RAE1 — 24 ClinVar variants
All ClinVar germline RAE1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 21 flagged for review →
1 Benign · 23 Uncertain significance
Full RAE1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 21
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 17
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- RAE1 p.Ala275Glu Uncertain significance Single submitter
- RAE1 p.Asn246Ser Uncertain significance Single submitter
- RAE1 p.Asn25Ser Uncertain significance Single submitter
- RAE1 p.Asp315His Uncertain significance Single submitter
- RAE1 p.Asp337Asn Uncertain significance Single submitter
- RAE1 p.Gly234Glu Uncertain significance Single submitter
- RAE1 p.Ile121Met Uncertain significance Single submitter
- RAE1 p.Ile133Val Uncertain significance Single submitter
- RAE1 p.Ile179Val Uncertain significance Single submitter
- RAE1 p.Ile32Val Uncertain significance Single submitter
- RAE1 p.Ile353Val Uncertain significance Single submitter
- RAE1 p.Ser37Cys Uncertain significance Single submitter
- RAE1 p.Thr22Ala Uncertain significance Single submitter
- RAE1 p.Thr86Pro Uncertain significance Single submitter
- RAE1 p.Tyr345Phe Uncertain significance Single submitter
- RAE1 p.Val166Ile Uncertain significance Single submitter
- RAE1 p.Ile136Met Uncertain significance No assertion criteria
Predictors split 4
The independent predictors disagree with each other — read with care.
All RAE1 variants
Benign 1
- c.91-8T>G Multiple submitters
Uncertain significance 23
- c.90+1del Single submitter
- p.Ala275Glu Single submitter ⚠
- p.Ala289Gly Single submitter ⚠
- p.Asn246Ser Single submitter ⚠
- p.Asn25Ser Single submitter ⚠
- p.Asp315His Single submitter ⚠
- p.Asp337Asn Single submitter ⚠
- p.Gly234Glu Single submitter ⚠
- p.Ile121Met Single submitter ⚠
- p.Ile133Val Single submitter ⚠
- p.Ile179Val Single submitter ⚠
- p.Ile32Val Single submitter ⚠
- p.Ile353Val Single submitter ⚠
- p.Lys349Glu Single submitter ⚠
- p.Ser37Cys Single submitter ⚠
- p.Thr22Ala Single submitter ⚠
- p.Thr86Pro Single submitter ⚠
- p.Tyr345Cys Single submitter ⚠
- p.Tyr345Phe Single submitter ⚠
- p.Val166Ile Single submitter ⚠
- p.Val178Met Single submitter
- p.Val218Met Single submitter ⚠
- p.Ile136Met No assertion criteria ⚠