ERGIC3 — 48 ClinVar variants
All ClinVar germline ERGIC3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 38 flagged for review →
1 Likely pathogenic · 2 Benign · 1 Likely benign · 44 Uncertain significance
Full ERGIC3 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 26
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- ERGIC3 p.Arg121Gln Uncertain significance Single submitter
- ERGIC3 p.Arg163Trp Uncertain significance Single submitter
- ERGIC3 p.Arg167Cys Uncertain significance Single submitter
- ERGIC3 p.Asn266Ser Uncertain significance Single submitter
- ERGIC3 p.Asp135Gly Uncertain significance Single submitter
- ERGIC3 p.Asp135His Uncertain significance Single submitter
- ERGIC3 p.Asp152Asn Uncertain significance Single submitter
- ERGIC3 p.Asp87Asn Uncertain significance Single submitter
- ERGIC3 p.Glu293Gln Uncertain significance Single submitter
- ERGIC3 p.Gly186Val Uncertain significance Single submitter
- ERGIC3 p.Gly311Trp Uncertain significance Single submitter
- ERGIC3 p.Gly93Arg Uncertain significance Single submitter
- ERGIC3 p.Ile373Met Uncertain significance Single submitter
- ERGIC3 p.Leu124Val Uncertain significance Single submitter
- ERGIC3 p.Leu36Arg Uncertain significance Single submitter
- ERGIC3 p.Leu50Phe Uncertain significance Single submitter
- ERGIC3 p.Phe341Cys Uncertain significance Single submitter
- ERGIC3 p.Pro176Arg Uncertain significance Single submitter
- ERGIC3 p.Pro329Ser Uncertain significance Single submitter
- ERGIC3 p.Ser221Arg Uncertain significance Single submitter
- ERGIC3 p.Ser364Leu Uncertain significance Single submitter
- ERGIC3 p.Thr130Met Uncertain significance Single submitter
- ERGIC3 p.Thr335Met Uncertain significance Single submitter
- ERGIC3 p.Thr383Met Uncertain significance Single submitter
- ERGIC3 p.Tyr13His Uncertain significance Single submitter
- ERGIC3 p.Tyr245Cys Uncertain significance Single submitter
Predictors split 12
The independent predictors disagree with each other — read with care.
- ERGIC3 p.Arg163Gln Uncertain significance Single submitter
- ERGIC3 p.Arg183Trp Uncertain significance Single submitter
- ERGIC3 p.Asp19Glu Uncertain significance Single submitter
- ERGIC3 p.Glu180Gln Uncertain significance Single submitter
- ERGIC3 p.Gly170Ala Uncertain significance Single submitter
- ERGIC3 p.Ile352Thr Uncertain significance Single submitter
- ERGIC3 p.Ile70Val Uncertain significance Single submitter
- ERGIC3 p.Lys69Asn Uncertain significance Single submitter
- ERGIC3 p.Pro80Ser Uncertain significance Single submitter
- ERGIC3 p.Thr243Asn Uncertain significance Single submitter
- ERGIC3 p.Thr335Arg Uncertain significance Single submitter
- ERGIC3 p.Val207Ile Uncertain significance Single submitter
All ERGIC3 variants
Likely pathogenic 1
- p.Gln277Ter No assertion criteria Developmental disorder
Benign 2
- c.718-4A>G Multiple submitters
- p.Leu295= Multiple submitters
Likely benign 1
- p.Ala269= Single submitter
Uncertain significance 44
- c.686-664G>A Single submitter
- c.717+1G>A Single submitter
- p.Arg121Gln Single submitter ⚠
- p.Arg163Gln Single submitter ⚠
- p.Arg163Trp Single submitter ⚠
- p.Arg167Cys Single submitter ⚠
- p.Arg183Trp Single submitter ⚠
- p.Arg371Ter Single submitter
- p.Asn266Ser Single submitter ⚠
- p.Asp135Gly Single submitter ⚠
- p.Asp135His Single submitter ⚠
- p.Asp152Asn Single submitter ⚠
- p.Asp19Glu Single submitter ⚠
- p.Asp238Gly Single submitter
- p.Asp87Asn Single submitter ⚠
- p.Glu180Gln Single submitter ⚠
- p.Glu293Gln Single submitter ⚠
- p.Gly170Ala Single submitter ⚠
- p.Gly186Val Single submitter ⚠
- p.Gly311Trp Single submitter ⚠
- p.Gly93Arg Single submitter ⚠
- p.Ile352Thr Single submitter ⚠
- p.Ile373Met Single submitter ⚠
- p.Ile377Thr Single submitter
- p.Ile70Val Single submitter ⚠
- p.Leu124Val Single submitter ⚠
- p.Leu36Arg Single submitter ⚠
- p.Leu50Phe Single submitter ⚠
- p.Lys69Asn Single submitter ⚠
- p.Met191Val Single submitter
- p.Phe341Cys Single submitter ⚠
- p.Pro176Arg Single submitter ⚠
- p.Pro329Ser Single submitter ⚠
- p.Pro80Ser Single submitter ⚠
- p.Ser221Arg Single submitter ⚠
- p.Ser364Leu Single submitter ⚠
- p.Thr130Met Single submitter ⚠
- p.Thr243Asn Single submitter ⚠
- p.Thr335Arg Single submitter ⚠
- p.Thr335Met Single submitter ⚠
- p.Thr383Met Single submitter ⚠
- p.Tyr13His Single submitter ⚠
- p.Tyr245Cys Single submitter ⚠
- p.Val207Ile Single submitter ⚠