S100A6 — 19 ClinVar variants

All ClinVar germline S100A6 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 16 flagged for review →

1 Benign/Likely benign · 1 Likely benign · 17 Uncertain significance

Full S100A6 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 16

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.

Predictors split 7

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

All S100A6 variants

Benign/Likely benign 1

p.Gly90Asp Multiple submitters

Likely benign 1

p.Arg62Gln Single submitter

Uncertain significance 17

p.Ala2Ser Single submitter ⚠
p.Ala51Val Single submitter ⚠
p.Arg22Ser Single submitter ⚠
p.Arg62Pro Single submitter ⚠
p.Asp61fs Single submitter
p.Glu23Lys Single submitter ⚠
p.Glu36Gln Single submitter ⚠
p.Gly10Asp Single submitter ⚠
p.Gly21Ser Single submitter ⚠
p.Leu29Pro Single submitter ⚠
p.Lys26Asn Single submitter ⚠
p.Lys31Thr Single submitter ⚠
p.Lys64Glu Single submitter ⚠
p.Ser46Leu Single submitter ⚠
p.Tyr19His Single submitter ⚠
p.Val13Met Single submitter ⚠
p.Val74Ile Single submitter ⚠