ERN2 — 66 ClinVar variants
All ClinVar germline ERN2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 51 flagged for review →
2 Benign · 9 Likely benign · 55 Uncertain significance
Full ERN2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 51
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 29
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- ERN2 p.Ala22Val Uncertain significance Single submitter
- ERN2 p.Ala318Asp Uncertain significance Single submitter
- ERN2 p.Ala395Val Uncertain significance Single submitter
- ERN2 p.Ala4Thr Uncertain significance Single submitter
- ERN2 p.Ala760Thr Uncertain significance Single submitter
- ERN2 p.Ala80Thr Uncertain significance Single submitter
- ERN2 p.Arg868Gln Uncertain significance Single submitter
- ERN2 p.Asp412Asn Uncertain significance Single submitter
- ERN2 p.Cys204Ser Uncertain significance Single submitter
- ERN2 p.Gln462Arg Uncertain significance Single submitter
- ERN2 p.Gln511Lys Uncertain significance Single submitter
- ERN2 p.Gln880Glu Uncertain significance Single submitter
- ERN2 p.Gln98Lys Uncertain significance Single submitter
- ERN2 p.Glu862Lys Uncertain significance Single submitter
- ERN2 p.Gly307Glu Uncertain significance Single submitter
- ERN2 p.Gly429Arg Uncertain significance Single submitter
- ERN2 p.Gly685Arg Uncertain significance Single submitter
- ERN2 p.Gly925Glu Uncertain significance Single submitter
- ERN2 p.His677Arg Uncertain significance Single submitter
- ERN2 p.His677Gln Uncertain significance Single submitter
- ERN2 p.Ile680Met Uncertain significance Single submitter
- ERN2 p.Leu285Val Uncertain significance Single submitter
- ERN2 p.Phe399Cys Uncertain significance Single submitter
- ERN2 p.Pro319Ser Uncertain significance Single submitter
- ERN2 p.Pro354Gln Uncertain significance Single submitter
- ERN2 p.Pro367Ala Uncertain significance Single submitter
- ERN2 p.Pro85Thr Uncertain significance Single submitter
- ERN2 p.Pro887Ser Uncertain significance Single submitter
- ERN2 p.Val515Glu Uncertain significance Single submitter
Predictors split 22
The independent predictors disagree with each other — read with care.
- ERN2 p.Val69Ile Benign Multiple submitters
- ERN2 p.Arg576His Uncertain significance Single submitter
- ERN2 p.Asp834Ala Uncertain significance Single submitter
- ERN2 p.Gln787Glu Uncertain significance Single submitter
- ERN2 p.Glu553Gln Uncertain significance Single submitter
- ERN2 p.Glu553Lys Uncertain significance Single submitter
- ERN2 p.Glu903Val Uncertain significance Single submitter
- ERN2 p.Gly26Glu Uncertain significance Single submitter
- ERN2 p.Gly583Arg Uncertain significance Single submitter
- ERN2 p.His33Tyr Uncertain significance Single submitter
- ERN2 p.His778Tyr Uncertain significance Single submitter
- ERN2 p.Leu428Met Uncertain significance Single submitter
- ERN2 p.Leu551Phe Uncertain significance Single submitter
- ERN2 p.Leu64Gln Uncertain significance Single submitter
- ERN2 p.Lys837Thr Uncertain significance Single submitter
- ERN2 p.Pro155Leu Uncertain significance Single submitter
- ERN2 p.Ser203Cys Uncertain significance Single submitter
- ERN2 p.Thr222Ile Uncertain significance Single submitter
- ERN2 p.Thr736Ile Uncertain significance Single submitter
- ERN2 p.Tyr346Cys Uncertain significance Single submitter
- ERN2 p.Val794Ile Uncertain significance Single submitter
- ERN2 p.Val865Ile Uncertain significance Single submitter
All ERN2 variants
Benign 2
- p.Val69Ile Multiple submitters ⚠
- p.Phe472= Single submitter
Likely benign 9
Uncertain significance 55
- p.Arg868Ter Multiple submitters
- p.Ala22Val Single submitter ⚠
- p.Ala318Asp Single submitter ⚠
- p.Ala395Val Single submitter ⚠
- p.Ala4Thr Single submitter ⚠
- p.Ala760Thr Single submitter ⚠
- p.Ala80Thr Single submitter ⚠
- p.Arg576His Single submitter ⚠
- p.Arg868Gln Single submitter ⚠
- p.Asp412Asn Single submitter ⚠
- p.Asp834Ala Single submitter ⚠
- p.Cys204Ser Single submitter ⚠
- p.Gln462Arg Single submitter ⚠
- p.Gln511Lys Single submitter ⚠
- p.Gln620Ter Single submitter
- p.Gln787Glu Single submitter ⚠
- p.Gln880Glu Single submitter ⚠
- p.Gln98Lys Single submitter ⚠
- p.Glu553Gln Single submitter ⚠
- p.Glu553Lys Single submitter ⚠
- p.Glu862Lys Single submitter ⚠
- p.Glu903Val Single submitter ⚠
- p.Gly26Glu Single submitter ⚠
- p.Gly307Glu Single submitter ⚠
- p.Gly429Arg Single submitter ⚠
- p.Gly583Arg Single submitter ⚠
- p.Gly685Arg Single submitter ⚠
- p.Gly925Glu Single submitter ⚠
- p.His33Tyr Single submitter ⚠
- p.His677Arg Single submitter ⚠
- p.His677Gln Single submitter ⚠
- p.His778Tyr Single submitter ⚠
- p.Ile680Met Single submitter ⚠
- p.Leu176= Single submitter
- p.Leu248= Single submitter
- p.Leu285Val Single submitter ⚠
- p.Leu428Met Single submitter ⚠
- p.Leu551Phe Single submitter ⚠
- p.Leu64Gln Single submitter ⚠
- p.Leu653= Single submitter
- p.Lys837Thr Single submitter ⚠
- p.Phe399Cys Single submitter ⚠
- p.Pro155Leu Single submitter ⚠
- p.Pro319Ser Single submitter ⚠
- p.Pro354Gln Single submitter ⚠
- p.Pro367Ala Single submitter ⚠
- p.Pro85Thr Single submitter ⚠
- p.Pro887Ser Single submitter ⚠
- p.Ser203Cys Single submitter ⚠
- p.Thr222Ile Single submitter ⚠
- p.Thr736Ile Single submitter ⚠
- p.Tyr346Cys Single submitter ⚠
- p.Val515Glu Single submitter ⚠
- p.Val794Ile Single submitter ⚠
- p.Val865Ile Single submitter ⚠