EREG — 20 ClinVar variants
All ClinVar germline EREG variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 19 flagged for review →
1 Benign · 1 Likely benign · 18 Uncertain significance
Full EREG gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 19
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 11
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- EREG p.Arg59His Uncertain significance Single submitter
- EREG p.Asp56Gly Uncertain significance Single submitter
- EREG p.Gln62His Uncertain significance Single submitter
- EREG p.Gly13Arg Uncertain significance Single submitter
- EREG p.Gly74Ser Uncertain significance Single submitter
- EREG p.His111Leu Uncertain significance Single submitter
- EREG p.Lys116Arg Uncertain significance Single submitter
- EREG p.Lys116Glu Uncertain significance Single submitter
- EREG p.Pro152Leu Uncertain significance Single submitter
- EREG p.Pro167Leu Uncertain significance Single submitter
- EREG p.Tyr75Cys Uncertain significance Single submitter
Predictors split 8
The independent predictors disagree with each other — read with care.
- EREG p.Arg147Gln Benign Multiple submitters
- EREG p.Arg145Gly Uncertain significance Single submitter
- EREG p.Leu128Ser Uncertain significance Single submitter
- EREG p.Ser32Asn Uncertain significance Single submitter
- EREG p.Tyr91His Uncertain significance Single submitter
- EREG p.Val101Phe Uncertain significance Single submitter
- EREG p.Val159Leu Uncertain significance Single submitter
- EREG p.Val30Ile Uncertain significance Single submitter
All EREG variants
Benign 1
- p.Arg147Gln Multiple submitters ⚠
Likely benign 1
- p.Ile131Val Single submitter
Uncertain significance 18
- p.Arg145Gly Single submitter ⚠
- p.Arg59His Single submitter ⚠
- p.Asp56Gly Single submitter ⚠
- p.Gln62His Single submitter ⚠
- p.Gly13Arg Single submitter ⚠
- p.Gly74Ser Single submitter ⚠
- p.His111Leu Single submitter ⚠
- p.Leu128Ser Single submitter ⚠
- p.Lys116Arg Single submitter ⚠
- p.Lys116Glu Single submitter ⚠
- p.Pro152Leu Single submitter ⚠
- p.Pro167Leu Single submitter ⚠
- p.Ser32Asn Single submitter ⚠
- p.Tyr75Cys Single submitter ⚠
- p.Tyr91His Single submitter ⚠
- p.Val101Phe Single submitter ⚠
- p.Val159Leu Single submitter ⚠
- p.Val30Ile Single submitter ⚠