ERP29 — 38 ClinVar variants
All ClinVar germline ERP29 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 36 flagged for review →
2 Likely benign · 36 Uncertain significance
Full ERP29 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 36
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 17
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- ERP29 p.Ser80Leu Uncertain significance Multiple submitters
- ERP29 p.Ala218Thr Uncertain significance Single submitter
- ERP29 p.Ala9Ser Uncertain significance Single submitter
- ERP29 p.Asp61Asn Uncertain significance Single submitter
- ERP29 p.Asp84Asn Uncertain significance Single submitter
- ERP29 p.Glu239Asp Uncertain significance Single submitter
- ERP29 p.Glu257Lys Uncertain significance Single submitter
- ERP29 p.Gly207Arg Uncertain significance Single submitter
- ERP29 p.Gly20Ser Uncertain significance Single submitter
- ERP29 p.His34Tyr Uncertain significance Single submitter
- ERP29 p.Leu11Arg Uncertain significance Single submitter
- ERP29 p.Lys230Asn Uncertain significance Single submitter
- ERP29 p.Phe251Tyr Uncertain significance Single submitter
- ERP29 p.Pro13Ser Uncertain significance Single submitter
- ERP29 p.Tyr161His Uncertain significance Single submitter
- ERP29 p.Val130Leu Uncertain significance Single submitter
- ERP29 p.Val88Ala Uncertain significance Single submitter
Predictors split 19
The independent predictors disagree with each other — read with care.
- ERP29 p.Ala2Val Uncertain significance Single submitter
- ERP29 p.Ala3Thr Uncertain significance Single submitter
- ERP29 p.Arg177His Uncertain significance Single submitter
- ERP29 p.Gln183His Uncertain significance Single submitter
- ERP29 p.Gln63Pro Uncertain significance Single submitter
- ERP29 p.Glu214Lys Uncertain significance Single submitter
- ERP29 p.Gly134Glu Uncertain significance Single submitter
- ERP29 p.Gly149Ala Uncertain significance Single submitter
- ERP29 p.Gly184Arg Uncertain significance Single submitter
- ERP29 p.Leu104Met Uncertain significance Single submitter
- ERP29 p.Leu120Phe Uncertain significance Single submitter
- ERP29 p.Leu17Pro Uncertain significance Single submitter
- ERP29 p.Leu210Ser Uncertain significance Single submitter
- ERP29 p.Leu24Phe Uncertain significance Single submitter
- ERP29 p.Pro16Arg Uncertain significance Single submitter
- ERP29 p.Pro6Thr Uncertain significance Single submitter
- ERP29 p.Ser83Gly Uncertain significance Single submitter
- ERP29 p.Val56Ala Uncertain significance Single submitter
- ERP29 p.Val5Met Uncertain significance Single submitter
All ERP29 variants
Likely benign 2
- p.Ala225Thr Single submitter
- p.Tyr96= Single submitter
Uncertain significance 36
- p.Ser80Leu Multiple submitters ⚠
- p.Ala218Thr Single submitter ⚠
- p.Ala2Val Single submitter ⚠
- p.Ala3Thr Single submitter ⚠
- p.Ala9Ser Single submitter ⚠
- p.Arg177His Single submitter ⚠
- p.Asp61Asn Single submitter ⚠
- p.Asp84Asn Single submitter ⚠
- p.Gln183His Single submitter ⚠
- p.Gln63Pro Single submitter ⚠
- p.Glu214Lys Single submitter ⚠
- p.Glu239Asp Single submitter ⚠
- p.Glu257Lys Single submitter ⚠
- p.Gly134Glu Single submitter ⚠
- p.Gly149Ala Single submitter ⚠
- p.Gly184Arg Single submitter ⚠
- p.Gly207Arg Single submitter ⚠
- p.Gly20Ser Single submitter ⚠
- p.His34Tyr Single submitter ⚠
- p.Leu104Met Single submitter ⚠
- p.Leu11Arg Single submitter ⚠
- p.Leu120Phe Single submitter ⚠
- p.Leu17Pro Single submitter ⚠
- p.Leu210Ser Single submitter ⚠
- p.Leu24Phe Single submitter ⚠
- p.Lys230Asn Single submitter ⚠
- p.Phe251Tyr Single submitter ⚠
- p.Pro13Ser Single submitter ⚠
- p.Pro16Arg Single submitter ⚠
- p.Pro6Thr Single submitter ⚠
- p.Ser83Gly Single submitter ⚠
- p.Tyr161His Single submitter ⚠
- p.Val130Leu Single submitter ⚠
- p.Val56Ala Single submitter ⚠
- p.Val5Met Single submitter ⚠
- p.Val88Ala Single submitter ⚠