CD1B — 50 ClinVar variants
All ClinVar germline CD1B variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 46 flagged for review →
3 Benign · 4 Likely benign · 43 Uncertain significance
Full CD1B gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 46
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 21
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CD1B p.Ala10Thr Uncertain significance Single submitter
- CD1B p.Ala118Gly Uncertain significance Single submitter
- CD1B p.Ala96Thr Uncertain significance Single submitter
- CD1B p.Arg264Gln Uncertain significance Single submitter
- CD1B p.Asn193Lys Uncertain significance Single submitter
- CD1B p.Asp61Asn Uncertain significance Single submitter
- CD1B p.Gln330Arg Uncertain significance Single submitter
- CD1B p.Gln330Glu Uncertain significance Single submitter
- CD1B p.Gln43Lys Uncertain significance Single submitter
- CD1B p.Glu85Lys Uncertain significance Single submitter
- CD1B p.Gly24Val Uncertain significance Single submitter
- CD1B p.Ile117Arg Uncertain significance Single submitter
- CD1B p.Ile309Thr Uncertain significance Single submitter
- CD1B p.Ile66Val Uncertain significance Single submitter
- CD1B p.Ile92Val Uncertain significance Single submitter
- CD1B p.Leu179Phe Uncertain significance Single submitter
- CD1B p.Ser300Pro Uncertain significance Single submitter
- CD1B p.Ser60Arg Uncertain significance Single submitter
- CD1B p.Thr37Ile Uncertain significance Single submitter
- CD1B p.Val305Ile Uncertain significance Single submitter
- CD1B p.Val90Asp Uncertain significance Single submitter
Predictors split 25
The independent predictors disagree with each other — read with care.
- CD1B p.Gly247Ser Benign Multiple submitters
- CD1B p.Ala265Thr Uncertain significance Single submitter
- CD1B p.Arg133Trp Uncertain significance Single submitter
- CD1B p.Arg219His Uncertain significance Single submitter
- CD1B p.Arg219Leu Uncertain significance Single submitter
- CD1B p.Arg219Pro Uncertain significance Single submitter
- CD1B p.Arg240Gln Likely benign Single submitter
- CD1B p.Arg264Pro Uncertain significance Single submitter
- CD1B p.Arg280Gln Uncertain significance Single submitter
- CD1B p.Arg280Trp Uncertain significance Single submitter
- CD1B p.Arg327Trp Likely benign Single submitter
- CD1B p.Asp252Asn Uncertain significance Single submitter
- CD1B p.Asp78Gly Uncertain significance Single submitter
- CD1B p.Cys318Tyr Uncertain significance Single submitter
- CD1B p.Gly134Glu Uncertain significance Single submitter
- CD1B p.Gly212Val Uncertain significance Single submitter
- CD1B p.Ile304Thr Uncertain significance Single submitter
- CD1B p.Leu188Ile Uncertain significance Single submitter
- CD1B p.Leu316Phe Uncertain significance Single submitter
- CD1B p.Pro205Ser Uncertain significance Single submitter
- CD1B p.Ser143Ile Uncertain significance Single submitter
- CD1B p.Ser34Leu Uncertain significance Single submitter
- CD1B p.Trp295Arg Uncertain significance Single submitter
- CD1B p.Tyr262Cys Uncertain significance Single submitter
- CD1B p.Val144Ala Uncertain significance Single submitter
All CD1B variants
Benign 3
- p.Gly104Ser Multiple submitters
- p.Gly247Ser Multiple submitters ⚠
- p.Phe76= Multiple submitters
Likely benign 4
- p.Arg240Gln Single submitter ⚠
- p.Arg327Trp Single submitter ⚠
- p.Gln246Arg Single submitter
- p.Ile301Thr Single submitter
Uncertain significance 43
- p.Ala10Thr Single submitter ⚠
- p.Ala118Gly Single submitter ⚠
- p.Ala265Thr Single submitter ⚠
- p.Ala96Thr Single submitter ⚠
- p.Arg133Trp Single submitter ⚠
- p.Arg219His Single submitter ⚠
- p.Arg219Leu Single submitter ⚠
- p.Arg219Pro Single submitter ⚠
- p.Arg264Gln Single submitter ⚠
- p.Arg264Pro Single submitter ⚠
- p.Arg280Gln Single submitter ⚠
- p.Arg280Trp Single submitter ⚠
- p.Asn193Lys Single submitter ⚠
- p.Asp252Asn Single submitter ⚠
- p.Asp61Asn Single submitter ⚠
- p.Asp78Gly Single submitter ⚠
- p.Cys318Tyr Single submitter ⚠
- p.Gln330Arg Single submitter ⚠
- p.Gln330Glu Single submitter ⚠
- p.Gln43Lys Single submitter ⚠
- p.Glu85Lys Single submitter ⚠
- p.Gly134Glu Single submitter ⚠
- p.Gly212Val Single submitter ⚠
- p.Gly24Val Single submitter ⚠
- p.Ile117Arg Single submitter ⚠
- p.Ile304Thr Single submitter ⚠
- p.Ile309Thr Single submitter ⚠
- p.Ile66Val Single submitter ⚠
- p.Ile92Val Single submitter ⚠
- p.Leu179Phe Single submitter ⚠
- p.Leu188Ile Single submitter ⚠
- p.Leu316Phe Single submitter ⚠
- p.Pro205Ser Single submitter ⚠
- p.Ser143Ile Single submitter ⚠
- p.Ser300Pro Single submitter ⚠
- p.Ser34Leu Single submitter ⚠
- p.Ser60Arg Single submitter ⚠
- p.Thr37Ile Single submitter ⚠
- p.Trp295Arg Single submitter ⚠
- p.Tyr262Cys Single submitter ⚠
- p.Val144Ala Single submitter ⚠
- p.Val305Ile Single submitter ⚠
- p.Val90Asp Single submitter ⚠