ERGIC2 — 44 ClinVar variants
All ClinVar germline ERGIC2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 41 flagged for review →
1 Pathogenic · 2 Likely benign · 41 Uncertain significance
Full ERGIC2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 41
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 32
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- ERGIC2 p.Ala240Ser Uncertain significance Single submitter
- ERGIC2 p.Arg277Pro Uncertain significance Single submitter
- ERGIC2 p.Arg346His Uncertain significance Single submitter
- ERGIC2 p.Asn179Ser Uncertain significance Single submitter
- ERGIC2 p.Asn356Ser Uncertain significance Single submitter
- ERGIC2 p.Asn375Ser Uncertain significance Single submitter
- ERGIC2 p.Asp162Asn Uncertain significance Single submitter
- ERGIC2 p.Gln313Arg Uncertain significance Single submitter
- ERGIC2 p.Gln56His Uncertain significance Single submitter
- ERGIC2 p.Gly284Asp Uncertain significance Single submitter
- ERGIC2 p.Gly323Glu Uncertain significance Single submitter
- ERGIC2 p.His173Tyr Uncertain significance Single submitter
- ERGIC2 p.His195Tyr Uncertain significance Single submitter
- ERGIC2 p.His377Arg Uncertain significance Single submitter
- ERGIC2 p.Ile229Phe Uncertain significance Single submitter
- ERGIC2 p.Ile230Val Uncertain significance Single submitter
- ERGIC2 p.Ile239Val Uncertain significance Single submitter
- ERGIC2 p.Ile49Val Uncertain significance Single submitter
- ERGIC2 p.Lys262Glu Uncertain significance Single submitter
- ERGIC2 p.Met331Leu Uncertain significance Single submitter
- ERGIC2 p.Phe360Ser Uncertain significance Single submitter
- ERGIC2 p.Pro194Ala Uncertain significance Single submitter
- ERGIC2 p.Pro354Ser Uncertain significance Single submitter
- ERGIC2 p.Pro370Ser Uncertain significance Single submitter
- ERGIC2 p.Ser153Leu Uncertain significance Single submitter
- ERGIC2 p.Ser25Asn Uncertain significance Single submitter
- ERGIC2 p.Ser72Gly Uncertain significance Single submitter
- ERGIC2 p.Thr152Ile Uncertain significance Single submitter
- ERGIC2 p.Thr9Ala Uncertain significance Single submitter
- ERGIC2 p.Tyr88Phe Uncertain significance Single submitter
- ERGIC2 p.Val302Leu Uncertain significance Single submitter
- ERGIC2 p.Val82Phe Uncertain significance Single submitter
Predictors split 9
The independent predictors disagree with each other — read with care.
- ERGIC2 p.Ala283Glu Uncertain significance Single submitter
- ERGIC2 p.Arg197Cys Uncertain significance Single submitter
- ERGIC2 p.Glu224Ala Uncertain significance Single submitter
- ERGIC2 p.Glu98Lys Uncertain significance Single submitter
- ERGIC2 p.Ile187Val Uncertain significance Single submitter
- ERGIC2 p.Ile80Val Uncertain significance Single submitter
- ERGIC2 p.Tyr26Cys Uncertain significance Single submitter
- ERGIC2 p.Val108Leu Uncertain significance Single submitter
- ERGIC2 p.Val189Met Uncertain significance Single submitter
All ERGIC2 variants
Pathogenic 1
- c.572+5G>A Single submitter craniolenticulosutural dysplasia
Likely benign 2
- p.Thr152Ala Single submitter
- p.Val272Met No assertion criteria EBV-positive nodal T- and NK-cell lymphoma
Uncertain significance 41
- p.Ala240Ser Single submitter ⚠
- p.Ala283Glu Single submitter ⚠
- p.Arg197Cys Single submitter ⚠
- p.Arg277Pro Single submitter ⚠
- p.Arg346His Single submitter ⚠
- p.Asn179Ser Single submitter ⚠
- p.Asn356Ser Single submitter ⚠
- p.Asn375Ser Single submitter ⚠
- p.Asp162Asn Single submitter ⚠
- p.Gln313Arg Single submitter ⚠
- p.Gln56His Single submitter ⚠
- p.Glu224Ala Single submitter ⚠
- p.Glu98Lys Single submitter ⚠
- p.Gly284Asp Single submitter ⚠
- p.Gly323Glu Single submitter ⚠
- p.His173Tyr Single submitter ⚠
- p.His195Tyr Single submitter ⚠
- p.His377Arg Single submitter ⚠
- p.Ile187Val Single submitter ⚠
- p.Ile229Phe Single submitter ⚠
- p.Ile230Val Single submitter ⚠
- p.Ile239Val Single submitter ⚠
- p.Ile49Val Single submitter ⚠
- p.Ile80Val Single submitter ⚠
- p.Lys262Glu Single submitter ⚠
- p.Met331Leu Single submitter ⚠
- p.Phe360Ser Single submitter ⚠
- p.Pro194Ala Single submitter ⚠
- p.Pro354Ser Single submitter ⚠
- p.Pro370Ser Single submitter ⚠
- p.Ser153Leu Single submitter ⚠
- p.Ser25Asn Single submitter ⚠
- p.Ser72Gly Single submitter ⚠
- p.Thr152Ile Single submitter ⚠
- p.Thr9Ala Single submitter ⚠
- p.Tyr26Cys Single submitter ⚠
- p.Tyr88Phe Single submitter ⚠
- p.Val108Leu Single submitter ⚠
- p.Val189Met Single submitter ⚠
- p.Val302Leu Single submitter ⚠
- p.Val82Phe Single submitter ⚠