CD1E — 54 ClinVar variants
All ClinVar germline CD1E variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 49 flagged for review →
2 Benign · 4 Likely benign · 48 Uncertain significance
Full CD1E gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 49
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 30
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CD1E p.Ala110Val Uncertain significance Single submitter
- CD1E p.Ala127Thr Uncertain significance Single submitter
- CD1E p.Arg192Gln Uncertain significance Single submitter
- CD1E p.Arg270Gln Uncertain significance Single submitter
- CD1E p.Arg286Leu Uncertain significance Single submitter
- CD1E p.Arg383Cys Uncertain significance Single submitter
- CD1E p.Arg383His Uncertain significance Single submitter
- CD1E p.Asn167Thr Uncertain significance Single submitter
- CD1E p.Asn337Ser Uncertain significance Single submitter
- CD1E p.Cys217Ser Uncertain significance Single submitter
- CD1E p.Gln116His Uncertain significance Single submitter
- CD1E p.Gln22Arg Uncertain significance Single submitter
- CD1E p.Gln22Leu Uncertain significance Single submitter
- CD1E p.Glu265Asp Uncertain significance Single submitter
- CD1E p.Glu9Lys Uncertain significance Single submitter
- CD1E p.Leu197Phe Uncertain significance Single submitter
- CD1E p.Leu228Pro Uncertain significance Single submitter
- CD1E p.Leu339Phe Uncertain significance Single submitter
- CD1E p.Leu349Phe Uncertain significance Single submitter
- CD1E p.Lys336Gln Uncertain significance Single submitter
- CD1E p.Lys381Arg Uncertain significance Single submitter
- CD1E p.Met198Thr Uncertain significance Single submitter
- CD1E p.Phe364Ile Uncertain significance Single submitter
- CD1E p.Pro341Ser Uncertain significance Single submitter
- CD1E p.Pro344Ser Uncertain significance Single submitter
- CD1E p.Pro346Leu Uncertain significance Single submitter
- CD1E p.Thr18Ile Uncertain significance Single submitter
- CD1E p.Thr69Ala Uncertain significance Single submitter
- CD1E p.Tyr119Phe Uncertain significance Single submitter
- CD1E p.Val347Leu Uncertain significance Single submitter
Predictors split 19
The independent predictors disagree with each other — read with care.
- CD1E p.Ala195Val Uncertain significance Single submitter
- CD1E p.Arg164Trp Uncertain significance Single submitter
- CD1E p.Arg207Trp Uncertain significance Single submitter
- CD1E p.Arg38Cys Uncertain significance Single submitter
- CD1E p.Arg38His Uncertain significance Single submitter
- CD1E p.Arg75Cys Uncertain significance Single submitter
- CD1E p.Gln143Arg Uncertain significance Single submitter
- CD1E p.Glu54Lys Uncertain significance Single submitter
- CD1E p.Gly152Val Uncertain significance Single submitter
- CD1E p.Gly253Val Uncertain significance Single submitter
- CD1E p.Gly257Arg Uncertain significance Single submitter
- CD1E p.His52Tyr Uncertain significance Single submitter
- CD1E p.Ile316Lys Uncertain significance Single submitter
- CD1E p.Ile321Met Likely benign Single submitter
- CD1E p.Leu182Gln Uncertain significance Single submitter
- CD1E p.Leu197Pro Uncertain significance Single submitter
- CD1E p.Ser233Leu Uncertain significance Single submitter
- CD1E p.Tyr119Cys Uncertain significance Single submitter
- CD1E p.Val240Met Uncertain significance Single submitter
All CD1E variants
Benign 2
- p.Asp264= Multiple submitters
- p.His102Arg Multiple submitters
Likely benign 4
- p.Gln363His Single submitter
- p.Gly113Ser Single submitter
- p.Ile321Met Single submitter ⚠
- p.Val259Ile Single submitter
Uncertain significance 48
- p.Ala110Val Single submitter ⚠
- p.Ala127Thr Single submitter ⚠
- p.Ala195Val Single submitter ⚠
- p.Arg164Trp Single submitter ⚠
- p.Arg192Gln Single submitter ⚠
- p.Arg207Trp Single submitter ⚠
- p.Arg270Gln Single submitter ⚠
- p.Arg286Leu Single submitter ⚠
- p.Arg383Cys Single submitter ⚠
- p.Arg383His Single submitter ⚠
- p.Arg38Cys Single submitter ⚠
- p.Arg38His Single submitter ⚠
- p.Arg75Cys Single submitter ⚠
- p.Asn167Thr Single submitter ⚠
- p.Asn337Ser Single submitter ⚠
- p.Cys217Ser Single submitter ⚠
- p.Gln116His Single submitter ⚠
- p.Gln143Arg Single submitter ⚠
- p.Gln22Arg Single submitter ⚠
- p.Gln22Leu Single submitter ⚠
- p.Glu265Asp Single submitter ⚠
- p.Glu54Lys Single submitter ⚠
- p.Glu9Lys Single submitter ⚠
- p.Gly152Val Single submitter ⚠
- p.Gly253Val Single submitter ⚠
- p.Gly257Arg Single submitter ⚠
- p.His52Tyr Single submitter ⚠
- p.Ile316Lys Single submitter ⚠
- p.Leu182Gln Single submitter ⚠
- p.Leu197Phe Single submitter ⚠
- p.Leu197Pro Single submitter ⚠
- p.Leu228Pro Single submitter ⚠
- p.Leu339Phe Single submitter ⚠
- p.Leu349Phe Single submitter ⚠
- p.Lys336Gln Single submitter ⚠
- p.Lys381Arg Single submitter ⚠
- p.Met198Thr Single submitter ⚠
- p.Phe364Ile Single submitter ⚠
- p.Pro341Ser Single submitter ⚠
- p.Pro344Ser Single submitter ⚠
- p.Pro346Leu Single submitter ⚠
- p.Ser233Leu Single submitter ⚠
- p.Thr18Ile Single submitter ⚠
- p.Thr69Ala Single submitter ⚠
- p.Tyr119Cys Single submitter ⚠
- p.Tyr119Phe Single submitter ⚠
- p.Val240Met Single submitter ⚠
- p.Val347Leu Single submitter ⚠