EMP1 — 27 ClinVar variants
All ClinVar germline EMP1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 22 flagged for review →
5 Likely benign · 22 Uncertain significance
Full EMP1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 22
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 15
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- EMP1 p.Arg123Ser Uncertain significance Single submitter
- EMP1 p.Cys140Arg Uncertain significance Single submitter
- EMP1 p.Cys142Ser Uncertain significance Single submitter
- EMP1 p.Gln127His Uncertain significance Single submitter
- EMP1 p.Gly92Arg Uncertain significance Single submitter
- EMP1 p.Ile69Phe Uncertain significance Single submitter
- EMP1 p.Ile77Val Uncertain significance Single submitter
- EMP1 p.Leu110Val Uncertain significance Single submitter
- EMP1 p.Leu150Pro Uncertain significance Single submitter
- EMP1 p.Ser144Thr Uncertain significance Single submitter
- EMP1 p.Thr126Ala Uncertain significance Single submitter
- EMP1 p.Thr126Lys Uncertain significance Single submitter
- EMP1 p.Thr88Ile Uncertain significance Single submitter
- EMP1 p.Tyr134Cys Uncertain significance Single submitter
- EMP1 p.Val16Leu Uncertain significance Single submitter
Predictors split 7
The independent predictors disagree with each other — read with care.
- EMP1 p.Arg123Cys Uncertain significance Single submitter
- EMP1 p.Gly137Ser Uncertain significance Single submitter
- EMP1 p.Ser52Arg Uncertain significance Single submitter
- EMP1 p.Thr126Met Uncertain significance Single submitter
- EMP1 p.Thr33Met Uncertain significance Single submitter
- EMP1 p.Val111Ala Uncertain significance Single submitter
- EMP1 p.Val83Met Uncertain significance Single submitter
All EMP1 variants
Likely benign 5
- c.316+126T>C Single submitter
- p.His119Arg Single submitter
- p.Ile109Val Single submitter
- p.Val11= Single submitter
- p.Val149Ile Single submitter
Uncertain significance 22
- p.Arg123Cys Single submitter ⚠
- p.Arg123Ser Single submitter ⚠
- p.Cys140Arg Single submitter ⚠
- p.Cys142Ser Single submitter ⚠
- p.Gln127His Single submitter ⚠
- p.Gly137Ser Single submitter ⚠
- p.Gly92Arg Single submitter ⚠
- p.Ile69Phe Single submitter ⚠
- p.Ile77Val Single submitter ⚠
- p.Leu110Val Single submitter ⚠
- p.Leu150Pro Single submitter ⚠
- p.Ser144Thr Single submitter ⚠
- p.Ser52Arg Single submitter ⚠
- p.Thr126Ala Single submitter ⚠
- p.Thr126Lys Single submitter ⚠
- p.Thr126Met Single submitter ⚠
- p.Thr33Met Single submitter ⚠
- p.Thr88Ile Single submitter ⚠
- p.Tyr134Cys Single submitter ⚠
- p.Val111Ala Single submitter ⚠
- p.Val16Leu Single submitter ⚠
- p.Val83Met Single submitter ⚠