RCE1 — 43 ClinVar variants
All ClinVar germline RCE1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 41 flagged for review →
43 Uncertain significance
Full RCE1 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 35
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- RCE1 p.Ala143Val Uncertain significance Single submitter
- RCE1 p.Ala289Ser Uncertain significance Single submitter
- RCE1 p.Ala2Val Uncertain significance Single submitter
- RCE1 p.Ala66Thr Uncertain significance Single submitter
- RCE1 p.Arg157Cys Uncertain significance Single submitter
- RCE1 p.Arg157His Uncertain significance Single submitter
- RCE1 p.Arg219Gly Uncertain significance Single submitter
- RCE1 p.Arg250Cys Uncertain significance Single submitter
- RCE1 p.Arg319Gln Uncertain significance Single submitter
- RCE1 p.Arg319Leu Uncertain significance Single submitter
- RCE1 p.Asp7Ala Uncertain significance Single submitter
- RCE1 p.Asp7Asn Uncertain significance Single submitter
- RCE1 p.Glu22Gln Uncertain significance Single submitter
- RCE1 p.Glu59Lys Uncertain significance Single submitter
- RCE1 p.Gly5Ser Uncertain significance Single submitter
- RCE1 p.Gly6Arg Uncertain significance Single submitter
- RCE1 p.His261Tyr Uncertain significance Single submitter
- RCE1 p.Ile212Val Uncertain significance Single submitter
- RCE1 p.Leu247Phe Uncertain significance Single submitter
- RCE1 p.Leu43Phe Uncertain significance Single submitter
- RCE1 p.Leu4Val Uncertain significance Single submitter
- RCE1 p.Leu53Arg Uncertain significance Single submitter
- RCE1 p.Leu81Phe Uncertain significance Single submitter
- RCE1 p.Leu88Phe Uncertain significance Single submitter
- RCE1 p.Met136Leu Uncertain significance Single submitter
- RCE1 p.Phe40Val Uncertain significance Single submitter
- RCE1 p.Pro195Ser Uncertain significance Single submitter
- RCE1 p.Pro83Leu Uncertain significance Single submitter
- RCE1 p.Ser15Leu Uncertain significance Single submitter
- RCE1 p.Ser38Pro Uncertain significance Single submitter
- RCE1 p.Thr199Ile Uncertain significance Single submitter
- RCE1 p.Thr303Met Uncertain significance Single submitter
- RCE1 p.Val206Ala Uncertain significance Single submitter
- RCE1 p.Val223Leu Uncertain significance Single submitter
- RCE1 p.Val39Leu Uncertain significance Single submitter
Predictors split 6
The independent predictors disagree with each other — read with care.
- RCE1 p.Arg219Cys Uncertain significance Single submitter
- RCE1 p.Asp63Glu Uncertain significance Single submitter
- RCE1 p.Leu299Phe Uncertain significance Single submitter
- RCE1 p.Ser100Cys Uncertain significance Single submitter
- RCE1 p.Ser222Arg Uncertain significance Single submitter
- RCE1 p.Val86Met Uncertain significance Single submitter
All RCE1 variants
Uncertain significance 43
- p.Ala143Val Single submitter ⚠
- p.Ala289Ser Single submitter ⚠
- p.Ala2Val Single submitter ⚠
- p.Ala66Thr Single submitter ⚠
- p.Arg157Cys Single submitter ⚠
- p.Arg157His Single submitter ⚠
- p.Arg163Gly Single submitter
- p.Arg219Cys Single submitter ⚠
- p.Arg219Gly Single submitter ⚠
- p.Arg250Cys Single submitter ⚠
- p.Arg319Gln Single submitter ⚠
- p.Arg319Leu Single submitter ⚠
- p.Asp63Glu Single submitter ⚠
- p.Asp7Ala Single submitter ⚠
- p.Asp7Asn Single submitter ⚠
- p.Glu22Gln Single submitter ⚠
- p.Glu59Lys Single submitter ⚠
- p.Gly5Ser Single submitter ⚠
- p.Gly6Arg Single submitter ⚠
- p.His261Tyr Single submitter ⚠
- p.Ile212Val Single submitter ⚠
- p.Leu131Met Single submitter
- p.Leu247Phe Single submitter ⚠
- p.Leu299Phe Single submitter ⚠
- p.Leu43Phe Single submitter ⚠
- p.Leu4Val Single submitter ⚠
- p.Leu53Arg Single submitter ⚠
- p.Leu81Phe Single submitter ⚠
- p.Leu88Phe Single submitter ⚠
- p.Met136Leu Single submitter ⚠
- p.Phe40Val Single submitter ⚠
- p.Pro195Ser Single submitter ⚠
- p.Pro83Leu Single submitter ⚠
- p.Ser100Cys Single submitter ⚠
- p.Ser15Leu Single submitter ⚠
- p.Ser222Arg Single submitter ⚠
- p.Ser38Pro Single submitter ⚠
- p.Thr199Ile Single submitter ⚠
- p.Thr303Met Single submitter ⚠
- p.Val206Ala Single submitter ⚠
- p.Val223Leu Single submitter ⚠
- p.Val39Leu Single submitter ⚠
- p.Val86Met Single submitter ⚠