CD1A — 61 ClinVar variants
All ClinVar germline CD1A variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 55 flagged for review →
2 Benign · 9 Likely benign · 50 Uncertain significance
Full CD1A gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 55
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 16
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CD1A p.Ala196Glu Uncertain significance Single submitter
- CD1A p.Ala196Ser Uncertain significance Single submitter
- CD1A p.Ala306Val Uncertain significance Single submitter
- CD1A p.Arg185His Uncertain significance Single submitter
- CD1A p.Arg93Trp Uncertain significance Single submitter
- CD1A p.Asn177Lys Uncertain significance Single submitter
- CD1A p.Asn60Ser Uncertain significance Single submitter
- CD1A p.Cys278Arg Uncertain significance Single submitter
- CD1A p.Gln169His Uncertain significance Single submitter
- CD1A p.Gly211Ser Uncertain significance Single submitter
- CD1A p.His176Arg Uncertain significance Single submitter
- CD1A p.Ile308Thr Uncertain significance Single submitter
- CD1A p.Ile315Thr Uncertain significance Single submitter
- CD1A p.Leu25Phe Uncertain significance Single submitter
- CD1A p.Phe302Ser Uncertain significance Single submitter
- CD1A p.Tyr293Cys Uncertain significance Single submitter
Predictors split 39
The independent predictors disagree with each other — read with care.
- CD1A p.Arg90Cys Benign Multiple submitters
- CD1A p.Gly240Asp Likely benign Multiple submitters
- CD1A p.Ala102Thr Uncertain significance Single submitter
- CD1A p.Ala264Pro Uncertain significance Single submitter
- CD1A p.Arg185Cys Uncertain significance Single submitter
- CD1A p.Arg200Gln Uncertain significance Single submitter
- CD1A p.Arg263Cys Uncertain significance Single submitter
- CD1A p.Arg279Gln Uncertain significance Single submitter
- CD1A p.Arg279Gly Uncertain significance Single submitter
- CD1A p.Arg279Trp Uncertain significance Single submitter
- CD1A p.Arg322Gly Uncertain significance Single submitter
- CD1A p.Arg99Cys Uncertain significance Single submitter
- CD1A p.Asn166Ser Uncertain significance Single submitter
- CD1A p.Asp289His Uncertain significance Single submitter
- CD1A p.Gln42His Uncertain significance Single submitter
- CD1A p.Glu79Lys Uncertain significance Single submitter
- CD1A p.Glu84Asp Uncertain significance Single submitter
- CD1A p.Gly240Ser Uncertain significance Single submitter
- CD1A p.Gly258Arg Uncertain significance Single submitter
- CD1A p.Gly97Glu Likely benign Single submitter
- CD1A p.His55Asp Uncertain significance Single submitter
- CD1A p.His55Leu Uncertain significance Single submitter
- CD1A p.Ile174Thr Uncertain significance Single submitter
- CD1A p.Leu12His Uncertain significance Single submitter
- CD1A p.Phe140Ser Uncertain significance Single submitter
- CD1A p.Phe87Ser Uncertain significance Single submitter
- CD1A p.Pro150Leu Uncertain significance Single submitter
- CD1A p.Pro214Thr Uncertain significance Single submitter
- CD1A p.Ser129Arg Uncertain significance Single submitter
- CD1A p.Ser226Ala Uncertain significance Single submitter
- CD1A p.Ser277Cys Uncertain significance Single submitter
- CD1A p.Ser283Gly Uncertain significance Single submitter
- CD1A p.Ser298Gly Uncertain significance Single submitter
- CD1A p.Thr247Pro Uncertain significance Single submitter
- CD1A p.Trp260Cys Uncertain significance Single submitter
- CD1A p.Trp80Arg Uncertain significance Single submitter
- CD1A p.Val126Phe Likely benign Single submitter
- CD1A p.Val300Met Likely benign Single submitter
- CD1A p.Val307Met Uncertain significance Single submitter
All CD1A variants
Benign 2
- c.605-3C>T Multiple submitters
- p.Arg90Cys Multiple submitters ⚠
Likely benign 9
- p.Gly240Asp Multiple submitters ⚠
- p.Cys325= Single submitter
- p.Gly97Glu Single submitter ⚠
- p.His197Asp Single submitter
- p.Val126Phe Single submitter ⚠
- p.Val141Leu Single submitter
- p.Val291Ile Single submitter
- p.Val300Met Single submitter ⚠
- p.Val65Ile Single submitter
Uncertain significance 50
- p.Ala102Thr Single submitter ⚠
- p.Ala196Glu Single submitter ⚠
- p.Ala196Ser Single submitter ⚠
- p.Ala264Pro Single submitter ⚠
- p.Ala306Val Single submitter ⚠
- p.Arg185Cys Single submitter ⚠
- p.Arg185His Single submitter ⚠
- p.Arg200Gln Single submitter ⚠
- p.Arg263Cys Single submitter ⚠
- p.Arg279Gln Single submitter ⚠
- p.Arg279Gly Single submitter ⚠
- p.Arg279Trp Single submitter ⚠
- p.Arg322Gly Single submitter ⚠
- p.Arg93Trp Single submitter ⚠
- p.Arg99Cys Single submitter ⚠
- p.Asn166Ser Single submitter ⚠
- p.Asn177Lys Single submitter ⚠
- p.Asn60Ser Single submitter ⚠
- p.Asp289His Single submitter ⚠
- p.Cys278Arg Single submitter ⚠
- p.Gln169His Single submitter ⚠
- p.Gln42His Single submitter ⚠
- p.Glu79Lys Single submitter ⚠
- p.Glu84Asp Single submitter ⚠
- p.Gly211Ser Single submitter ⚠
- p.Gly240Ser Single submitter ⚠
- p.Gly258Arg Single submitter ⚠
- p.His176Arg Single submitter ⚠
- p.His55Asp Single submitter ⚠
- p.His55Leu Single submitter ⚠
- p.Ile174Thr Single submitter ⚠
- p.Ile308Thr Single submitter ⚠
- p.Ile315Thr Single submitter ⚠
- p.Leu12His Single submitter ⚠
- p.Leu25Phe Single submitter ⚠
- p.Phe140Ser Single submitter ⚠
- p.Phe302Ser Single submitter ⚠
- p.Phe87Ser Single submitter ⚠
- p.Pro150Leu Single submitter ⚠
- p.Pro214Thr Single submitter ⚠
- p.Ser129Arg Single submitter ⚠
- p.Ser226Ala Single submitter ⚠
- p.Ser277Cys Single submitter ⚠
- p.Ser283Gly Single submitter ⚠
- p.Ser298Gly Single submitter ⚠
- p.Thr247Pro Single submitter ⚠
- p.Trp260Cys Single submitter ⚠
- p.Trp80Arg Single submitter ⚠
- p.Tyr293Cys Single submitter ⚠
- p.Val307Met Single submitter ⚠