ERP44 — 39 ClinVar variants
All ClinVar germline ERP44 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 38 flagged for review →
1 Likely benign · 38 Uncertain significance
Full ERP44 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 38
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 22
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- ERP44 p.Ala370Thr Uncertain significance Single submitter
- ERP44 p.Arg180Gln Uncertain significance Single submitter
- ERP44 p.Asn162Tyr Uncertain significance Single submitter
- ERP44 p.Asn208His Uncertain significance Single submitter
- ERP44 p.Asn44Ser Uncertain significance Single submitter
- ERP44 p.Asn45Ser Uncertain significance Single submitter
- ERP44 p.Asp142Glu Uncertain significance Single submitter
- ERP44 p.Asp302Glu Uncertain significance Single submitter
- ERP44 p.Glu82Lys Uncertain significance Single submitter
- ERP44 p.Gly333Arg Uncertain significance Single submitter
- ERP44 p.Ile163Thr Uncertain significance Single submitter
- ERP44 p.Ile340Thr Uncertain significance Single submitter
- ERP44 p.Leu339Ile Uncertain significance Single submitter
- ERP44 p.Leu9Ser Uncertain significance Single submitter
- ERP44 p.Lys111Arg Uncertain significance Single submitter
- ERP44 p.Lys160Arg Uncertain significance Single submitter
- ERP44 p.Phe167Leu Uncertain significance Single submitter
- ERP44 p.Phe296Cys Uncertain significance Single submitter
- ERP44 p.Ser105Asn Uncertain significance Single submitter
- ERP44 p.Ser205Gly Uncertain significance Single submitter
- ERP44 p.Ser381Asn Uncertain significance Single submitter
- ERP44 p.Thr25Ile Uncertain significance Single submitter
Predictors split 16
The independent predictors disagree with each other — read with care.
- ERP44 p.Ala194Ser Uncertain significance Single submitter
- ERP44 p.Arg158Leu Uncertain significance Single submitter
- ERP44 p.Arg285Trp Uncertain significance Single submitter
- ERP44 p.Arg403Gln Uncertain significance Single submitter
- ERP44 p.Arg59Gly Uncertain significance Single submitter
- ERP44 p.Asn83Ser Uncertain significance Single submitter
- ERP44 p.Asp197His Uncertain significance Single submitter
- ERP44 p.Asp207Asn Uncertain significance Single submitter
- ERP44 p.His352Tyr Uncertain significance Single submitter
- ERP44 p.Ile288Lys Uncertain significance Single submitter
- ERP44 p.Leu12Phe Uncertain significance Single submitter
- ERP44 p.Lys160Glu Uncertain significance Single submitter
- ERP44 p.Phe230Leu Uncertain significance Single submitter
- ERP44 p.Pro219Leu Uncertain significance Single submitter
- ERP44 p.Thr154Ile Uncertain significance Single submitter
- ERP44 p.Val348Ile Uncertain significance Single submitter
All ERP44 variants
Likely benign 1
- p.Asp73Asn Single submitter
Uncertain significance 38
- p.Ala194Ser Single submitter ⚠
- p.Ala370Thr Single submitter ⚠
- p.Arg158Leu Single submitter ⚠
- p.Arg180Gln Single submitter ⚠
- p.Arg285Trp Single submitter ⚠
- p.Arg403Gln Single submitter ⚠
- p.Arg59Gly Single submitter ⚠
- p.Asn162Tyr Single submitter ⚠
- p.Asn208His Single submitter ⚠
- p.Asn44Ser Single submitter ⚠
- p.Asn45Ser Single submitter ⚠
- p.Asn83Ser Single submitter ⚠
- p.Asp142Glu Single submitter ⚠
- p.Asp197His Single submitter ⚠
- p.Asp207Asn Single submitter ⚠
- p.Asp302Glu Single submitter ⚠
- p.Glu82Lys Single submitter ⚠
- p.Gly333Arg Single submitter ⚠
- p.His352Tyr Single submitter ⚠
- p.Ile163Thr Single submitter ⚠
- p.Ile288Lys Single submitter ⚠
- p.Ile340Thr Single submitter ⚠
- p.Leu12Phe Single submitter ⚠
- p.Leu339Ile Single submitter ⚠
- p.Leu9Ser Single submitter ⚠
- p.Lys111Arg Single submitter ⚠
- p.Lys160Arg Single submitter ⚠
- p.Lys160Glu Single submitter ⚠
- p.Phe167Leu Single submitter ⚠
- p.Phe230Leu Single submitter ⚠
- p.Phe296Cys Single submitter ⚠
- p.Pro219Leu Single submitter ⚠
- p.Ser105Asn Single submitter ⚠
- p.Ser205Gly Single submitter ⚠
- p.Ser381Asn Single submitter ⚠
- p.Thr154Ile Single submitter ⚠
- p.Thr25Ile Single submitter ⚠
- p.Val348Ile Single submitter ⚠