ERP27 — 46 ClinVar variants
All ClinVar germline ERP27 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 44 flagged for review →
1 Likely benign · 45 Uncertain significance
Full ERP27 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 44
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 37
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- ERP27 p.Ala36Thr Uncertain significance Single submitter
- ERP27 p.Ala48Val Uncertain significance Single submitter
- ERP27 p.Ala59Thr Uncertain significance Single submitter
- ERP27 p.Arg134His Uncertain significance Single submitter
- ERP27 p.Arg262Cys Uncertain significance Single submitter
- ERP27 p.Arg7Lys Uncertain significance Single submitter
- ERP27 p.Asp229Gly Uncertain significance Single submitter
- ERP27 p.Asp230Asn Uncertain significance Single submitter
- ERP27 p.Glu137Lys Uncertain significance Single submitter
- ERP27 p.Glu263Asp Uncertain significance Single submitter
- ERP27 p.Glu26Lys Uncertain significance Single submitter
- ERP27 p.Gly103Glu Uncertain significance Single submitter
- ERP27 p.Gly201Ala Uncertain significance Single submitter
- ERP27 p.Gly201Asp Uncertain significance Single submitter
- ERP27 p.Gly206Arg Uncertain significance Single submitter
- ERP27 p.Ile61Met Uncertain significance Single submitter
- ERP27 p.Ile74Thr Uncertain significance Single submitter
- ERP27 p.Leu164His Uncertain significance Single submitter
- ERP27 p.Leu164Ile Uncertain significance Single submitter
- ERP27 p.Leu253Val Uncertain significance Single submitter
- ERP27 p.Leu75Ile Uncertain significance Single submitter
- ERP27 p.Lys267Arg Uncertain significance Single submitter
- ERP27 p.Lys267Asn Uncertain significance Single submitter
- ERP27 p.Lys81Ile Uncertain significance Single submitter
- ERP27 p.Met78Thr Uncertain significance Single submitter
- ERP27 p.Met78Val Uncertain significance Single submitter
- ERP27 p.Phe109Leu Uncertain significance Single submitter
- ERP27 p.Pro236His Uncertain significance Single submitter
- ERP27 p.Pro236Thr Uncertain significance Single submitter
- ERP27 p.Thr56Ser Uncertain significance Single submitter
- ERP27 p.Tyr99His Uncertain significance Single submitter
- ERP27 p.Val23Ile Uncertain significance Single submitter
- ERP27 p.Val242Ala Uncertain significance Single submitter
- ERP27 p.Val242Leu Uncertain significance Single submitter
- ERP27 p.Val271Leu Uncertain significance Single submitter
- ERP27 p.Val46Ala Uncertain significance Single submitter
- ERP27 p.Val79Gly Uncertain significance Single submitter
Predictors split 7
The independent predictors disagree with each other — read with care.
- ERP27 p.Arg134Cys Uncertain significance Single submitter
- ERP27 p.Asp199His Uncertain significance Single submitter
- ERP27 p.Ile167Lys Uncertain significance Single submitter
- ERP27 p.Ile167Thr Uncertain significance Single submitter
- ERP27 p.Leu273Pro Uncertain significance Single submitter
- ERP27 p.Phe156Leu Uncertain significance Single submitter
- ERP27 p.Thr237Arg Uncertain significance Single submitter
All ERP27 variants
Likely benign 1
- p.Ile124Thr Single submitter
Uncertain significance 45
- p.Ala36Thr Single submitter ⚠
- p.Ala48Val Single submitter ⚠
- p.Ala59Thr Single submitter ⚠
- p.Arg110Cys Single submitter
- p.Arg134Cys Single submitter ⚠
- p.Arg134His Single submitter ⚠
- p.Arg262Cys Single submitter ⚠
- p.Arg7Lys Single submitter ⚠
- p.Asp199His Single submitter ⚠
- p.Asp229Gly Single submitter ⚠
- p.Asp230Asn Single submitter ⚠
- p.Glu137Lys Single submitter ⚠
- p.Glu263Asp Single submitter ⚠
- p.Glu26Lys Single submitter ⚠
- p.Gly103Glu Single submitter ⚠
- p.Gly201Ala Single submitter ⚠
- p.Gly201Asp Single submitter ⚠
- p.Gly206Arg Single submitter ⚠
- p.Ile167Lys Single submitter ⚠
- p.Ile167Thr Single submitter ⚠
- p.Ile61Met Single submitter ⚠
- p.Ile74Thr Single submitter ⚠
- p.Leu164His Single submitter ⚠
- p.Leu164Ile Single submitter ⚠
- p.Leu253Val Single submitter ⚠
- p.Leu273Pro Single submitter ⚠
- p.Leu75Ile Single submitter ⚠
- p.Lys267Arg Single submitter ⚠
- p.Lys267Asn Single submitter ⚠
- p.Lys81Ile Single submitter ⚠
- p.Met78Thr Single submitter ⚠
- p.Met78Val Single submitter ⚠
- p.Phe109Leu Single submitter ⚠
- p.Phe156Leu Single submitter ⚠
- p.Pro236His Single submitter ⚠
- p.Pro236Thr Single submitter ⚠
- p.Thr237Arg Single submitter ⚠
- p.Thr56Ser Single submitter ⚠
- p.Tyr99His Single submitter ⚠
- p.Val23Ile Single submitter ⚠
- p.Val242Ala Single submitter ⚠
- p.Val242Leu Single submitter ⚠
- p.Val271Leu Single submitter ⚠
- p.Val46Ala Single submitter ⚠
- p.Val79Gly Single submitter ⚠