submitter
- p.Val384Ile Single submitter
- p.Val423Ile Single submitter
Uncertain significance 81
- p.Ala102Ser Single submitter ⚠
- p.Ala19Val Single submitter ⚠
- p.Ala200Val Single submitter ⚠
- p.Ala2Val Single submitter ⚠
- p.Ala370Pro Single submitter ⚠
- p.Ala416Val Single submitter ⚠
- p.Ala648Thr Single submitter ⚠
- p.Ala7Gly Single submitter ⚠
- p.Arg15Lys Single submitter ⚠
- p.Arg220Trp Single submitter ⚠
- p.Arg572Cys Single submitter ⚠
- p.Arg647Thr Single submitter ⚠
- p.Arg8Trp Single submitter ⚠
- p.Asn439Lys Single submitter ⚠
- p.Asn48Thr Single submitter ⚠
- p.Asn510Ser Single submitter ⚠
- p.Asn67Lys Single submitter ⚠
- p.Asp105Glu Single submitter ⚠
- p.Asp181Gly Single submitter ⚠
- p.Asp218Asn Single submitter ⚠
- p.Asp495His Single submitter ⚠
- p.Asp672Glu Single submitter ⚠
- p.Cys160Gly Single submitter ⚠
- p.Cys165Arg Single submitter ⚠
- p.Cys46Tyr Single submitter ⚠
- p.Cys622Tyr Single submitter ⚠
- p.Cys633Arg Single submitter ⚠
- p.Cys633Tyr Single submitter ⚠
- p.Cys671Phe Single submitter ⚠
- p.Gln84Arg Single submitter ⚠
- p.Glu162Ala Single submitter ⚠
- p.Glu43Gln Single submitter ⚠
- p.Gly612Arg Single submitter ⚠
- p.Gly625Arg Single submitter ⚠
- p.Gly659Glu Single submitter ⚠
- p.Gly659Val Single submitter ⚠
- p.His122Asn Single submitter ⚠
- p.His290Gln Single submitter ⚠
- p.Ile131Thr Single submitter ⚠
- p.Ile180Thr Single submitter ⚠
- p.Ile18Thr Single submitter ⚠
- p.Ile670Val Single submitter ⚠
- p.Leu176Ser Single submitter ⚠
- p.Leu405Met Single submitter ⚠
- p.Leu528Phe Single submitter ⚠
- p.Leu685Phe Single submitter ⚠
- p.Lys355Arg Single submitter ⚠
- p.Lys598Arg Single submitter ⚠
- p.Lys638Gln Single submitter ⚠
- p.Met353Thr Single submitter ⚠
- p.Met516Ile Single submitter ⚠
- p.Met689Val Single submitter ⚠
- p.Phe189Leu Single submitter ⚠
- p.Phe509Cys Single submitter ⚠
- p.Pro385Ala Single submitter ⚠
- p.Pro564Ala Single submitter ⚠
- p.Pro83Leu Single submitter ⚠
- p.Ser178Tyr Single submitter ⚠
- p.Ser241Leu Single submitter ⚠
- p.Ser375Leu Single submitter ⚠
- p.Ser381Tyr Single submitter ⚠
- p.Ser44Leu Single submitter ⚠
- p.Ser563Cys Single submitter ⚠
- p.Ser589Asn Single submitter ⚠
- p.Ser589Thr Single submitter ⚠
- p.Thr185Asn Single submitter ⚠
- p.Thr366Ser Single submitter ⚠
- p.Thr382Pro Single submitter ⚠
- p.Thr386Ile Single submitter ⚠
- p.Thr470Ala Single submitter ⚠
- p.Thr558Ile Single submitter ⚠
- p.Thr70Ile Single submitter ⚠
- p.Tyr476Asp Single submitter ⚠
- p.Val159Phe Single submitter ⚠
- p.Val245Gly Single submitter ⚠
- p.Val263Ile Single submitter ⚠
- p.Val313Ile Single submitter ⚠
- p.Val384Leu Single submitter ⚠
- p.Val390Phe Single submitter ⚠
- p.Val521Ala Single submitter ⚠
- p.Val81Ile Single submitter ⚠