EMP3 — 25 ClinVar variants
All ClinVar germline EMP3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 25 flagged for review →
25 Uncertain significance
Full EMP3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 25
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 18
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- EMP3 p.Ala122Ser Uncertain significance Single submitter
- EMP3 p.Arg162Gln Uncertain significance Single submitter
- EMP3 p.Asn47Ser Uncertain significance Single submitter
- EMP3 p.Asp42Asn Uncertain significance Single submitter
- EMP3 p.Asp48Asn Uncertain significance Single submitter
- EMP3 p.Glu163Gln Uncertain significance Single submitter
- EMP3 p.Gly101Ser Uncertain significance Single submitter
- EMP3 p.Gly153Arg Uncertain significance Single submitter
- EMP3 p.Gly33Glu Uncertain significance Single submitter
- EMP3 p.Ile120Thr Uncertain significance Single submitter
- EMP3 p.Ile75Val Uncertain significance Single submitter
- EMP3 p.Leu105Pro Uncertain significance Single submitter
- EMP3 p.Met70Ile Uncertain significance Single submitter
- EMP3 p.Met70Leu Uncertain significance Single submitter
- EMP3 p.Thr107Ile Uncertain significance Single submitter
- EMP3 p.Tyr156Cys Uncertain significance Single submitter
- EMP3 p.Val57Ile Uncertain significance Single submitter
- EMP3 p.Val8Ile Uncertain significance Single submitter
Predictors split 7
The independent predictors disagree with each other — read with care.
- EMP3 p.Ala119Val Uncertain significance Single submitter
- EMP3 p.Arg93Gln Uncertain significance Single submitter
- EMP3 p.Ile17Thr Uncertain significance Single submitter
- EMP3 p.Leu148Val Uncertain significance Single submitter
- EMP3 p.Leu72Phe Uncertain significance Single submitter
- EMP3 p.Thr90Ile Uncertain significance Single submitter
- EMP3 p.Val144Leu Uncertain significance Single submitter
All EMP3 variants
Uncertain significance 25
- p.Ala119Val Single submitter ⚠
- p.Ala122Ser Single submitter ⚠
- p.Arg162Gln Single submitter ⚠
- p.Arg93Gln Single submitter ⚠
- p.Asn47Ser Single submitter ⚠
- p.Asp42Asn Single submitter ⚠
- p.Asp48Asn Single submitter ⚠
- p.Glu163Gln Single submitter ⚠
- p.Gly101Ser Single submitter ⚠
- p.Gly153Arg Single submitter ⚠
- p.Gly33Glu Single submitter ⚠
- p.Ile120Thr Single submitter ⚠
- p.Ile17Thr Single submitter ⚠
- p.Ile75Val Single submitter ⚠
- p.Leu105Pro Single submitter ⚠
- p.Leu148Val Single submitter ⚠
- p.Leu72Phe Single submitter ⚠
- p.Met70Ile Single submitter ⚠
- p.Met70Leu Single submitter ⚠
- p.Thr107Ile Single submitter ⚠
- p.Thr90Ile Single submitter ⚠
- p.Tyr156Cys Single submitter ⚠
- p.Val144Leu Single submitter ⚠
- p.Val57Ile Single submitter ⚠
- p.Val8Ile Single submitter ⚠