CD1D — 59 ClinVar variants
All ClinVar germline CD1D variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 53 flagged for review →
1 Benign · 5 Likely benign · 53 Uncertain significance
Full CD1D gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 53
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 22
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CD1D p.Ala118Ser Uncertain significance Single submitter
- CD1D p.Ala11Glu Uncertain significance Single submitter
- CD1D p.Ala311Val Uncertain significance Single submitter
- CD1D p.Arg24Lys Uncertain significance Single submitter
- CD1D p.Asn129Asp Uncertain significance Single submitter
- CD1D p.Gln328Lys Uncertain significance Single submitter
- CD1D p.Gln332Glu Uncertain significance Single submitter
- CD1D p.Gln79Lys Uncertain significance Single submitter
- CD1D p.Glu259Lys Uncertain significance Single submitter
- CD1D p.Leu106Ile Uncertain significance Single submitter
- CD1D p.Leu191Phe Uncertain significance Single submitter
- CD1D p.Pro185Leu Uncertain significance Single submitter
- CD1D p.Pro231Leu Uncertain significance Single submitter
- CD1D p.Ser148Ala Uncertain significance Single submitter
- CD1D p.Ser197Leu Uncertain significance Single submitter
- CD1D p.Thr172Met Uncertain significance Single submitter
- CD1D p.Thr300Asn Uncertain significance Single submitter
- CD1D p.Thr322Ile Uncertain significance Single submitter
- CD1D p.Thr83Met Uncertain significance Single submitter
- CD1D p.Thr96Ala Uncertain significance Single submitter
- CD1D p.Thr96Asn Uncertain significance Single submitter
- CD1D p.Tyr294Cys Uncertain significance Single submitter
Predictors split 31
The independent predictors disagree with each other — read with care.
- CD1D p.Ala306Ser Uncertain significance Single submitter
- CD1D p.Arg211His Uncertain significance Single submitter
- CD1D p.Arg280Gly Uncertain significance Single submitter
- CD1D p.Cys120Phe Uncertain significance Single submitter
- CD1D p.Gln79His Uncertain significance Single submitter
- CD1D p.Glu150Gly Uncertain significance Single submitter
- CD1D p.Glu287Lys Uncertain significance Single submitter
- CD1D p.Gly182Cys Uncertain significance Single submitter
- CD1D p.Gly228Arg Uncertain significance Single submitter
- CD1D p.His123Pro Uncertain significance Single submitter
- CD1D p.Leu108Val Uncertain significance Single submitter
- CD1D p.Leu112Ser Uncertain significance Single submitter
- CD1D p.Leu13Phe Uncertain significance Single submitter
- CD1D p.Leu304Met Uncertain significance Single submitter
- CD1D p.Leu316Phe Uncertain significance Single submitter
- CD1D p.Leu31Ile Uncertain significance Single submitter
- CD1D p.Pro124Ser Uncertain significance Single submitter
- CD1D p.Pro22Arg Uncertain significance Single submitter
- CD1D p.Pro255Ser Uncertain significance Single submitter
- CD1D p.Pro27Leu Uncertain significance Single submitter
- CD1D p.Ser278Ala Uncertain significance Single submitter
- CD1D p.Ser62Leu Uncertain significance Single submitter
- CD1D p.Ser62Trp Uncertain significance Single submitter
- CD1D p.Thr175Ala Uncertain significance Single submitter
- CD1D p.Thr260Ile Uncertain significance Single submitter
- CD1D p.Trp41Ser Uncertain significance Single submitter
- CD1D p.Trp81Cys Uncertain significance Single submitter
- CD1D p.Val223Leu Uncertain significance Single submitter
- CD1D p.Val334Phe Uncertain significance Single submitter
- CD1D p.Val99Glu Uncertain significance Single submitter
- CD1D p.Val99Met Uncertain significance Single submitter
All CD1D variants
Benign 1
- p.Thr64Ser Multiple submitters
Likely benign 5
- p.Leu28Phe Single submitter
- p.Phe132Leu Single submitter
- p.Thr329= Single submitter
- p.Trp49Arg Single submitter
- p.Val292Ile Single submitter
Uncertain significance 53
- p.Ala118Ser Single submitter ⚠
- p.Ala11Glu Single submitter ⚠
- p.Ala306Ser Single submitter ⚠
- p.Ala311Val Single submitter ⚠
- p.Arg211His Single submitter ⚠
- p.Arg24Lys Single submitter ⚠
- p.Arg280Gly Single submitter ⚠
- p.Asn129Asp Single submitter ⚠
- p.Cys120Phe Single submitter ⚠
- p.Gln328Lys Single submitter ⚠
- p.Gln332Glu Single submitter ⚠
- p.Gln79His Single submitter ⚠
- p.Gln79Lys Single submitter ⚠
- p.Glu150Gly Single submitter ⚠
- p.Glu259Lys Single submitter ⚠
- p.Glu287Lys Single submitter ⚠
- p.Gly182Cys Single submitter ⚠
- p.Gly228Arg Single submitter ⚠
- p.His123Pro Single submitter ⚠
- p.Leu106Ile Single submitter ⚠
- p.Leu108Val Single submitter ⚠
- p.Leu112Ser Single submitter ⚠
- p.Leu13Phe Single submitter ⚠
- p.Leu191Phe Single submitter ⚠
- p.Leu304Met Single submitter ⚠
- p.Leu316Phe Single submitter ⚠
- p.Leu31Ile Single submitter ⚠
- p.Pro124Ser Single submitter ⚠
- p.Pro185Leu Single submitter ⚠
- p.Pro22Arg Single submitter ⚠
- p.Pro231Leu Single submitter ⚠
- p.Pro255Ser Single submitter ⚠
- p.Pro27Leu Single submitter ⚠
- p.Ser148Ala Single submitter ⚠
- p.Ser197Leu Single submitter ⚠
- p.Ser278Ala Single submitter ⚠
- p.Ser62Leu Single submitter ⚠
- p.Ser62Trp Single submitter ⚠
- p.Thr172Met Single submitter ⚠
- p.Thr175Ala Single submitter ⚠
- p.Thr260Ile Single submitter ⚠
- p.Thr300Asn Single submitter ⚠
- p.Thr322Ile Single submitter ⚠
- p.Thr83Met Single submitter ⚠
- p.Thr96Ala Single submitter ⚠
- p.Thr96Asn Single submitter ⚠
- p.Trp41Ser Single submitter ⚠
- p.Trp81Cys Single submitter ⚠
- p.Tyr294Cys Single submitter ⚠
- p.Val223Leu Single submitter ⚠
- p.Val334Phe Single submitter ⚠
- p.Val99Glu Single submitter ⚠
- p.Val99Met Single submitter ⚠