CLEC2A — 22 ClinVar variants
All ClinVar germline CLEC2A variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 20 flagged for review →
2 Likely benign · 20 Uncertain significance
Full CLEC2A 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 9
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CLEC2A p.Ala109Thr Uncertain significance Single submitter
- CLEC2A p.Ala81Gly Uncertain significance Single submitter
- CLEC2A p.Asp101Glu Uncertain significance Single submitter
- CLEC2A p.Ile141Met Uncertain significance Single submitter
- CLEC2A p.Ile141Thr Uncertain significance Single submitter
- CLEC2A p.Ile44Thr Uncertain significance Single submitter
- CLEC2A p.Met45Val Uncertain significance Single submitter
- CLEC2A p.Thr133Lys Uncertain significance Single submitter
- CLEC2A p.Val41Ile Uncertain significance Single submitter
Predictors split 11
The independent predictors disagree with each other — read with care.
- CLEC2A p.Arg7Trp Uncertain significance Single submitter
- CLEC2A p.Cys58Ser Uncertain significance Single submitter
- CLEC2A p.Cys58Tyr Uncertain significance Single submitter
- CLEC2A p.Gly110Val Uncertain significance Single submitter
- CLEC2A p.Gly131Asp Uncertain significance Single submitter
- CLEC2A p.Ile28Ser Uncertain significance Single submitter
- CLEC2A p.Lys83Asn Uncertain significance Single submitter
- CLEC2A p.Met102Thr Uncertain significance Single submitter
- CLEC2A p.Ser150Arg Uncertain significance Single submitter
- CLEC2A p.Ser156Arg Uncertain significance Single submitter
- CLEC2A p.Thr40Lys Uncertain significance Single submitter
All CLEC2A variants
Likely benign 2
- p.Lys21Asn Single submitter
- p.Trp137Ter Single submitter
Uncertain significance 20
- p.Ala109Thr Single submitter ⚠
- p.Ala81Gly Single submitter ⚠
- p.Arg7Trp Single submitter ⚠
- p.Asp101Glu Single submitter ⚠
- p.Cys58Ser Single submitter ⚠
- p.Cys58Tyr Single submitter ⚠
- p.Gly110Val Single submitter ⚠
- p.Gly131Asp Single submitter ⚠
- p.Ile141Met Single submitter ⚠
- p.Ile141Thr Single submitter ⚠
- p.Ile28Ser Single submitter ⚠
- p.Ile44Thr Single submitter ⚠
- p.Lys83Asn Single submitter ⚠
- p.Met102Thr Single submitter ⚠
- p.Met45Val Single submitter ⚠
- p.Ser150Arg Single submitter ⚠
- p.Ser156Arg Single submitter ⚠
- p.Thr133Lys Single submitter ⚠
- p.Thr40Lys Single submitter ⚠
- p.Val41Ile Single submitter ⚠