CD300E — 24 ClinVar variants
All ClinVar germline CD300E variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 20 flagged for review →
3 Likely benign · 21 Uncertain significance
Full CD300E gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 20
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.
- CD300E p.Ala130Glu Uncertain significance Single submitter
- CD300E p.Ala99Thr Uncertain significance Single submitter
- CD300E p.Arg168Gln Uncertain significance Single submitter
- CD300E p.Asn150Lys Uncertain significance Single submitter
- CD300E p.Cys50Arg Uncertain significance Single submitter
- CD300E p.Glu39Lys Uncertain significance Single submitter
- CD300E p.Leu16Phe Uncertain significance Single submitter
- CD300E p.Pro134Leu Uncertain significance Single submitter
- CD300E p.Pro143Ser Uncertain significance Single submitter
- CD300E p.Pro203Leu Uncertain significance Single submitter
- CD300E p.Thr27Ala Uncertain significance Single submitter
- CD300E p.Thr56Met Uncertain significance Single submitter
- CD300E p.Trp35Cys Uncertain significance Single submitter
- CD300E p.Val127Ile Uncertain significance Single submitter
- CD300E p.Val160Met Uncertain significance Single submitter
- CD300E p.Val177Met Uncertain significance Single submitter
Predictors split 4
The independent predictors disagree with each other — read with care.
All CD300E variants
Likely benign 3
- p.Ala28Val Single submitter
- p.Gly22Ser Single submitter
- p.Phe193Leu Single submitter
Uncertain significance 21
- p.Ala130Glu Single submitter ⚠
- p.Ala99Thr Single submitter ⚠
- p.Arg168Gln Single submitter ⚠
- p.Arg51Leu Single submitter
- p.Asn150Lys Single submitter ⚠
- p.Cys50Arg Single submitter ⚠
- p.Glu39Lys Single submitter ⚠
- p.Leu16Phe Single submitter ⚠
- p.Pro134Leu Single submitter ⚠
- p.Pro143Ser Single submitter ⚠
- p.Pro203Leu Single submitter ⚠
- p.Ser120Leu Single submitter ⚠
- p.Ser120Trp Single submitter ⚠
- p.Thr27Ala Single submitter ⚠
- p.Thr56Met Single submitter ⚠
- p.Trp35Cys Single submitter ⚠
- p.Val127Ile Single submitter ⚠
- p.Val160Met Single submitter ⚠
- p.Val177Met Single submitter ⚠
- p.Val24Ala Single submitter ⚠
- p.Val76Met Single submitter ⚠