CLEC3B — 27 ClinVar variants

All ClinVar germline CLEC3B variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 27 flagged for review →

1 Pathogenic · 26 Uncertain significance

Full CLEC3B gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 27

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 vs ClinVar 1

ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.

CLEC3B p.Ala180Asp Pathogenic No assertion criteria
macular dystrophy, retinal, 4

Predictors lean, ClinVar uncertain 13

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.

Predictors split 13

The independent predictors disagree with each other — read with care.

All CLEC3B variants

Pathogenic 1

p.Ala180Asp No assertion criteria macular dystrophy, retinal, 4 ⚠

Uncertain significance 26

p.Ala153Ser Single submitter ⚠
p.Ala163Val Single submitter ⚠
p.Arg151Pro Single submitter ⚠
p.Asn114Lys Single submitter ⚠
p.Asp166Glu Single submitter ⚠
p.Asp191Tyr Single submitter ⚠
p.Asp97Gly Single submitter ⚠
p.Cys11Tyr Single submitter ⚠
p.Gln123His Single submitter ⚠
p.Gln68Pro Single submitter ⚠
p.Glu130Lys Single submitter ⚠
p.Glu141Lys Single submitter ⚠
p.Glu22Lys Single submitter ⚠
p.Glu93Lys Single submitter ⚠
p.Gly74Glu Single submitter ⚠
p.Ile196Thr Single submitter ⚠
p.Leu51Val Single submitter ⚠
p.Leu8His Single submitter ⚠
p.Lys187Asn Single submitter ⚠
p.Ser177Leu Single submitter ⚠
p.Thr162Ile Single submitter ⚠
p.Thr25Ala Single submitter ⚠
p.Thr25Asn Single submitter ⚠
p.Val125Leu Single submitter ⚠
p.Val202Leu Single submitter ⚠
p.Val202Met Single submitter ⚠